Nonclassic Congenital Adrenal Hyperplasia

被引：70

作者：

Witchel, Selma Feldman ^{[1
]}

Azziz, Ricardo ^{[2
,3
]}

机构：

[1] Univ Pittsburgh, Sch Med, Childrens Hosp Pittsburgh, Div Pediat Endocrinol,UPMC, Pittsburgh, PA 15224 USA

[2] Cedars Sinai Med Ctr, Dept Obstet & Gynecol, Los Angeles, CA 90048 USA

[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Obstet & Gynecol, Los Angeles, CA 90095 USA

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY | 2010年

关键词：

D O I：

10.1155/2010/625105

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

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页数：11

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