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Reviews in Endocrine and Metabolic Disorders

Published in:

01-03-2009

Nonclassic adrenal hyperplasia

Author: Phyllis W. Speiser

Published in: Reviews in Endocrine and Metabolic Disorders | Issue 1/2009

Abstract

Nonclassic adrenal hyperplasia is most commonly attributable to mutations in CYP21A2 (also termed CYP21) encoding steroid 21-hydroxylase. Partial deficiency of this enzyme causes an imbalance in cortisol synthesis with consequent adrenal androgen excess. Unlike more severe forms of congenital adrenal hyperplasia, this condition is rarely recognized in infants, but rather is a potential cause of premature adrenarche and pubarche in children, virilization in young women, and variable symptoms in young men. This article will review relevant clinical, hormonal and genetic aspects of nonclassic adrenal hyperplasia.

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Title: Nonclassic adrenal hyperplasia
Author: Phyllis W. Speiser
Publication date: 01-03-2009
Publisher: Springer US
Published in: Reviews in Endocrine and Metabolic Disorders / Issue 1/2009
Print ISSN: 1389-9155
Electronic ISSN: 1573-2606
DOI: https://doi.org/10.1007/s11154-008-9097-x

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