User:Mr. Ibrahem/Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands. Symptoms depend on the type. This may include dehydration, vomiting, diarrhea, short stature, and abnormal primary or secondary sex characteristics. Complications may include adrenal crisis. Symptom onset varies from at birth to early adulthood.

It results from a deficiency of an enzyme required to make cortisol in the adrenal cortex. This may result in low levels of cortisol, low levels or aldosterone, or high levels of androgens. They are inherited in an autosomal recessive manner. Some forms are tested for as part of newborn screening programs.

While there is no cure, effective treatment exists. Those with classic disease require treatment starting soon after birth, with hydrocortisone and fludrocortisone. Increased doses are often needed during times of stress. Some may also require surgery. Those with nonclassic disease may not require specific treatment or may use low dose hydrocortisone.

While severe congenital adrenal hyperplasia is rare, affecting about 1 in 10,000 people; mild disease occurs in up to 1 in 100. Among inherited metabolic disorders, it is a relatively common. The condition was first clearly described in 1865 by Luigi De Crecchio, when he dissected a body that had body hair typical for a male, a uterus, a very large adrenal glands.