You may start by seeing your family doctor or your child's pediatrician. He or she may refer you to a doctor who specializes in the diagnosis and treatment of conditions related to the adrenal glands (pediatric endocrinologist).
Here's some information to help you prepare for your appointment. Consider taking a family member or friend along for support and to help you remember information.
What you can do
To prepare for your appointment:
- Find out if your child needs to follow any pre-appointment restrictions, such as changing food or liquid intake to get ready for blood and urine tests.
- Make a list of 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, any medical conditions, and the names and dosages of any medications, vitamins, herbs or other supplements.
- Prepare questions you want to ask your doctor.
Some basic questions to ask your doctor may 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?
- What are the expected results of treatment?
- 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?
Don't hesitate to ask any other questions during your appointment.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Be ready to answer them to reserve time to go over points you want to focus on. For example, your doctor may ask:
- What are your child's symptoms?
- When did you first begin noticing these symptoms?
- Has anyone in your family been diagnosed with congenital adrenal hyperplasia? If so, do you know how it was treated?
- Are you planning to have more children?
Aug. 11, 2017
- Congenital adrenal hyperplasia. National Organization for Rare Diseases. https://rarediseases.org/rare-diseases/congenital-adrenal-hyperplasia/. Accessed Oct. 7, 2016.
- Congenital adrenal hyperplasia. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/1467/congenital-adrenal-hyperplasia. Accessed Oct. 7, 2016.
- Overview of congenital adrenal hyperplasia. Merck Manual Professional Version. http://www.merckmanuals.com/professional/pediatrics/endocrine-disorders-in-children/overview-of-congenital-adrenal-hyperplasia. Accessed Oct. 7, 2016.
- Bomberg EM, et al. The relation of peripubertal and pubertal growth to final adult height in children with classic congenital adrenal hyperplasia. Journal of Pediatrics. 2015;166:743.
- Sarafoglou K, et al. Impact of hydrocortisone on adult height in congenital adrenal hyperplasia — the Minnesota cohort. Journal of Pediatrics. 2014;164:1141.
- Sarafoglou K, et al. Cases of congenital adrenal hyperplasia missed by newborn screening in Minnesota. JAMA. 2012;307:2371.
- Pediatric endocrinology fact sheet: Congenital adrenal hyperplasia (CAH) ― A guide for families. American Academy of Pediatrics and Pediatric Endocrine Society. https://www.aap.org/en-us/Documents/soen_confenital_adrenal_hyperplasia.pdf. Accessed Oct. 7, 2016.
- Yau M, et al. Prenatal diagnosis of congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics of North America. 2016;45:267.
- Maccabee-Ryaboy N, et al. Hypertension in children with congenital adrenal hyperplasia. Clinical Endocrinology. 2016;85:528.
- Lteif AN (expert opinion). Mayo Clinic, Rochester, Minn. Jan. 4, 2017.
Congenital adrenal hyperplasia