期刊
JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY
卷 30, 期 5, 页码 520-534出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jpag.2017.04.001
关键词
Congenital adrenal hyperplasia; CYP21A2; Ambiguous genitalia; Premature pubarche; Hyperandrogenism; Premature adrenarche
资金
- NIDA NIH HHS [R21 DA037958] Funding Source: Medline
The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21. The clinical features associated with each disorder of adrenal steroidogenesis represent a clinical spectrum that reflect the consequences of the specific mutations. 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 preservation of fertility. For adolescent and adult men, prevention and early treatment of testicular adrenal rest tumors is beneficial. In this article key aspects regarding pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia are reviewed.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据