Abstract:The congenital adrenal hyperplasias (CAH) comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to21-hydroxylase deficiency associated with mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features associated with each disorder of adrenal steroidogenesis represent a clinical spectrum reflecting the consequences of the specific mutations. Treatment goals include normal linear growth velocity and "on-time" puberty in af… Show more
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