Classic congenital adrenal hyperplasia is usually detected at birth or in early infancy when baby girls show ambiguous genitalia or when babies of both sexes show signs of severe illness. If your baby is vomiting, lethargic or showing other signs of severe illness, seek immediate medical care.
In nonclassic congenital adrenal hyperplasia, you may first make an appointment when you notice signs and symptoms of early puberty — sometimes very early — in your toddler or older child. After your family doctor or your child's pediatrician evaluates your child, your child may be referred to a doctor who specializes in the diagnosis and treatment of conditions related to the adrenal glands (endocrinologist).
In some cases, signs and symptoms of nonclassic congenital adrenal hyperplasia may not develop in women until the teenage or young adult years. Indications of the condition in these cases may include irregular or lack of menstrual periods, unwanted male-pattern hair growth in women (hirsutism) or infertility.
Here's some information to help you prepare for your appointment.
What you can do
- Find out if your child needs to follow any pre-appointment restrictions, such as changing his or her food or liquid intake to get ready for blood and urine tests.
- Write down any signs and symptoms your child has been experiencing, and for how long.
- Make a list of your child's key medical information, including recent illnesses your child has had and the names of any medications he or she is taking or has recently taken.
- Write down the questions you want to be sure to ask your doctor.
For congenital adrenal hyperplasia, some basic questions to ask your doctor include:
- What is likely causing my child's signs and symptoms?
- Are there any other possible causes for these symptoms?
- What kinds of tests does my child need?
- What treatment approach do you recommend?
- Will treatment slow down the rate at which my child is sexually maturing?
- What are the possible side effects of treatment?
- How will you monitor my child's health over time?
- What is my child's risk of long-term complications?
- Do you recommend that my child receive psychological counseling?
- Do you recommend that our family meet with a genetic counselor?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time if you don't understand something.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over points you want to talk about in-depth. Your doctor may ask:
Jan. 22, 2015
- What are your child's symptoms?
- When did your first begin noticing these symptoms?
- Do your child's symptoms include feeling fatigued or faint?
- Do your child's symptoms include feeling nauseated?
- Is your child experiencing any social problems related to his or her early sexual development?
- Has anyone in your family been diagnosed with congenital adrenal hyperplasia?
- Are you planning to have more children?
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- Congenital adrenal hyperplasia. The Merck Manuals: The Merck Manual for Health Care Professionals. http://www.merckmanuals.com/professional/pediatrics/endocrine_disorders_in_children/congenital_adrenal_hyperplasia.html?qt=congenital adrenal hyperplasia&alt=sh. Accessed Sept. 27, 2013.
- Speiser P, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society clinical practice guideline. Journal of Endocrinology & Metabolism. 2010;95:4133.
- Frisen L, et al. Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. Journal of Clinical Endocrinology & Metabolism. 2009;94:3432.
- Nippoldt TB (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 7, 2013.
- Nieman LK, et al. Diagnosis and treatment of nonclassic (late-onset) congenital adrenal hyperplasia due to 21-hydroxylase deficiency. http://www.uptodate.com/home. Accessed Sept. 29, 2013.
- Li-Ng M, et al. Congenital adrenal hyperplasia. First Consult. https://www.clinicalkey.com. Accessed Sept. 29, 2013.
- Witchel SF, et al. Prenatal treatment of congenital adrenal hyperplasia — Not standard of care. Journal of Genetic Counseling. 2012;21:615.
- Schober J, et al. Disorders of sex development: Summaries of long-term outcome studies. Journal of Pediatric Urology. 2012;8:616.
- Cheng TQ, et al. Treatment outcomes in congenital adrenal hyperplasia. Advances in Pediatrics. 2012;59:269.
- Nieman LK, et al. Treatment of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults. http://www.uptodate.com/home. Accessed Sept. 26, 2013.
- Chitty LS, et al. Prenatal development of disorders of sex development. Journal of Pediatric Urology. 2012;8:576.