Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.

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...

Topics

Adrenal Hyperplasia, Congenital
Disorders of Sex Development
Genotype
Humans
Infant, Newborn
Mutation
Severity of Illness Index
Steroid 21-Hydroxylase

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