Management considerations for the adult with congenital adrenal hyperplasia
Management considerations for the adult with congenital adrenal hyperplasia
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DOI：
10.1016/j.mce.2015.01.039
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发表时间：
2015-06-15
影响因子：
4.1
通讯作者：
Auchus, Richard J.
中科院分区：
文献类型：
--
作者：
Auchus, Richard J.
先天性肾上腺增生症（CAH）是一组皮质醇生物合成的遗传缺陷，最常见的是类固醇21-羟化酶缺乏症（21 OHD）。随着20世纪60年代可的松治疗和90年代新生儿筛查的出现，大多数21 OHD儿童现在已经成年。成人21 OHD患者的需求和关注点与儿童重叠，但随着这些患者成年，重点和方法发生了变化。队列研究表明，患有21 OHD的成年人经历了重大的健康问题，如不育、肥胖、身材矮小、肿瘤和骨质流失，以及生活质量下降。尽管如此，健康状况和疾病严重程度的范围很广，但造成这些差异的原因只有部分是已知的。本文将总结目前的知识状态和建议的方法来管理经典的成人21 OHD，加上一些主要的考虑与非经典的成人21 OHD。(C)2015爱思唯尔爱尔兰有限公司版权所有。
The congenital adrenal hyperplasias (CAH) are a group of genetic defects in cortisol biosynthesis, most commonly steroid 21-hydroxylase deficiency (21OHD). With the advent of cortisone therapy in the 1960s and newborn screening in the 1990s, most children with 21OHD now reach adulthood. The needs and concerns of adults with 21OHD overlap with those of children, but the focus and approach shift as these patients reach adulthood. Cohort studies suggest that adults with 21OHD experience significant health concerns such as infertility, obesity, short stature, neoplasia, and bone loss, as well as reduced quality of life. Nevertheless, the spectrum of health status and disease severity is broad, but only some of the reasons for these disparities are known. This review will summarize the current state of knowledge and suggested approaches to management adults with classic 21OHD, plus a few major considerations for adults with nonclassic 21OHD. (C) 2015 Elsevier Ireland Ltd. All rights reserved.