Congenital adrenal hyperplasia history and symptoms
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Congenital adrenal hyperplasia main page |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Classic CAH salt-wasting CAH Baby girls with ambiguous genitalia with life-threatening cases of vomiting, weight loss and dehydration in a baby’s first few weeks of life or simple virilizing CAH but girls will have ambiguous genitalia. baby boys may have enlarged penises. nonclassic or late onset CAH Patients don't show any signs in early life but show premature pubarche, acne, hirsutism.
History and Symptoms
Congenital adrenal hyperplasia symotpms differ according to type of disease and gender of patient:
Classic CAH or early onset:
Classic cases of congenital adrenal hyperplasia come in two forms:
Salt-wasting CAH
- Baby girls with ambiguous genitalia.
- Baby boys may have enlarged penises and develop masculine features before puberty.
- Salt-wasting CAH can lead to life-threatening cases of vomiting, weight loss and dehydration in a baby’s first few weeks of life.
simple virilizing CAH
- Patients don't show hypotension, hyperkalemia and acidosis crisis but:
- Girls will have ambiguous genitalia.
- Baby boys may have enlarged penises.
Nonclassic or late onset CAH
Patients don't show any signs in early life but show premature puberty, acne, hirsutism, and menstrual irregularity.
- Children with CAH are at risk for adult short stature due to high levels of sex hormones causing premature epiphyseal closure.[1]
- Female patients with classic CAH have more male-typical palying[2]and greater aggressive tendencies.
- Fertility rates in women are low.[3]Hyperandrogenism results in anovulatory cycles.[4] Genital malformations from congenital ambiguous genitals may contribute to low fertility.[5]Careful management with monitoring of androgen levels during gestation is indicated.[6]
- Males show testicular adrenal tumors which are testicular masses of adrenal-like tissue.[7]They are more common in patients with the salt-losing form than the simple virilizing form.[8] They may lead to obstruction of seminiferous tubules and infertility. Other causes of low fertility is impaired spermatogenesis.[9]
- Fertility rates are related to the severity of the mutation.[10]