Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia
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DOI：
10.1177/003591577006301031
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发表时间：
1970-10
影响因子：
17.3
通讯作者：
Yusra Sheikh
中科院分区：
文献类型：
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作者：
Yusra Sheikh
先天性肾上腺增生症（CAH）是一个常染色体隐性遗传疾病家族，它破坏了肾上腺类固醇的合成。最常见的形式是由于21-羟化酶缺乏与位于染色体6p 21的CYP 21 A2基因突变有关。与每种肾上腺类固醇生成障碍相关的临床特征代表了反映特定突变后果的临床谱。治疗目标包括受影响儿童的正常线性生长速度和“按时”青春期。对于青少年和成年女性，治疗目标包括月经规律化、预防多毛症进展和保持生育能力。对于青少年和成年男性，预防和早期治疗睾丸肾上腺休止瘤是有益的。本文将回顾CAH的病理生理学、诊断和治疗的关键方面。
The congenital adrenal hyperplasias (CAH) comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to21-hydroxylase deficiency associated with mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features associated with each disorder of adrenal steroidogenesis represent a clinical spectrum reflecting 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. This article will review key aspects regarding pathophysiology, diagnosis, and treatment of CAH.