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What is Congenital Adrenal Hyperplasia (CAH)?

Congenital Adrenal Hyperplasia (CAH) is a family of inherited disorders affecting the adrenal gland. Over 90% of those diagnosed with CAH are affected by 21-hydroxylase deficiency. Inherited in severe, moderate and mild forms, the major types of CAH are:

Classical CAH – The severe form of CAH or Classical CAH can result in life-threatening imbalances in salt and hormone levels. If undetected at birth, Classical CAH can lead to adrenal crisis and death. Frequently, newborn babies show no outward signs of the disorder and are sent home only to present a few weeks later for urgent medical attention at a time when they are beyond resuscitation. Classical CAH also is the most common cause of urogenital birth defects in affected females.
           
Non-Classical CAH – The mild form of CAH may cause symptoms at anytime from infancy through adulthood. While each individual presents differently, common symptoms include: premature development of body hair, body odor, rapid growth spurt, but ultimately short stature as adult, early puberty, severe acne, anxiety, depression, mood swings, migraines and infertility.

Frequency
The genetic frequency of Classical CAH is approximately 1 in 10-15,000 births. NCAH affects 1 in 100 to 1 in 1000 in the general population, depending upon the ethnic composition of a given community, since its frequency varies in different ethnic groups. For example, it affects one in 27 Ashkenazi Jews, one in 40 Hispanics, one in 53 Croatians, and one in 300 Italians.

Inheritance
CAH affects males and females in equal numbers. For a child to be born with any form of CAH, both parents must carry a gene for the disorder.

Treatment
All forms of CAH are managed through oral medication that regulates hormone levels and replaces hormones not made by the body.

Long Term Effects
If not detected or treated, Classical CAH may lead to adrenal crisis and death within a few weeks of life. Non-classical CAH can result in long term quality life issues, as well as growth problems and early puberty in childhood. However, despite the fact that there is no cure for CAH at this time; if treated properly, those affected by CAH can expect to live normal lives.

updated May 19, 2007