Article
Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.
The Turkish journal of pediatrics - 1 Jan 2000
Al-Agha Abdulmoein E, Ocheltree Ali H, Al-Tamimi Masha'el D
Abstract excerpt
Congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps necessary in the conversion of cholesterol to cortisol. The enzyme defects are transmitted as an autosomal recessive trait. Patients with a "classical" form of CAH usually present during the neonatal and early infancy period with adrenal insufficiency,...
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