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Congenital adrenal hyperplasia
Author(s) -
Demirci Cem,
Witchel Selma Feldman
Publication year - 2008
Publication title -
dermatologic therapy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.595
H-Index - 68
eISSN - 1529-8019
pISSN - 1396-0296
DOI - 10.1111/j.1529-8019.2008.00216.x
Subject(s) - congenital adrenal hyperplasia , medicine , endocrinology , pathophysiology , hyperplasia , androgen , steroid 11 beta hydroxylase , androgen excess , secretion , 21 hydroxylase , steroid , hormone , obesity , polycystic ovary , insulin resistance
The congenital adrenal hyperplasias are a group of autosomal recessive disorders associated with impaired steroidogenesis. Several types of the congenital adrenal hyperplasias are associated with decreased cortisol production and excessive adrenal sex steroid secretion. Congenital adrenal hyperplasia due to 21‐hydroxylase deficiency is the most common and prototypic example of this group of disorders. Herein, we review the clinical features, pathophysiology, molecular genetics, and treatment of 21‐hydroxylase deficiency. There is also a brief discussion of other steroidogenic enzyme defects that are associated with clinical features due to excessive androgen secretion.