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Preparing for your appointment
By Mayo Clinic staffClassic 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, he or she may refer your child to a doctor who specializes in the diagnosis and treatment of conditions related to the adrenal glands (endocrinologist).
Here's some information to help you get well prepared 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.
- 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 that 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 any points you want to talk about in-depth. Your doctor may ask:
- 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 nauseous?
- 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?
- Congenital adrenal hyperplasia. Institute of Child Health and Human Development. http://www.nichd.nih.gov/health/topics/Congenital_Adrenal_Hyperplasia.cfm. Accessed Jan. 29, 2009.
- Stewart PM. The adrenal cortex. In: Kronenberg HM, et al. Kronenberg: Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa.: Saunders Elsevier; 2008:445
- Bora N. Congenital adrenal hyperplasia. In: Ferri FF. Ferri's Clinical Advisor 2009. St. Louis, Mo.: Mosby; 2008:216.
- Adrenal diseases — congenital adrenal hyperplasia (CAH): The facts you need to know. National Adrenal Diseases Foundation. http://www.nadf.us/diseases/cah.htm. Accessed Jan. 29, 2009.
- Nieman LK. Genetics and clinical presentation of nonclassic (late-onset) congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency. http://www.uptodate.com/home/index.html. Accessed Jan. 29, 2009.
- Merke DP. Genetics and clinical presentation of classic congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency. http://www.uptodate.com/home/index.html. Accessed Jan. 29, 2009.
- Parks JS, et al. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, et al. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Saunders Elsevier; 2007:2360.
- Diamond DA. Sexual differentiation: Normal and abnormal. In: Wein AJ. Wein: Campbell-Walsh Urology. 9th ed. Saunders Elsevier; 2007:3799.
- Gastaud F, et al. Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism. 2007;92:1391.
- Nieman LK. Treatment of classic congenital adrenal hyperplasia due to CYP21A2 (21-hydroxylase) deficiency in adults. http://www.uptodate.com/home/index.html. Accessed Jan. 29, 2009.
- Nippoldt TB (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 4, 2009.
