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非经典型先天性肾上腺皮质增生症与杂合子携带者

Nonclassic congenital adrenal hyperplasia and the heterozygote carrier.

作者信息

Ahmadi Sara, Alvi Saadia, Urban Randall J

机构信息

a Department of Internal Medicine, Division of Endocrinology and Metabolism, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.

b Department of Internal Medicine, Division of Endocrinology and Metabolism, University of Texas Medical Branch, 301 University Blvd, Galveston, TX 77555, USA.

出版信息

Expert Rev Endocrinol Metab. 2013 May;8(3):239-246. doi: 10.1586/eem.13.18.

DOI:10.1586/eem.13.18
PMID:30780815
Abstract

This article discusses the difficulty of differentiating three causes of adult androgen excess including nonclassic congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, polycystic ovarian syndrome and heterozygote carrier of CYP21 mutations based on clinical findings. It also reviews the screening modalities that discriminate patients with nonclassic congenital adrenal hyperplasia and the heterozygote carrier of CYP21 mutations from the normal population. In addition, the current management of hyperandrogenism and ovulatory dysfunction in these patients is described.

摘要

本文讨论了基于临床发现来区分成人雄激素过多的三种原因的困难,这三种原因包括由21-羟化酶缺乏引起的非经典型先天性肾上腺皮质增生、多囊卵巢综合征以及CYP21突变的杂合子携带者。它还综述了将非经典型先天性肾上腺皮质增生患者和CYP21突变的杂合子携带者与正常人群区分开来的筛查方式。此外,还描述了这些患者目前对高雄激素血症和排卵功能障碍的治疗方法。

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Nonclassic congenital adrenal hyperplasia and the heterozygote carrier.非经典型先天性肾上腺皮质增生症与杂合子携带者
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2
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引用本文的文献

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CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS.CYP21A2基因内含子2的遗传变异可能与多囊卵巢综合征女性的临床特征相关。
Biomedicines. 2024 Jul 9;12(7):1528. doi: 10.3390/biomedicines12071528.
2
Differences in hormonal levels between heterozygous pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.杂合致病性变异携带者、非携带者和非经典先天性增生女性之间的激素水平差异。
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