User:Mr. Ibrahem/Congenital adrenal hyperplasia
Medical condition / From Wikipedia, the free encyclopedia
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands.[4] Symptoms depend on the type.[1] This may include dehydration, vomiting, diarrhea, short stature, and abnormal primary or secondary sex characteristics.[1] Complications may include adrenal crisis.[1] Symptom onset varies from at birth to early adulthood.[1]
Congenital adrenal hyperplasia | |
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Adult female with untreated congenital adrenal hyperplasia from 1865 | |
Specialty | Endocrinology |
Symptoms | Dehydration, vomiting, diarrhea, short stature, abnormal sexual development[1] |
Usual onset | Birth to early adulthood[1] |
Duration | Lifetime[1] |
Types | Classic (salt wasting, simple virilizing), nonclassic[2] |
Causes | Genetic disorder (autosomal recessive)[1] |
Diagnostic method | Newborn screening, blood hormone testing, genetic testing[1] |
Differential diagnosis | Addison disease, disorder of sex development[1] |
Treatment | Hydrocortisone, fludrocortisone, surgery[3] |
Frequency | Classic: Rare[1] Nonclassic: 1%[1] |
It results from a deficiency of an enzyme required to make cortisol in the adrenal cortex.[5] This may result in low levels of cortisol, low levels or aldosterone, or high levels of androgens.[4] They are inherited in an autosomal recessive manner.[5] Some forms are tested for as part of newborn screening programs.[1]
While there is no cure, effective treatment exists.[1] Those with classic disease require treatment starting soon after birth, with hydrocortisone and fludrocortisone.[3] Increased doses are often needed during times of stress.[3] Some may also require surgery.[3] Those with nonclassic disease may not require specific treatment or may use low dose hydrocortisone.[3]
While severe congenital adrenal hyperplasia is rare, affecting about 1 in 10,000 people; mild disease occurs in up to 1 in 100.[1] Among inherited metabolic disorders, it is a relatively common.[6] 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.[7]