Congenital adrenal hyperplasia (CAH) is a a recessive congenital birth defect, meaning patients must inherit a copy of the CAH gene from each parent to have the disorder. In patients with CAH, there is an enzyme deficiency that prevents the adrenal glands (which are located atop the kidneys) from producing cortisol (a hormone which governs the body's energy supply, blood sugar, and reaction to stress). CAH is one of the most common recessive birth defects in the world.
In the mild or "nonclassical" form of CAH , which is more common, the adrenal gland compensates, and cortisol production returns to normal. In the severe or "classical" form of the disease, there is a complete lack of cortisol, which may be combined with a lack of aldosterone (a hormone that maintains proper salt/water balance).
Children with classical CAH may experience feeding problems and severe dehydration, so prompt treatment is necessary. Chemical disruptions in CAH also lead to high levels of male hormones, called androgens, which come from the adrenal gland. Androgens fuel the development of male characteristics in children with CAH. Girls with the severe form of CAH are often born with abnormalities of the external genitals. Children with both forms of CAH may also experience early puberty and growth problems. Adults with CAH may face fertility problems.
Blood testing of newborns for CAH is now required in all states, ensuring prompt diagnosis of classical CAH and immediate medical treatment so children can begin living healthy lives.
Patient and families with CAH usually have different needs according to their type of CAH. Also their needs are different according to their age and stage in life.
Comprehensive Center for Congenital Adrenal Hyperplasia
Attn: Maria Aranda
NewYork-Presbyterian/Weill Cornell Medical Center
525 East 68th Street, Box 103
New York, NY 10065
Appointments and Referrals
Pediatric Endocrinology Emergencies
(212) 746-6700, pager # 17309
Adult Endocrinology Emergencies
For immediate emergency assistance, please call 911