<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Iron-deficiency anemia and can you explain it in depth? [/INST] Iron-deficiency anemia is anemia caused by a lack of iron. Anemia is defined as a decrease in the number of red blood cells or the amount of hemoglobin in the blood. When onset is slow, symptoms are often vague such as feeling tired, weak, short of breath, or having decreased ability to exercise. Anemia that comes on quickly often has more severe symptoms, including confusion, feeling like one is going to pass out or increased thirst. Anemia is typically significant before a person becomes noticeably pale. Children with iron deficiency anemia may have problems with growth and development. There may be additional symptoms depending on the underlying cause.Iron-deficiency anemia is caused by blood loss, insufficient dietary intake, or poor absorption of iron from food. Sources of blood loss can include heavy periods, childbirth, uterine fibroids, stomach ulcers, colon cancer, and urinary tract bleeding. Poor absorption of iron from food may occur as a result of an intestinal disorder such as inflammatory bowel disease or celiac disease, or surgery such as a gastric bypass. In the developing world, parasitic worms, malaria, and HIV/AIDS increase the risk of iron deficiency anemia. Diagnosis is confirmed by blood tests.Iron deficiency anemia can be prevented by eating a diet containing sufficient amounts of iron or by iron supplementation. Foods high in iron include meat, nuts, spinach, and foods made with iron-fortified flour. Treatment may include dietary changes and dealing with underlying causes, for example medical treatment for parasites or surgery for ulcers. Iron supplements and vitamin C may be recommended. Severe cases may be treated with blood transfusions or iron injections.Iron-deficiency anemia affected about 1.48 billion people in 2015. A lack of dietary iron is estimated to cause approximately half of all anemia cases globally. Women and young children are most commonly affected. In 2015, anemia due to iron deficiency resulted in about 54,000 deaths – down from 213,000 deaths in 1990.

Signs and symptoms
Iron-deficiency anemia may be present without a person experiencing symptoms, it tends to develop slowly; therefore the body has time to adapt, and the disease often goes unrecognized for some time. If symptoms present, patients may present with the sign of pallor (reduced oxyhemoglobin in skin or mucous membranes), and the symptoms of feeling tired, weak, dizziness, lightheadedness, poor physical exertion, headaches, decreased ability to concentrate, cold hands and feet, cold sensitivity, increased thirst and confusion. It may be accompanied by other symptoms, such as hair loss and thinning, cracked and dry lips, and dark circles around the eyes.None of these symptoms (or any of the others below) are sensitive or specific. The symptom most suggestive of iron deficiency anemia in children is pallor of mucous membranes (primarily the conjunctiva). Even so, a large study showed that pallor of the mucous membranes is only 28% sensitive and 87% specific (with high predictive value) in distinguishing children with anemia (defined as hemoglobin < 11.0 g/dl) and 49% sensitive and 79% specific in distinguishing severe anemia (hemoglobin < 7.0 g/dl). Thus, this sign is reasonably predictive when present, but not helpful when absent, as only one-third to one-half of children who are anemic (depending on severity) will show pallor.In severe cases, shortness of breath can occur. Pica may also develop; of which consumption of ice, known as pagophagia, has been suggested to be the most specific for iron deficiency anemia.Other possible symptoms and signs of iron-deficiency anemia include:

Child development
Iron-deficiency anemia is associated with poor neurological development, including decreased learning ability and altered motor functions. This is because iron deficiency impacts the development of the cells of the brain called neurons. When the body is low on iron, the red blood cells get priority on iron and it is shifted away from the neurons of the brain. Exact causation has not been established, but there is a possible long-term impact from these neurological issues.

Cause
A diagnosis of iron-deficiency anemia requires further investigation into its cause. It can be caused by increased iron demand, increased iron loss, or decreased iron intake. Increased iron demand often occurs during periods of growth, such as in children and pregnant women. For example, during stages of rapid growth, babies and adolescents may outpace their dietary intake of iron which can result in deficiency in the absence of disease or a grossly abnormal diet. Iron loss is typically from blood loss. One example of blood loss is by chronic gastrointestinal blood loss, which could be linked to a possible cancer. In women of childbearing age, heavy menstrual periods can be a source of blood loss causing iron-deficiency anemia. People who do not consume much iron in their diet, such as vegans or vegetarians, are also at increased risk of developing iron deficiency anemia.

Parasitic disease
The leading cause of iron-deficiency anemia worldwide is a parasitic disease known as a helminthiasis caused by infestation with parasitic worms (helminths); specifically, hookworms. The hookworms most commonly responsible for causing iron-deficiency anemia include Ancylostoma duodenale, Ancylostoma ceylanicum, and Necator americanus. The World Health Organization estimates that approximately two billion people are infected with soil-transmitted helminths worldwide. Parasitic worms cause both inflammation and chronic blood loss by binding to a humans small-intestinal mucosa, and through their means of feeding and degradation, they can ultimately cause iron-deficiency anemia.

Blood loss
Red blood cells contain iron, so blood loss also leads to a loss of iron. There are several causes of blood loss including menstrual bleeding, gastrointestinal bleeding, stomach ulcers, and bleeding disorders. The bleeding may occur quickly or slowly. Slow, chronic blood loss within the body — such as from a peptic ulcer, angiodysplasia, inflammatory bowel disease, a colon polyp or gastrointestinal cancer (e.g., colon cancer)— can cause iron-deficiency anemia.

Menstrual bleeding
Menstrual bleeding is a common cause of iron deficiency anemia in women of child-bearing age. Women with menorrhagia (heavy menstrual periods) are at risk of iron-deficiency anemia because they are at higher-than-normal risk of losing a larger amount blood during menstruation than is replaced in their diet. Most women lose about 40 mL of blood per cycle. Iron is lost with the blood. Some birth control methods, such as pills and IUDs, may decrease the amount of blood, therefore iron lost during a menstrual cycle.  Intermittent iron supplementation may be as effective a treatment in these cases as daily supplements and reduce some of the adverse effects of long term daily supplements.

Gastrointestinal bleeding
The most common cause of iron deficiency anemia in men and post-menopausal women is gastrointestinal bleeding. There are many sources of gastrointestinal tract bleeding including the stomach, esophagus, small intestine, and the large intestine (colon). Gastrointestinal bleeding can result from regular use of some groups of medication, such as non-steroidal anti-inflammatory drugs (e.g. aspirin), as well as antiplatelets such as clopidogrel and anticoagulants such as warfarin; however, these are required in some patients, especially those with states causing a tendency to form blood clots. Colon cancer is another potential cause gastrointestinal bleeding, thus iron deficiency anemia. Typically colon cancer occurs in older individuals. In addition, some bleeding disorders can cause gastrointestinal bleeding. Two examples of bleeding disorders are von Willebrand disease and polycythemia vera.

Diet
The body normally gets the iron it requires from foods. If a person consumes too little iron, or iron that is poorly absorbed (non-heme iron), they can become iron deficient over time. Examples of iron-rich foods include meat, eggs, leafy green vegetables and iron-fortified foods. For proper growth and development, infants and children need iron from their diet. For children, a high intake of cows milk is associated with an increased risk of iron-deficiency anemia. Other risk factors for iron-deficiency anemia include low meat intake and low intake of iron-fortified products.The National Academy of Medicine updated Estimated Average Requirements and Recommended Dietary Allowances in 2001. The current EAR for iron for women ages 14–18 is 7.9 mg/day, 8.1 for ages 19–50 and 5.0 thereafter (post menopause). For men the EAR is 6.0 mg/day for ages 19 and up. The Recommended Dietary Allowance is 15.0 mg/day for women ages 15–18, 18.0 for 19–50 and 8.0 thereafter. For men, 8.0 mg/day for ages 19 and up. (Recommended Dietary Allowances are higher than Estimated Average Requirements so as to identify amounts that will cover people with higher than average requirements.) The Recommended Dietary Allowance for pregnancy is 27 mg/day, and for lactation, 9 mg/day. For children ages 1–3 years it is 7 mg/day, 10 for ages 4–8 and 8 for ages 9–13. The European Food Safety Authority refers to the collective set of information as Dietary Reference Values, with Population Reference Intakes instead of Recommended Dietary Allowances, and Average Requirements instead of Estimated Average Requirements. For women the Population Reference Intake is 13 mg/day ages 15–17 years, 16 mg/day for women ages 18 and up who are premenopausal and 11 mg/day postmenopausal. For pregnancy and lactation, 16 mg/day. For men the Population Reference Intake is 11 mg/day ages 15 and older. For children ages 1 to 14 the Population Reference Intake increases from 7 to 11 mg/day. The Population Reference Intakes are higher than the US Recommended Dietary Allowances, with the exception of pregnancy.

Iron malabsorption
Iron from food is absorbed into the bloodstream in the small intestine, primarily in the duodenum. Iron malabsorption is a less common cause of iron-deficiency anemia, but many gastrointestinal disorders can reduce the bodys ability to absorb iron. There are different mechanisms that may be present.
In celiac disease, abnormal changes in the structure of the duodenum can decrease iron absorption. Abnormalities or surgical removal of the stomach can also lead to malabsorption by altering the acidic environment needed for iron to be converted into its absorbable form. If there is insufficient production of hydrochloric acid in the stomach, hypochlorhydria/achlorhydria can occur (often due to chronic H. pylori infections or long-term proton-pump inhibitor therapy), inhibiting the conversion of ferric iron to the absorbable ferrous iron.Bariatric surgery is associated with an increased risk of iron deficiency anemia due to malabsorption of iron. During a Roux-en-Y anastamosis, which is commonly performed for weight management and diabetes control, the stomach is made into a small pouch and this is connected directly to the small intestines further downstream (bypassing the duodenum as a site of digestion). About 17-45% of people develop iron deficiency after a Roux-en-Y gastric bypass.

Pregnant women
Without iron supplementation, iron-deficiency anemia occurs in many pregnant women because their iron stores need to serve their own increased blood volume, as well as be a source of hemoglobin for the growing baby and for placental development. Other less common causes are intravascular hemolysis and hemoglobinuria. Iron deficiency in pregnancy appears to cause long-term and irreversible cognitive problems in the baby.Iron deficiency affects maternal well-being by increasing risks for infections and complications during pregnancy. Some of these complications include pre-eclampsia, bleeding problems, and perinatal infections. Pregnancies where iron deficiency is present can lead to improper development of fetal tissues. Oral iron supplementation during the early stages of pregnancy, specifically the first trimester, is suggested to decrease the adverse effects of iron-deficiency anemia throughout pregnancy and to decrease the negative impact that iron deficiency has on fetal growth. Iron supplements may lead to a risk for gestational diabetes, pregnant women with adequate hemoglobin levels are recommended not to take iron supplements. Iron deficiency can lead to premature labor and to problems with neural functioning, including delays in language and motor development in the infant.Some studies show that women pregnant during their teenage years can be at greater risk of iron-deficiency anemia due to an already increased need for iron and other nutrients during adolescent growth spurts.

Children
Babies are at increased risk of developing iron deficiency anemia due to their rapid growth. Their need for iron is greater than they are getting in their diet. Babies are born with iron stores; however, these iron stores typically run out by 4–6 months of age. In addition, infants who are given cows milk too early can develop anemia due to gastrointestinal blood loss.Children who are at risk for iron-deficiency anemia include:
Preterm infants
Low birth weight infants
Infants fed with cows milk under 12 months of age
Breastfed infants who have not received iron supplementation after age 6 months, or those receiving non-iron-fortified formulas
Children between the ages of 1 to 5 years old who receive more than 24 ounces (700 mL) of cow milk per day
Children with low socioeconomic status
Children with special health care needs
Children of Hispanic ethnicity
Children who are overweight

Blood donation
Frequent blood donors are also at risk for developing iron deficiency anemia. When whole blood is donated, approximately 200 mg of iron is also lost from the body. The blood bank screens people for anemia before drawing blood for donation. If the patient has anemia, blood is not drawn. Less iron is lost if the person is donating platelets or white blood cells.

Hepcidin
Decreased levels of serum and urine hepcidin are early indicators of iron deficiency.  Hepcidin concentrations are also connected to the complex relationship between malaria and iron deficiency.

Mechanism
Anemia can result from significant iron deficiency. When the body has sufficient iron to meet its needs (functional iron), the remainder is stored for later use in cells, mostly in the bone marrow and liver. These stores are called ferritin complexes and are part of the human (and other animals) iron metabolism systems. Men store about 3.5 g of iron in their body, and women store about 2.5 g.Hepcidin is a peptide hormone produced in the liver that is responsible for regulating iron levels in the body. Hepcidin decreases the amount of iron available for erythropoesis (red blood cell production). Hepcidin binds to and induces the degradation of ferroportin, which is responsible for exporting iron from cells and mobilizing it to the bloodstream. Conditions such as high levels of erythropoesis, iron deficiency and tissue hypoxia inhibit hepcidin expression. Whereas systemic infection or inflammation (especially involving the cytokine IL-6) or increased circulating iron levels stimulate hepcidin expression.Iron is a mineral that is important in the formation of red blood cells in the body, particularly as a critical component of hemoglobin. About 70% of the iron found in the body is bound to hemoglobin. Iron is primarily absorbed in the small intestine, in particular the duodenum and jejunum. Certain factors increase or decrease absorption of iron. For example, taking Vitamin C with a source of iron is known to increase absorption. Some medications such as tetracyclines and antacids can decrease absorption of iron. After being absorbed in the small intestine, iron travels through blood, bound to transferrin, and eventually ends up in the bone marrow, where it is involved in red blood cell formation. When red blood cells are degraded, the iron is recycled by the body and stored.When the amount of iron needed by the body exceeds the amount of iron that is readily available, the body can use iron stores (ferritin) for a period of time, and red blood cell formation continues normally. However, as these stores continue to be used, iron is eventually depleted to the point that red blood cell formation is abnormal. Ultimately, anemia ensues, which by definition is a hemoglobin lab value below normal limits.

Diagnosis
Conventionally, a definitive diagnosis requires a demonstration of depleted body iron stores obtained by bone marrow aspiration, with the marrow stained for iron. However, with the availability of reliable blood tests that can be more readily collected for iron-deficiency anemia diagnosis, a bone marrow aspiration is usually not obtained. Furthermore, a study published April 2009 questions the value of stainable bone marrow iron following parenteral iron therapy. Once iron deficiency anemia is confirmed, gastrointestinal blood loss is presumed to be the cause until proven otherwise since it can be caused by an otherwise asymptomatic colon cancer. Initial evaluation must include esophagogastroduodenoscopy and colonoscopy to evaluate for cancer or bleeding of the gastrointestinal tract.A thorough medical history is important to the diagnosis of iron-deficiency anemia. The history can help to differentiate common causes of the condition such as a menstruation in woman or the presence of blood in the stool. A travel history to areas in which hookworms and whipworms are endemic may also be helpful in guiding certain stool tests for parasites or their eggs. Although symptoms can play a role in identifying iron-deficiency anemia, they are often vague, which may limit their contribution to determining the diagnosis.

Blood tests
Anemia is often discovered by routine blood tests. A sufficiently low hemoglobin by definition makes the diagnosis of anemia, and a low hematocrit value is also characteristic of anemia. Further studies will be undertaken to determine the anemias cause. If the anemia is due to iron deficiency, one of the first abnormal values to be noted on a complete blood count, as the bodys iron stores begin to be depleted, will be a high red blood cell distribution width, reflecting an increased variability in the size of red blood cells.A low mean corpuscular volume also appears during the course of body iron depletion. It indicates a high number of abnormally small red blood cells. A low mean corpuscular volume, a low mean corpuscular hemoglobin or mean corpuscular hemoglobin concentration, and the corresponding appearance of red blood cells on visual examination of a peripheral blood smear narrows the problem to a microcytic anemia (literally, a small red blood cell anemia).The blood smear of a person with iron-deficiency anemia shows many hypochromic (pale, relatively colorless) and small red blood cells, and may also show poikilocytosis (variation in shape) and anisocytosis (variation in size). With more severe iron-deficiency anemia, the peripheral blood smear may show hypochromic, pencil-shaped cells and, occasionally, small numbers of nucleated red blood cells. The platelet count may be slightly above the high limit of normal in iron-deficiency anemia (termed a mild thrombocytosis), but severe cases can present with thrombocytopenia (low platelet count).Iron-deficiency anemia is confirmed by tests that include serum ferritin, serum iron level, serum transferrin, and total iron binding capacity. A low serum ferritin is most commonly found. However, serum ferritin can be elevated by any type of chronic inflammation and thus is not consistently decreased in iron-deficiency anemia. Serum iron levels may be measured, but serum iron concentration is not as reliable as the measurement of both serum iron and serum iron-binding protein levels. The percentage of iron saturation (or transferrin saturation index or percent) can be measured by dividing the level of serum iron by total iron binding capacity and is a value that can help to confirm the diagnosis of iron-deficiency anemia; however, other conditions must also be considered, including other types of anemia.Another finding that can be used is the level of red blood cell distribution width. During haemoglobin synthesis, trace amounts of zinc will be incorporated into protoporphyrin in the place of iron which is lacking. Protoporphyrin can be separated from its zinc moiety and measured as free erythrocyte protoporphyrin, providing an indirect measurement of the zinc-protoporphyrin complex. The level of free erythrocyte protoporphyrin is expressed in either μg/dl of whole blood or μg/dl of red blood cells. An iron insufficiency in the bone marrow can be detected very early by a rise in free erythrocyte protoporphyrin.Further testing may be necessary to differentiate iron-deficiency anemia from other disorders, such as thalassemia minor. It is very important not to treat people with thalassemia with an iron supplement, as this can lead to hemochromatosis. A hemoglobin electrophoresis provides useful evidence for distinguishing these two conditions, along with iron studies.

Screening
It is unclear if screening pregnant women for iron-deficiency anemia during pregnancy improves outcomes in the United States. The same holds true for screening children who are 6 to 24 months old. Even so, screening is a Level B recommendation suggested by the US Preventative Services Task Force in pregnant women without symptoms and in infants considered high risk. Screening is done with either a hemoglobin or hematocrit lab test.

Treatment
Treatment should take into account the cause and severity of the condition. If the iron-deficiency anemia is a result of blood loss or another underlying cause, treatment is geared toward addressing the underlying cause. Most cases of iron deficiency anemia are treated with oral iron supplements. In severe acute cases, treatment measures are taken for immediate management in the interim, such as blood transfusions or intravenous iron.For less severe cases, treatment of iron-deficiency anemia includes dietary changes to incorporate iron-rich foods into regular oral intake and oral iron supplementation. Foods rich in ascorbic acid (vitamin C) can also be beneficial, since ascorbic acid enhances iron absorption. Oral iron supplements are available in multiple forms. Some are in the form of pills and some are drops for children. Most forms of oral iron replacement therapy are absorbed well by the small intestine; however, there are certain preparations of iron supplements that are designed for longer release in the small intestine than other preparations. Oral iron supplements are best taken up by the body on an empty stomach because food can decrease the amount of iron absorbed from the small intestine. The dosing of oral iron replacement therapy is as much as 100–200 mg per day in adults and 3–6 mg per kilogram in children. This is generally spread out as 3-4 pills taken throughout the day. The various forms of treatment are not without possible adverse side effects. Iron supplementation by mouth commonly causes negative gastrointestinal effects, including constipation, nausea, vomiting, metallic taste to the oral iron and dark colored stools. Constipation is reported by 15-20% of patients taking oral iron therapy. Preparations of iron therapy that take longer to be absorbed by the small intestine (extended release iron therapy) are less likely to cause constipation. It can take six months to one year to get blood levels of iron up to a normal range and provide the body with iron stores. Oral iron replacement may not be effective in cases of iron deficiency due to malabsorption, such as celiac disease, inflammatory bowel disease, or H. pylori infection; these cases would require treatment of the underlying disease to increase oral absorption or intravenous iron replacement.As iron-deficiency anemia becomes more severe, if the anemia does not respond to oral treatments, or if the treated person does not tolerate oral iron supplementation, then other measures may become necessary. Two options are intravenous iron injections and blood transfusion. Intravenous can be for people who do not tolerate oral iron, who are unlikely to respond to oral iron, or who require iron on a long-term basis. For example, people receiving dialysis treatment who are also getting erythropoietin or another erythropoiesis-stimulating agent are given parenteral iron, which helps the body respond to the erythropoietin agents to produce red blood cells.Intravenous iron can induce an allergic response that can be as serious as anaphylaxis, although different formulations have decreased the likelihood of this adverse effect. In certain cases intravenous iron is both safer and more effective than the oral route. For patients with severe anemia such as from blood loss, or who have severe symptoms such as cardiovascular instability, a blood transfusion may be considered.Ferric derisomaltose (Monoferric) was approved in the United States in January 2020, for the treatment of iron deficiency anemia.

Epidemiology
A moderate degree of iron-deficiency anemia affects approximately 610 million people worldwide or 8.8% of the population. It is slightly more common in females (9.9%) than males (7.8%). Up to 15% of children ages 1–3 years have iron deficiency anemia </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Pouchitis and can you explain it in depth? [/INST] Pouchitis is an umbrella term for inflammation of the ileal pouch, an artificial rectum surgically created out of ileum (the last section of the small intestine) in patients who have undergone a proctocolectomy or total colectomy (removal of the colon and rectum). The ileal pouch-anal anastomosis is created in the management of patients with ulcerative colitis, indeterminate colitis, familial adenomatous polyposis, cancer, or rarely, other colitides.A variety of mechanisms can be the cause of pouchitis including inflammatory factors such as a disbiosis sparked inflammation or Crohns disease of the pouch, surgical causes including surgical join leaks and pelvic sepsis, or infectious from Clostridium difficile (C Diff) or Cytomegalovirus (CMV).  It is possible to have more than one factor causing pouch inflammation at the same time.The incidence of a first episode of pouchitis at 1, 5 and 10 years post-operatively is 15%, 33% and 45% respectively.Patients with pouchitis typically present with bloody diarrhea, urgency in passing stools, or discomfort while passing stools.  The loss of blood and/or dehydration resulting from the frequent stools will frequently result in nausea.  Extreme cramping and pain can occur with pouchitis.
Endoscopic evaluation of the pouch (pouchoscopy) in patients with pouchitis usually reveals erythematous pouch mucosa, loss of pseudocolonic vasculature or other architecture, and friability of the mucosa.  Biopsies show evidence of inflammatory cells or red blood cells in the lamina propria.

Signs and symptoms
Symptoms of pouchitis include increased stool frequency, urgency, incontinence, nocturnal seepage, abdominal cramping, pelvic discomfort, and arthralgia.Symptom severity does not always correlate with severity of endoscopically or histologically evaluated pouch inflammation </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Hematocolpos and can you explain it in depth? [/INST] Hematocolpos is a medical condition in which the vagina is pooled with menstrual blood due to multiple factors leading to the blockage of menstrual blood flow. The medical definition of hematocolpos is an accumulation of blood within the vagina. It is often caused by the combination of menstruation with an imperforate hymen. It is sometimes seen in Robinow syndrome, uterus didelphys, or other vaginal anomalies.
A related disorder is hematometra, where the uterus fills with menstrual blood. It presents after puberty as primary amenorrhoea, recurrent pelvic pain with a pelvic mass. This can be caused by a congenital stenosis of the cervix, or by a complication of a surgical treatment.  Mucometrocolpos is the accumulation of mucous secretions behind an imperforate hymen. Mucometrocolpos can sometimes cause abdominal distention.

Symptoms
On and off lower abdominal pain lasting more than a week
Pain with cramping, with episodes of worse pain in between
Vomiting without blood or bile
Abdominal bloating and distention
Constipation and changes in urine output
Tender breasts
Vaginal bleeding or discharge
Severe cyclic pelvic pain
Urinary retention

Causes
There are four possible causes of hematocolpos
Imperforate hymen: An imperforate hymen is a medical condition where the female is born with a hymen that spans the entire diameter of the vagina, with no opening to the outside. An imperforate hymen may be diagnosed at any age. However, when a girl hits puberty, this type of hymen blocks the blood from flowing out and the bloods pools in the vagina. This may cause a sensation of mass or fullness in the lower abdomen, pain in the stomach and back, along with problems with urinating and bowel movements. Chemical exposure of the vaginal epithelia may lead to tissue damage (up to and including necrosis) and swelling (edema). The edematous blockage of the vagina results in identical symptomatology as the imperforate hymen.
Cervical atresia is a relatively rare Mullerian duct anomaly of the female reproductive tract. It is associated with acute or chronic pain in the abdomen or pelvic pain along with other reproductive problems. A significant share of the women with cervical atresia have it since birth, that is, congenital cervical atresia. However, Cervical Atresia is distinct from other Mullerian duct anomalies.
Vaginal atresia: Vaginal atresia is another congenital defect which results in the uterovaginal outflow tract obstruction. it occurs when the caudal portion of the vagina fails to form and is rather replaced with fibrous tissues only. Vaginal atresia has three basic categories of anomalies- vaginal agenesis, ambiguous genitalia, and imperforate anus and urogenital sinus variants. The different features associated with an ambiguous genitalia which might eventually lead to a blockage of menstrual blood flow are:  i) Rugal folds over the labia ii) Mass in an apparent labium iii) Excess clitoral tissue. Due to these anomalies, there are chances that the menstrual blood would not be able to flow out of the vagina, eventually leading to hematocolpos.
Transverse vaginal septum: A transverse vaginal septum is another medical condition whereby an extra horizontal wall of tissue that has formed during embryological development creates a blockage in the vagina. Transverse vaginal septa are relatively rare anomalies, occurring in about 1 in 70,000 girls. The diagnosis can be made at various ages, from neonates presenting with hydrocolpos to young women presenting with primary amenorrhea and pelvic pain due to the development of hematocolpos. Often, women might have a normal hymeneal opening but this wall of tissue might be blocking the access to the vaginal canal. A small opening in the septum called the fenestration allows the menstrual blood to flow out of the vagina </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Keratoconjunctivitis and can you explain it in depth? [/INST]  </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Labour and can you explain it in depth? [/INST]  </s>


<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Acute kidney injury and can you explain it in depth? [/INST] Acute kidney injury (AKI), previously called acute renal failure (ARF), is a sudden decrease in kidney function that develops within 7 days, as shown by an increase in serum creatinine or a decrease in urine output, or both.Causes of AKI are classified as either prerenal (due to decreased blood flow to the kidney), intrinsic renal (due to damage to the kidney itself), or postrenal (due to blockage of urine flow). Prerenal causes of AKI include sepsis, dehydration, excessive blood loss, cardiogenic shock, heart failure, cirrhosis, and certain medications like ACE inhibitors or NSAIDs. Intrinsic renal causes of AKI include glomerulonephritis, lupus nephritis, acute tubular necrosis, certain antibiotics, and chemotherapeutic agents. Postrenal causes of AKI include kidney stones, bladder cancer, neurogenic bladder, enlargement of the prostate, narrowing of the urethra, and certain medications like anticholinergics.The diagnosis of AKI is made based on a persons signs and symptoms, along with lab tests for serum creatinine and measurement of urine output. Other tests include urine microscopy and urine electrolytes. Renal ultrasound can be obtained when a postrenal cause is suspected. A kidney biopsy may be obtained when intrinsic renal AKI is suspected and the cause is unclear.AKI is seen in 10-15% of people admitted to the hospital and in more than 50% of people admitted to the intensive care unit (ICU). AKI may lead to a number of complications, including metabolic acidosis, high potassium levels, uremia, changes in body fluid balance, effects on other organ systems, and death. People who have experienced AKI are at increased risk of developing chronic kidney disease in the future. Management includes treatment of the underlying cause and supportive care, such as renal replacement therapy.

Signs and symptoms
The clinical presentation is often dominated by the underlying cause. The various symptoms of acute kidney injury result from the various disturbances of kidney function that are associated with the disease. Accumulation of urea and other nitrogen-containing substances in the bloodstream lead to a number of symptoms, such as fatigue, loss of appetite, headache, nausea, and vomiting. Marked increases in the potassium level can lead to abnormal heart rhythms, which can be severe and life-threatening. Fluid balance is frequently affected, though blood pressure can be high, low, or normal.Pain in the flanks may be encountered in some conditions (such as clotting of the kidneys blood vessels or inflammation of the kidney). This is the result of stretching of the fibrous tissue capsule surrounding the kidney. If the kidney injury is the result of dehydration, there may be thirst as well as evidence of fluid depletion on physical examination. Physical examination may also provide other clues as to the underlying cause of the kidney problem, such as a rash in interstitial nephritis (or vasculitis) and a palpable bladder in obstructive nephropathy.

Causes
Prerenal
Prerenal causes of AKI ("pre-renal azotemia") are those that decrease effective blood flow to the kidney and cause a decrease in the glomerular filtration rate (GFR). Both kidneys need to be affected as one kidney is still more than adequate for normal kidney function. Notable causes of prerenal AKI include low blood volume (e.g., dehydration), low blood pressure, heart failure (leading to cardiorenal syndrome), hepatorenal syndrome in the context of liver cirrhosis, and local changes to the blood vessels supplying the kidney. The latter include renal artery stenosis, or the narrowing of the renal artery which supplies the kidney with blood, and renal vein thrombosis, which is the formation of a blood clot in the renal vein that drains blood from the kidney.

Intrinsic or renal
Intrinsic AKI refers to disease processes which directly damage the kidney itself. Intrinsic AKI can be due to one or more of the kidneys structures including the glomeruli, kidney tubules, or the interstitium. Common causes of each are glomerulonephritis, acute tubular necrosis (ATN), and acute interstitial nephritis (AIN), respectively. Other causes of intrinsic AKI are rhabdomyolysis and tumor lysis syndrome. Certain medication classes such as calcineurin inhibitors (e.g., tacrolimus) can also directly damage the tubular cells of the kidney and result in a form of intrinsic AKI.

Postrenal
Postrenal AKI refers to acute kidney injury caused by disease states downstream of the kidney and most often occurs as a consequence of urinary tract obstruction. This may be related to benign prostatic hyperplasia, kidney stones, obstructed urinary catheter, bladder stones, or cancer of the bladder, ureters, or prostate.

Diagnosis
Definition
Introduced by the KDIGO in 2012, specific criteria exist for the diagnosis of AKI.
AKI can be diagnosed if any one of the following is present:

Increase in SCr by ≥0.3 mg/dl (≥26.5 μmol/L) within 48 hours; or
Increase in SCr to ≥1.5 times baseline, which has occurred within the prior 7 days; or
Urine volume < 0.5 mL/kg/h for 6 hours.

Staging
The RIFLE criteria, proposed by the Acute Dialysis Quality Initiative (ADQI) group, aid in assessment of the severity of a persons acute kidney injury. The acronym RIFLE is used to define the spectrum of progressive kidney injury seen in AKI:

Risk: 1.5-fold increase in the serum creatinine, or glomerular filtration rate (GFR) decrease by 25 percent, or urine output <0.5 mL/kg per hour for six hours.
Injury: Two-fold increase in the serum creatinine, or GFR decrease by 50 percent, or urine output <0.5 mL/kg per hour for 12 hours.
Failure: Three-fold increase in the serum creatinine, or GFR decrease by 75 percent, or urine output of <0.3 mL/kg per hour for 24 hours, or no urine output (anuria) for 12 hours.
Loss: Complete loss of kidney function (e.g., need for renal replacement therapy) for more than four weeks.
End-stage kidney disease: Complete loss of kidney function (e.g., need for renal replacement therapy) for more than three months.

Evaluation
The deterioration of kidney function may be signaled by a measurable decrease in urine output. Often, it is diagnosed on the basis of blood tests for substances normally eliminated by the kidney: urea and creatinine. Additionally, the ratio of BUN to creatinine is used to evaluate kidney injury. Both tests have their disadvantages. For instance, it takes about 24 hours for the creatinine level to rise, even if both kidneys have ceased to function. A number of alternative markers have been proposed (such as NGAL, KIM-1, IL18 and cystatin C), but none of them are established enough as of 2018 to replace creatinine as a marker of kidney function.Once the diagnosis of AKI is made, further testing is often required to determine the underlying cause. It is useful to perform a bladder scan or a post void residual to rule out urinary retention. In post void residual, a catheter is inserted into the urinary tract immediately after urinating to measure fluid still in the bladder. 50–100 mL suggests neurogenic bladder dysfunction.
These may include urine sediment analysis, renal ultrasound and/or kidney biopsy. Indications for kidney biopsy in the setting of AKI include the following:
Unexplained AKI, in a patient with two non-obstructed normal sized kidneys.
AKI in the presence of the nephritic syndrome.
Systemic disease associated with AKI.
Kidney transplant dysfunction.In medical imaging, the acute changes in the kidney are often examined with renal ultrasonography as the first-line modality, where CT scan and magnetic resonance imaging (MRI) are used for the follow-up examinations and when US fails to demonstrate abnormalities. In evaluation of the acute changes in the kidney, the echogenicity of the renal structures, the delineation of the kidney, the renal vascularity, kidney size and focal abnormalities are observed. CT is preferred in renal traumas, but US is used for follow-up, especially in the patients suspected for the formation of urinomas. A CT scan of the abdomen will also demonstrate bladder distension or hydronephrosis.

Classification
Acute kidney injury is diagnosed on the basis of clinical history and laboratory data. A diagnosis is made when there is a rapid reduction in kidney function, as measured by serum creatinine, or based on a rapid reduction in urine output, termed oliguria (less than 400 mLs of urine per 24 hours).

AKI can be caused by systemic disease (such as a manifestation of an autoimmune disease, e.g. lupus nephritis), crush injury, contrast agents, some antibiotics, and more. AKI often occurs due to multiple processes. The most common cause is dehydration and sepsis combined with nephrotoxic drugs, especially following surgery or contrast agents.
The causes of acute kidney injury are commonly categorized into prerenal, intrinsic, and postrenal.
Acute kidney injury occurs in up to 30% of patients following cardiac surgery. Mortality increases by 60-80% in post-cardiopulmonary bypass patients who go on to require renal replacement therapy. Preoperative creatinine greater than 1.2 mg/dL, combined valve and bypass procedures, emergency surgery, and preoperative intra-aortic balloon pump are risk factors most strongly correlated with post-cardiopulmonary bypass acute kidney injury. Other well-known minor risk factors include female gender, congestive heart failure, chronic obstructive pulmonary disease, insulin-requiring diabetes, and depressed left ventricular ejection fraction. Volatile anesthetic agents have been shown to increase renal sympathetic nerve activity (RSNA), which causes retention of salts and water, diminished renal blood flow (RBF) and an increase in serum renin levels, but not in antidiuretic hormone (ADH).

Treatment
The management of AKI hinges on identification and treatment of the underlying cause. The main objectives of initial management are to prevent cardiovascular collapse and death and to call for specialist advice from a nephrologist. In addition to treatment of the underlying disorder, management of AKI routinely includes the avoidance of substances that are toxic to the kidneys, called nephrotoxins. These include NSAIDs such as ibuprofen or naproxen, iodinated contrasts such as those used for CT scans, many antibiotics such as gentamicin, and a range of other substances.Monitoring of kidney function, by serial serum creatinine measurements and monitoring of urine output, is routinely performed. In the hospital, insertion of a urinary catheter helps monitor urine output and relieves possible bladder outlet obstruction, such as with an enlarged prostate.

Prerenal
In prerenal AKI without fluid overload, administration of intravenous fluids is typically the first step to improving kidney function. Volume status may be monitored with the use of a central venous catheter to avoid over- or under-replacement of fluid.
If low blood pressure persists despite providing a person with adequate amounts of intravenous fluid, medications that increase blood pressure (vasopressors) such as norepinephrine, and in certain circumstances medications that improve the hearts ability to pump (known as inotropes) such as dobutamine may be given to improve blood flow to the kidney. While a useful vasopressor, there is no evidence to suggest that dopamine is of any specific benefit and may in fact be harmful.

Intrinsic
The myriad causes of intrinsic AKI require specific therapies. For example, intrinsic AKI due to vasculitis or glomerulonephritis may respond to steroid medication, cyclophosphamide, and (in some cases) plasma exchange. Toxin-induced prerenal AKI often responds to discontinuation of the offending agent, such as ACE inhibitors, ARB antagonists, aminoglycosides, penicillins, NSAIDs, or paracetamol.The use of diuretics such as furosemide, is widespread and sometimes convenient in improving fluid overload. It is not associated with higher mortality (risk of death), nor with any reduced mortality or length of intensive care unit or hospital stay.

Postrenal
If the cause is obstruction of the urinary tract, relief of the obstruction (with a nephrostomy or urinary catheter) may be necessary.

Renal replacement therapy
Renal replacement therapy, such as with hemodialysis, may be instituted in some cases of AKI. Renal replacement therapy can be applied intermittently (IRRT) and continuously (CRRT). Study results regarding differences in outcomes between IRRT and CRRT are inconsistent. A systematic review of the literature in 2008 demonstrated no difference in outcomes between the use of intermittent hemodialysis and continuous venovenous hemofiltration (CVVH) (a type of continuous hemodialysis). Among critically ill patients, intensive renal replacement therapy with CVVH does not appear to improve outcomes compared to less intensive intermittent hemodialysis. However, other clinical and health economic studies demonstrated that, initiation of CRRT is associated with a lower likelihood of chronic dialysis and was cost-effective compared with IRRT in patients with acute kidney injury.

Complications
Metabolic acidosis, hyperkalemia, and pulmonary edema may require medical treatment with sodium bicarbonate, antihyperkalemic measures, and diuretics.
Lack of improvement with fluid resuscitation, therapy-resistant hyperkalemia, metabolic acidosis, or fluid overload may necessitate artificial support in the form of dialysis or hemofiltration. However, oliguria during anesthesia may predict AKI, but the effect of a fluid load is highly variable. Striving toward a predefined urine output  target to prevent AKI is futile.

Early recovery of AKI
AKI recovery can be classified into three stages 1–3 on the basis of the inverse of the AKI KDIGO serum creatinine criteria.

Prognosis
Mortality
Mortality after AKI remains high. AKI has a death rate as high as 20%, which may reach up to 50% in the intensive care unit (ICU). Each year, around two million people die of AKI worldwide.AKI develops in 5% to 30% of patients who undergo cardiothoracic surgery, depending on the definition used for AKI </s>


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<s> [INST] <<SYS>> You are a responsible assistant committed to providing accurate and helpful responses. Avoid sharing harmful or biased content. Clarify any unclear or incorrect questions rather than providing false or misleading information. <</SYS>> What is Turner syndrome and can you explain it in depth? [/INST] Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partially or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, those affected do not develop menstrual periods, or breasts without hormone treatment and are unable to have children without reproductive technology. Heart defects, diabetes, and low thyroid hormone occur in the disorder more frequently than average. Most people with Turner syndrome have normal intelligence; however, many have problems with spatial visualization that may be needed in order to learn mathematics. Vision and hearing problems also occur more often than average.Turner syndrome is not usually inherited; rather, it occurs during formation of the reproductive cells in a parent or in early cell division during development. No environmental risks are known, and the mothers age does not play a role. While most people have 46 chromosomes, people with Turner syndrome usually have 45 in some or all cells. The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. In these cases the symptoms are usually fewer, and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.No cure for Turner syndrome is known. Treatment may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which Turner syndrome is associated.Turner syndrome occurs in between one in 2,000 and one in 5,000 females at birth. All regions of the world and cultures are affected about equally. Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. American endocrinologist Henry Turner first described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.

Presentation
Turner syndrome has a number of physical and psychological impacts, including short stature, heart defects, neck webbing, delayed or absent puberty, and infertility. The phenotype of Turner syndrome is affected by mosaicism, where cell lines with a single sex chromosome are combined with those with multiple. Around 40%–50% of cases of Turner syndrome are true "monosomy X" with a 45,X0 karyotype, while the remainder are mosaic for another cell line, most commonly 46,XX, or have other structural abnormalities of the X chromosome. The classic features of Turner syndrome, while distinctive, may be rarer than previously thought; incidental diagnosis, such as in biobank samples or prenatal testing for older mothers, finds many girls and women with few traditional signs of Turner syndrome.

Physiological
Height
Turner syndrome is associated with short stature. The mean adult height of women with Turner syndrome without growth hormone therapy is around 20 cm (8 in) shorter than the mean of women in the general population. Mosaicism affects height in Turner syndrome; a large population sample drawn from the UK Biobank found women with 45,X0 karyotypes to have an average height of 145 cm (4 ft 9 in), while those with 45,X0/46,XX karyotypes averaged 159 cm (5 ft 2+1⁄2 in). The strength of the association between Turner syndrome and short stature is such that idiopathic short stature alone is a major diagnostic indication.Growth delay in Turner syndrome does not begin at birth; most neonates with the condition have a birth weight in the lower end of the normal range. Height begins to lag in toddlerhood, with a delayed growth velocity becoming apparent as early as 18 months. When girls with Turner syndrome begin school, their height is usually still not remarkably unusual; marked short stature becomes obvious in mid-childhood. In undiagnosed preadolescents and adolescents, growth delay may be mistaken for a side effect of delayed puberty and improperly treated. Short stature in Turner syndrome and its counterpoint, tall stature in sex chromosome polysomy conditions such as Klinefelter syndrome, XYY syndrome, and trisomy X, is caused by the short-stature homeobox gene on the X and Y chromosomes. The absence of a copy of the SHOX gene in Turners inhibits skeletal growth, resulting both in overall short stature and in a distinctive pattern of skeletal malformations including micrognathia (small chin), cubitus valgus (abnormal forearm angles), and short fingers.When Turner syndrome is diagnosed in early life, growth hormone therapy can decrease the degree of short stature. The use of growth hormone therapy in Turners originated from a series of studies in the 1980s finding it to substantially increase the height of treated girls, compared to prior adult height predictions and Turners growth charts; treatment with human growth hormone appears to increase expected adult height by approximately 7 cm (3 in) from an otherwise expected norm of 142 cm (4 ft 8 in)–147 cm (4 ft 10 in). In some cases oxandrolone, a steroid with a relatively mild masculinizing effect, may be used alongside growth hormone. The addition of oxandrolone to a Turners treatment regimen adds around 2 cm (1 in) to the final height. Oxandrolone is used particularly often in girls diagnosed later in their growth period, due to the reduced impact of growth hormone alone in this population. However, oxandrolone use runs the risk of delayed breast development, voice deepening, increased body hair, or clitoromegaly. The effects of growth hormone therapy are at their strongest during the first year of treatment and taper off over time.

Physical features
In addition to short stature, Turner syndrome is associated with a number of characteristic physical features. These include a webbed neck, a low hairline, a small chin and jaw, a high-arched palate, and a broad chest with wide-spaced nipples. Lymphedema (swelling) of the hands and feet is common at birth and sometimes persistent throughout the lifespan. Some Turners stigmata, such as cubitus valgus and shortened fingers, are related to SHOX gene dosage effects.A number of the external manifestations of Turner syndrome are focused on the limbs, hands, and feet. Lymphedema at birth is one of the classic features of the syndrome; though it often resolves during toddlerhood, recurrence in later life is frequent, often without apparent cause. Cases where the retained X chromosome was inherited from the mother more often experience lymphedema than those where it was from the father. As a consequence of lymphedemas effects on nail anatomy, females with Turner syndrome frequently have small hypoplastic nails. Shortened metacarpal bones, particularly the fourth metacarpal, are a frequent finding. The body shape of individuals with Turner syndrome is frequently quite broad and stocky, as the growth deficiency is more pronounced in the length of bones than in their width. Scoliosis is common in Turner syndrome, and is seen in 40% of girls without growth hormone treatment.Facial features associated with Turner syndrome include prominent ears, a low hairline, a webbed neck, a small chin with dental malocclusion, and downslanting palpebral fissures (the opening between the eyelids). These are thought to be related to lymphedema during the fetal period, specifically to the presence and resorption of excess fluids in the head and neck region. Neck webbing is a particularly distinctive trait of Turner syndrome, leading to many neonatal diagnoses. The underlying etiology of neck webbing is related to prenatal blood flow issues, and even in populations without Turners has broad health consequences; the rate of congenital heart disease in webbed neck is 150-fold higher than in the general population, while the feature is also associated with reduced height and minor developmental impairments. Some women with Turner syndrome have premature facial wrinkling. Acne is less common in teenage girls and women with Turner syndrome, though the reasons why are unclear.

Other physical features connected to the condition include long eyelashes, sometimes including an additional set of eyelashes, and unusual dermatoglyphics (fingerprints). Some women with Turners report being unable to create fingerprint passwords due to hypoplastic dermatoglyphics. Unusual dermatoglyphics are common to chromosome anomalies and in the case of Turners may be a consequence of fetal lymphedema. Keloid scars, or raised hypertrophic scars growing beyond the boundaries of the original wound, are potentially associated with Turner syndrome; however, the association is underresearched. Though traditional medical counselling on the topic urges conservatism about elective procedures such as ear piercing due to the risk of severe scarring, the actual consequences are unclear. Keloids in Turner syndrome are particularly frequent following surgical procedures to reduce neck webbing. Turner syndrome has been associated with unusual patterns of hair growth, such as patches of short and long hair. Armpit and pubic hair is often sparse, while arm and leg hair is often thick. Though armpit hair is reduced in amount and thickness, the pattern in which it is implanted in the skin is as in men, rather than as in women.

Cardiac
Approximately half of individuals with Turner syndrome have congenital heart defects. CHDs associated with Turner syndrome include bicuspid aortic valves (30%), coarctation of the aorta (15%), and abnormalities of the arteries in the head and neck. A rare but potentially fatal complication of heart defects in Turner syndrome is aortic dissection, where the inner layer of the aorta tears open. Aortic dissection is six times as common in females with Turner syndrome as the general population and accounts for 8% of all deaths in the syndrome. The risk is substantially increased for individuals with bicuspid aortic valves, who make up 95% of patients with aortic dissection compared to 30% of all Turners patients, and coarctation of the aorta, who make up 90% and 15% respectively.Coronary artery disease onsets earlier in life in women with Turner syndrome compared to controls, and mortality from cardiac events is increased. This is thought to be in part a function of the relationship between Turner syndrome and obesity; women with Turner syndrome have a higher percentage of body fat for their weight than control women, and their short stature makes weight control more difficult. Though coronary artery disease is frequently thought a disease of older adults, young women with Turner syndrome are more likely to develop the disease than their 46,XX peers. Treatment recommendations for women with Turner syndrome and coronary artery disease are as in the general population, but as Turners increases the risk of type 2 diabetes, women with insulin resistance must weigh up the benefits of prophylactic or early statin treatment with the risk of diabetes.

Internal medicine
Turner syndrome is associated with a broad variety of health considerations, such as liver and kidney issues, obesity, diabetes, and hypertension. Liver dysfunction is common in women with Turner syndrome, with 50%–80% having elevated liver enzymes. Non-alcoholic fatty liver disease is increased in prevalence in Turner syndrome, likely related in part to both conditions associations with obesity. Hepatic vascular diseases are also seen in the syndrome as an aspect of Turner syndromes broader vascular and cardiac impacts. Primary biliary cholangitis is more common in 45,X0 than 46,XX women. An unclear association exists between estrogen replacement therapy and liver dysfunction in Turner syndrome; some studies imply estrogen therapy worsens such conditions, while others imply improvement.

Kidney issues, such as horseshoe kidney, are sometimes observed in Turner syndrome. Horseshoe kidney, where the kidneys are fused together in a U-shape, occurs in around 10% of Turners cases compared to less than 0.5% of the general population. A missing kidney is observed in as many as 5% of individuals with Turner syndrome, compared to around 0.1% of the population. A duplicated ureter, where two ureters drain a single kidney, occurs in as much as 20%–30% of the Turner syndrome population. Kidney malformations in Turner syndrome may be more common in mosaicism than in the full 45,X0 karyotype. Serious complications of the kidney anomalies associated with Turner syndrome are rare, although there is some risk of issues such as obstructive uropathy, where the flow of urine from the kidneys is blocked.Women with Turner syndrome are more likely than average to have high blood pressure; as many as 60% of women with the condition are hypertensive. Isolated diastolic hypertension often precedes systolic hypertension in the condition and may develop at a young age. Treatments for hypertension in Turner syndrome are as in the general population.Approximately 25%–80% of women with Turner syndrome have some level of insulin resistance, and a minority develop type 2 diabetes. The risk of diabetes in Turner syndrome varies by karyotype and appears to be raised by specific deletions of the short arm of the X chromosome (Xp). One study found that while a relatively low 9% of women with Xq (long arm) deletions had type 2 diabetes, 18% of those with full 45,X0 karyotypes did, as well as 23% with Xp deletions. 43% of women with isochromosome Xq, who both lacked the short arm and had an additional copy of the long arm, developed type 2 diabetes. Though part of the diabetes risk in Turner syndrome is a function of weight control, some is independent; age- and weight-matched women with non-Turners ovarian failure have a lower diabetes risk than in Turner syndrome. Growth hormone treatment plays an unclear role in diabetes risk, as does estrogen supplementation.The association between Turner syndrome and other diseases, such as cancer, is unclear. Overall, women with Turner syndrome do not appear more likely to develop cancer than women with 46,XX karyotypes, but the specific pattern of what cancers are highest risk seems to differ. The risk of breast cancer appears lower in Turners than in control women, perhaps due to decreased levels of estrogen. Neuroblastoma, a cancer of infancy and early childhood, has been reported in girls with Turner syndrome. Tumours of the nervous system, both the central nervous system and the peripheral nervous system, are overrepresented amongst cancers in Turner syndrome. Furthermore, about 5.5% of Turner syndrome individuals have an extra, abnormal small supernumerary marker chromosome (sSMC) which consists of part of a Y chromosome. This partial Y chromosome-bearing sSMC may include the SRY gene located on the p arm of the Y chromosome at band 11.2 (notated as Yp11.2). This gene encodes the testis-determining factor protein (also known as sex-determining region Y protein). Turner syndrome individuals with this SRY gene-containing sSMC have a very real increased risk of developing gonadal tissue neoplasms such as gonadoblastomas and in situ seminomas (also termed dysgerminomas to indicate that this tumor has the pathology of the testicular tumor, seminoma, but develops in ovaries). In one study, 34 Turner syndrome girls without overt evidence of these tumors were found at preventative surgery to have a gonadoblastoma (7 cases), dysgerminoma (1 case), or non-specific in situ gonadal neoplasm (1 case). Turner syndrome girls with this sSMC otherwise have typical features of the Turner syndrome except for a minority who also have hirsutism and/or clitoral enlargement. Surgical removal of the gonads has been recommended to remove the threat of developing these sSMC-associated neoplasms. Tuner syndrome individuals with an sSMC that lacks the SRY gene are not at an increased risk of developing these cancers.

Sensory
Hearing loss is common in Turner syndrome. Though at birth hearing is generally normal, chronic middle ear problems are frequent throughout childhood, which can cause permanent conductive hearing loss. In adulthood, sensorineural hearing loss occurs more often than in 46,XX women and at younger ages; though differing thresholds of hearing loss make it difficult to compare between studies, younger adult women with Turner syndrome are routinely found to have disproportionate rates of hearing issues, with sometimes up to half of women in their 20s and 30s having poor hearing. This hearing loss is progressive; at the age of 40, women with Turner syndrome have equivalent hearing loss to 46,XX women aged 60, on average. Cohort studies imply hearing loss may be more common in women who also have metabolic syndrome. The high prevalence of sensorineural hearing loss in Turner syndrome appears to be related to SHOX deficiency.Ocular and visual disorders are also increased in prevalence in Turner syndrome. More than half of individuals with Turner syndrome have some form of eye disorder. This may be a consequence of shared genes on the X chromosome in both eye and ovary development. Nearly half of cases have hyperopia or myopia, usually mild. Strabismus, or misalignment of the eye, occurs in around one-fifth to one-third of girls with Turner syndrome. As with strabismus outside the Turners context, it may be treated with glasses, patching, or surgical correction. Esotropia, where the eye turns inwards, is more common than exotropia, where it turns outwards. Ptosis, or a drooping eyelid, is a common facial manifestation of Turner syndrome; it usually has no appreciable impact on vision, but severe cases may limit visual range and require surgical correction. The rate of red-green colourblindness in Turner syndrome is 8%, the same as in men. This is due to red-green colourblindness being an X-linked recessive condition; in people with a single X chromosome, whether normal males or Turner females, only a single mutated X is necessary for symptoms. Red-green colourblindness may be underdiagnosed in the Turner context, as the rarity of the condition in females reduces the likelihood of screening, and practitioners may not connect that the karyotype of Turner syndrome increases the risk from the female baseline.

Autoimmune
Women with Turner syndrome are two to three times as likely to develop autoimmune disorders as the general population. Specific autoimmune disorders linked to Turner syndrome include Hashimotos disease, vitiligo, psoriasis and psoriatic arthritis, alopecia, and celiac disease. Inflammatory bowel disease is also common, while the prevalence of type 1 diabetes is unclear, though appears increased.Thyroid disease is common in Turner syndrome. Hypothyroidism is prevalent; 30%–50% of women with Turner syndrome have Hashimotos disease, where the thyroid gland is slowly destroyed by an autoimmune reaction. By age 50, half of women with Turner syndrome have subclinical or clinical hypothyroidism. Hyperthyroidism and Graves disease are also increased in prevalence, though more modestly. The Turners presentation of hyperthyroidism is as in the general population, while the presentation of hypothyroidism is often atypical, with a mild early presentation yet a more severe progression. Women with isochromosome Xq are more likely to develop autoimmune thyroid disease than women with other forms of Turner syndrome.The risk of irritable bowel syndrome is increased around fivefold in Turner syndrome, and that of ulcerative colitis around fourfold. Celiac disease is also increased in prevalence, with around 4%–8% of Turners patients having comorbid celiac disease compared to 0.5%–1% of the general population. Diagnosis of such conditions is difficult due to their nonspecific early symptoms. In the Turners context, diagnosis may in particular be missed due to growth delay; such conditions cause growth delay and failure to thrive when they onset in childhood, but as girls with Turner syndrome already have such delay, symptoms may be overlooked and ascribed to the original condition.Alopecia areata, or recurrent patchy hair loss, is three times as common in Turner syndrome as the general population. Alopecia in the Turner syndrome context is frequently treatment-resistant, also seen in other chromosome aneuploidies such as Down syndrome. Psoriasis is common in Turner syndrome, although the precise prevalence is unclear. Turners psoriasis may be related to growth hormone treatment, as psoriasis as a side effect of such therapies has been reported in patients without the karyotype. Psoriasis may progress to psoriatic arthritis, and this progression may be more common in Turner syndrome. Vitiligo has been reported in conjunction with Turner syndrome, but the risk is unclear and may be a side effect of increased clinical attention to autoimmune disease in this population.

Puberty
Puberty is delayed or absent in Turner syndrome. A 2019 literature review found that 13% of women with a 45,X0 karyotype could expect to experience spontaneous thelarche (breast development), while 9% would undergo spontaneous menarche (beginning of menstruation). These numbers were higher in women with mosaic Turners; 63% with 45,X0/46,XX karyotypes experienced spontaneous thelarche and 39% spontaneous menarche, while 88% with 45,X0/47,XXX (the presence of a trisomy X cell line) experienced spontaneous thelarche and 66% spontaneous menarche. Unexpectedly, women with Y-chromosome cells also had increased rates of thelarche and menarche compared to the 45,X0 baseline, at 41% and 19%. However, few women with trisomy X or Y-chromosome cell lines were covered in the review, impeding extrapolation from these results. 6% of women with Turner syndrome have regular menstrual cycles; the rest experience primary or secondary amenorrhea or other menstrual dysfunction.: 84 In girls with Turner syndrome who do not experience spontaneous puberty, exogenous estrogen is used to induce and maintain feminization. Estrogen replacement is recommended to begin at around age 11–12, although some parents prefer to delay the induction of puberty in girls with lower social and emotional preparedness. The dose of estrogen in induced puberty begins at 10% of adult estrogen levels and is steadily increased at six-month intervals, with a full adult dose attained two to three years after the beginning of treatment. Estrogen replacement may interfere with growth hormone therapy, due to the closing effects of estrogen on growth plates; individuals must weigh up their preferences for taller height versus greater feminization.: 97–103

Fertility
Women with Turner syndrome are infertile. Only 2%–5% are capable of pregnancy without fertility treatment, most with mosaic karyotypes. Early in gestation, fetuses with Turner syndrome have a normal number of gametes in their developing ovaries, but this starts decreasingly rapidly as early as 18 weeks of pregnancy; by birth, girls with the condition have markedly reduced follicular counts. Women with Turner syndrome who wish to raise families but are incapable of conception with their own oocytes have the options of adoption or of pregnancy with donor eggs; the latter has a comparable success rate to donor pregnancy in women with 46,XX karyotypes.Pregnancy in Turner syndrome is inherently high-risk; the maternal death rate is 2%.Usually, estrogen replacement therapy is used to spur the growth of secondary sexual characteristics at the time when puberty should onset. While very few women with Turner syndrome menstruate spontaneously, estrogen therapy requires a regular shedding of the uterine lining ("withdrawal bleeding") to prevent its overgrowth. Withdrawal bleeding can be induced monthly, like menstruation, or less often, usually every three months, if the patient desires. Estrogen therapy does not make a woman with nonfunctional ovaries fertile, but it plays an important role in assisted reproduction; the health of the uterus must be maintained with estrogen if an eligible woman with Turner Syndrome wishes to use IVF (using donated oocytes).Especially in mosaic cases of Turner syndrome that contains Y-chromosome (e.g. 45,X/46,XY) due to the risk of development of ovarian malignancy (most common is gonadoblastoma) gonadectomy is recommended. Turner syndrome is characterized by primary amenorrhoea, premature ovarian failure (hypergonadotropic hypogonadism), streak gonads and infertility (however, technology (especially oocyte donation) provides the opportunity of pregnancy in these patients). Failure to develop secondary sex characteristics (sexual infantilism) is typical.

Cognition
Neurodevelopmental
Individuals with Turner syndrome have normal intelligence. Verbal IQ is usually higher than performance IQ; one review of thirteen studies found an average verbal IQ of 101 compared to an average performance IQ of 89.People with Turner syndrome have normal intelligence, and demonstrate relative strengths in verbal skills, but may exhibit weaker nonverbal skills – particularly in arithmetic, select visuospatial skills, and processing speed. Turner syndrome does not typically cause intellectual disability or impair cognition. However, learning difficulties are common among women with Turner syndrome, particularly a specific difficulty in perceiving spatial relationships, such as nonverbal learning disorder. This may also manifest itself as a difficulty with motor control or with mathematics. While it is not correctable, in most cases it does not cause difficulty in daily living. Most Turner syndrome patients are employed as adults and lead productive lives.
Also, a rare variety of Turner syndrome, known as "Ring-X Turner syndrome", has about a 60% association with intellectual disability. This variety accounts for around 2–4% of all Turner syndrome cases.

Psychological
Social difficulties appear to be an area of vulnerability for young women. Counseling affected individuals and their families about the need to carefully develop social skills and relationships may prove useful in advancing social adaptation. Women with Turner syndrome may experience adverse psychosocial outcomes which can be improved through early intervention and the provision of appropriate psychological and psychiatric care. Genetic, hormonal, and medical problems associated with Turner syndrome are likely to affect psychosexual development of female adolescent patients, and thus influence their psychological functioning, behavior patterns, social interactions, and learning ability. Although Turner syndrome constitutes a chronic medical condition, with possible physical, social, and psychological complications in a womans life, hormonal and estrogen replacement therapy, and assisted reproduction, are treatments that can be helpful for Turner syndrome patients and improve their quality of life. Research shows a possible association between age at diagnosis and increased substance use and depressive symptoms.

Prenatal
Despite the excellent postnatal prognosis, 99% of Turner syndrome conceptions are thought to end in miscarriage or stillbirth, and as many as 15% of all spontaneous abortions have the 45,X karyotype. Among cases that are detected by routine amniocentesis or chorionic villus sampling, one study found that the prevalence of Turner syndrome among tested pregnancies was 5.58 and 13.3 times higher, respectively, than among live neonates in a similar population.

Cause
Turner syndrome is caused by the absence of one complete or partial copy of the X chromosome in some or all the cells. The abnormal cells may have only one X (monosomy) (45,X) or they may be affected by one of several types of partial monosomy like a deletion of the short p arm of one X chromosome (46,X,del(Xp)) or the presence of an isochromosome with two q arms (46,X,i(Xq)) Turner syndrome has distinct features due to the lack of pseudoautosomal regions, which are typically spared from X-inactivation. In mosaic individuals, cells with X monosomy (45,X) may occur along with cells that are normal (46,XX), cells that have partial monosomies, or cells that have a Y chromosome (46,XY). The presence of mosaicism is estimated to be relatively common in affected individuals (67–90%).The (46,X,i(Xq) isochromosome in the Turner syndrome is classified as an small supernumerary marker chromosome (sSMC). Two of the types of sSMCs in this syndrome contain parts of the genetic material from either an X or, much less frequently, Y chromosome and may or may not contain an XIST gene. In normal females, the XIST gene occurs on the X chromosome inherited from her mother but not on the X chromosome inherited from her father. The gene is not present on Y chromosomes and in normal females resides on and functions to inactivate many of the genes located on its own maternal but not the fathers X chromosome. Turner syndrome females with (46,X,i(Xq) sSMC consisting of a partial X chromosome that does not contain the XIST gene express at least some of this sSMCs genetic material and therefore contain excesses of this material. In consequence, they have a more serious form of the Turner syndrome that ranges form moderately severe to extremely severe. The extremely severe cases have anencephaly (absence of a major portion of the brain, skull, and scalp), agenesis of the corpus callosum (lack of the thick tract of nerve fibers that connect the left and right cerebral hemispheres), and complex heart deformities. Individuals with Turner syndrome that have partial X chromosome containing(46,X,i(Xq) sSMCs that have the XIST gene do not express this sSMCs genetic material and do not have the more severe manifestations of the syndrome.

Inheritance
In the majority of cases where monosomy occurs, the X chromosome comes from the mother. This may be due to a nondisjunction in the father. Meiotic errors that lead to the production of X with p arm deletions or abnormal Y chromosomes are also mostly found in the father. Isochromosome X or ring chromosome X on the other hand are formed equally often by both parents. Overall, the functional X chromosome usually comes from the mother.
In most cases, Turner syndrome is a sporadic event, and for the parents of an individual with Turner syndrome the risk of recurrence is not increased for subsequent pregnancies. Rare exceptions may include the presence of a balanced translocation of the X chromosome in a parent, or where the mother has 45,X mosaicism restricted to her germ cells.

Diagnosis
Prenatal
Turner syndrome may be diagnosed by amniocentesis or chorionic villus sampling during pregnancy.
Usually, fetuses with Turner syndrome can be identified by abnormal ultrasound findings (i.e., heart defect, kidney abnormality, cystic hygroma, ascites). In a study of 19 European registries, 67.2% of prenatally diagnosed cases of Turner syndrome were detected by abnormalities on ultrasound. 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies.An increased risk of Turner syndrome may also be indicated by abnormal triple or quadruple maternal serum screen. The fetuses diagnosed through positive maternal serum screening are more often found to have a mosaic karyotype than those diagnosed based on ultrasonographic abnormalities, and conversely, those with mosaic karyotypes are less likely to have associated ultrasound abnormalities.

Postnatal
Turner syndrome can be diagnosed postnatally at any age. Often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands and feet. However, it is also common for it to go undiagnosed for several years, often until the girl reaches the age of puberty and fails to develop typically (the changes associated with puberty do not occur). In childhood, a short stature can be indicative of Turner syndrome.A test called a karyotype, also known as a chromosome analysis, analyzes the chromosomal composition of the individual. This is the test of choice to diagnose Turner syndrome.

Treatment
As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms. While most of the physical findings are harmless, significant medical problems can be associated with the syndrome. Most of these significant conditions are treatable with surgery and other therapies including hormonal therapy.
Growth hormone, either alone or with a low dose of androgen, will increase growth and probably final adult height. Growth hormone is approved by the U.S. Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans </s>