Treatments for CAH include medication and surgery as well as psychological support.1,2,3,4
- Classic CAH
Newborns with classic CAH should start treatment very soon after birth to reduce the effects of CAH. Classic CAH is treated with steroids that replace the low hormones.
- Infants and children usually take a form of cortisol called hydrocortisone.
- Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol.
- Patients with classic CAH also take another medicine, fludrocortisone, to replace aldosterone.
- Eating salty foods or taking salt pills may also help salt-wasters retain salt.5
The body needs more cortisol when it is under physical stress. Adults and children with classic CAH need close medical attention and may need to take more of their medication during these times. They may also need more medication if they:
- Have an illness with a high fever.
- Undergo surgery.
- Sustain a major injury.
People who have classic CAH need to wear a medical alert identification bracelet or necklace. To alert medical professionals in case of an emergency, the bracelet or necklace should read: "adrenal insufficiency, requires hydrocortisone." Adults or parents also need to learn how to give an injection of hydrocortisone if there is an emergency.
Patients with classic CAH need to take medication daily for their entire lives. If a patient stops taking his or her medication, symptoms will return.
The body makes different amounts of cortisol at different times in life, so sometimes a patient's dose of medication may be too high or too low. Taking too much medication to replace cortisol can cause symptoms of Cushing's syndrome. These include:
- Weight gain
- Slowed growth
- Stretch marks on the skin
- Rounded face
- High blood pressure
- Bone loss
- High blood sugar
It is important to alert the health care provider if these symptoms appear so that he or she can adjust the medication dose.
It may be possible for patients with nonclassic CAH to stop medication as adults if their symptoms go away.
- Classic CAH
Girls who are born with ambiguous external genitalia usually have surgery. For example, surgery is necessary if changes to the genitals have affected urine flow. Surgery to make the genitals look more female also can be done.
The Endocrine Society, which supports hormonal research and clinical practice, recommends that this feminizing surgery be considered during infancy. If it is done, the group recommends choosing an experienced surgeon who practices in a center that sees many CAH cases.6
The Congenital Adrenal Hyperplasia Research, Education & Support (CARES) Foundation strongly recommends delaying surgery until:
- The child is medically stable,
- Parents are fully informed of the risks and benefits, and
- A surgeon with expertise in this type of procedure is found.
Parents should also find a psychologist, social worker, or other mental health professional to support them in their decision making. It is important to find an experienced mental health provider whose expertise includes working with children who have CAH and their special needs.7
The CARES (Congenital Adrenal Hyperplasia Research Education and Support) Foundation provides a list of pediatric urological surgeons who are experienced with these types of operations and can help identify a qualified mental health professional.
- Nonclassic CAH
CAH Girls with nonclassic CAH have normal genitals, so they do not need surgery.
- National Library of Medicine, MedLine Plus. (n.d.). Congenital adrenal hyperplasia. Retrieved April 17, 2012, from http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm [top]
- The Hormone Foundation. (2010). Patient guide to congenital adrenal hyperplasia. Retrieved June 16, 2012, from http://www.hormone.org/patient-guides/2010/congenital-adrenal-hyperplasia [top]
- NIH Clinical Center. (n.d.). Patient education: Facts about CAH. Retrieved April 25, 2012 from http://www.cc.nih.gov/ccc/patient_education/pepubs/cah.pdf (PDF - 751 KB) [top]
- Screening, Technology and Research in Genetics (STAR-G) Project. (n.d.). Genetic fact sheet for parents: Congenital adrenal hyperplasia. Retrieved June 18, 2012, from http://www.newbornscreening.info/Parents/otherdisorders/CAH.html [top]
- National Adrenal Diseases Foundation. (n.d.) CAH: Standard treatment. Retrieved from: http://www.nadf.us/adrenal-diseases/congenital-adrenal-hyperplasia-cah/ [top]
- The Endocrine Society. (2010). Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society clinical practice guideline. Journal of Clinical Endocrinology & Metabolism, 95(9), 4133–4160. [top]
- Congenital Adrenal Hyperplasia Research Education & Support Foundation. (2007). Surgery considerations for girls with classical CAH. Retrieved June 26, 2012, from http://www.caresfoundation.org/dosing/surgery/ [top]