The next 150 years of congenital adrenal hyperplasia.
The next 150 years of congenital adrenal hyperplasia.
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DOI：
10.1016/j.jsbmb.2015.05.013
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发表时间：
2015-09
期刊：
影响因子：
--
通讯作者：
Auchus RJ
中科院分区：
文献类型：
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作者：
Turcu AF;Auchus RJ
先天性肾上腺增生症（CAH）是一组皮质醇生物合成的常染色体隐性缺陷。自 150 年前第一份报告的描述以来，已经取得了实质性进展。本文回顾了 CAH 遗传学、诊断和治疗方面的一些最新进展。此外，我们强调需要取得进一步进展的方面，其中包括针对轻度表型和一些罕见疾病的更好的诊断方式，阐明导致相同基因型患者出现不同表型的表观遗传因素，以及扩大控制肾上腺雄激素过多的治疗方案。
Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in cortisol biosynthesis. Substantial progress has been made since the description of the first report, 150 years ago. This article reviews some of the recent advances in the genetics, diagnosis and treatment of CAH. In addition, we underline the aspects where further progress is required, including, among others, better diagnostic modalities for the mild phenotype and for some of the rare forms of disease, elucidation of epigenetic factors that lead to different phenotypes in patients with identical genotype and expending on treatment options for controlling the adrenal androgen excess.