What is Turner Syndrome?
Turner syndrome (TS) is a chromosomal disorder affecting the development of females.
Normally, females have two X chromosomes in each cell, but females with TS are born with one X chromosome completely missing or structurally altered.
It is also known as Ullrich-Turner syndrome & gonadal dysgenesis, and it affects 1 in 2,000 live female births.
There are 3 possible chromosomal structural anomalies in Turner Syndrome – karyotyping (test that examines chromosomes in a sample of cells) is required for the diagnosis.
Monosomy X (45,X) - an X chromosome is absent (only 45 chromosomes
instead of the usual 46) - most severe observable characteristics -
occurs in approximately 50% of TS girls.
Partial X deletion - both X chromosomes are present, but one arm of one
X chromosome is malformed or missing - occurs in 30% of TS girls.
Mosaicism - chromosomal change present in only some of the cells -
symptoms of TS are less severe.
Signs & Symptoms of Turner Syndrome:
Short stature – most common, evident by age 5
Early loss of ovarian function – amenorrhea & infertility
Wide, short, webbed neck
Drooping eyes & cataracts
Frequent ear infections, hearing loss
Lymphedema (swelling) of the hands & feet
Skeletal abnormalities – scoliosis, osteoporosis
Heart defect – coarctation of the aorta
Glucose intolerance or Diabetes
Short stature is the most common visible characteristic & the only abnormality seen in 100% of patients with Turner Syndrome.
– They usually have intrauterine growth retardation
– Their growth rate is below normal during infancy & childhood, but most often it is not noticed until age 5-7.
– Average adult height is 4 ft 8 in.
– Women with TS have a growth hormone deficiency (GHD), in which growth & cell reproduction is stunted.
– GHD can be treated with human growth hormone (hGH) replacement.
Gonadal dysgenesis refers to abnormal or incomplete development of the ovary.
– Lack of estrogen & progesterone
– Occurs in more than 90% of TS patients
– Absence of breast development & feminine body contours
– No menstruation
– 30% of girls will enter partial puberty, but ovaries will eventually cease functioning.
– Estrogen & Progesterone replacement therapy can be given to induce puberty.
– Congenital heart defect occurs in approximately 30% of TS patients
– Hypertension is common in 40% of TS patients & should be treated vigorously.
– With advanced treatments available for women with Turner Syndrome, some women are able to achieve pregnancy – it is therefore important for her doctor to have an MRI done to check the status of the patient’s heart prior to pregnancy.
– Most people with TS have normal intelligence, however, over 1/3 of girls are diagnosed during elementary age or adolescence with development & learning issues.
– These include deficits in spatial visualization, math abilities, & social cognition.
– Nurse taking care of a female pediatric patient needs to be aware of the signs & symptoms of Turner Syndrome.
– Any girl who has unexplained growth failure should be further examined & will need to see a pediatric endocrinologist once TS is confirmed.
– For the TS patient, a delayed diagnosis makes it more difficult to achieve a productive, normal lifestyle as an adult.
– The pediatric nurse & school nurse will want to be especially careful not to miss the characteristics in Turner syndrome.