Nonclassic adrenal hyperplasia

被引：49

作者：

Speiser, Phyllis W. ^{[1
,2
]}

机构：

[1] Schneider Childrens Hosp, New Hyde Pk, NY 11040 USA

[2] NYU, Sch Med, New York, NY USA

来源：

REVIEWS IN ENDOCRINE & METABOLIC DISORDERS | 2009年 / 10卷 / 01期

关键词：

Adrenal hyperplasia; Congenital; Puberty; Precocious; Adrenarche; Steroid; 21-hydroxylase; STEROID 21-HYDROXYLASE DEFICIENCY; 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY; PEDIATRIC-ENDOCRINE-SOCIETY; CONSENSUS STATEMENT; PREMATURE PUBARCHE; PRETERM INFANTS; CYP21; GENE; MUTATIONS; CHILDREN;

D O I：

10.1007/s11154-008-9097-x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：77 / 82

页数：6

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