Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis-Reference-Cited by-同舟云学术

Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis

Published:2018-01-18 Issue:6 Volume:34 Page:540-544
ISSN:0951-3590
Container-title:Gynecological Endocrinology
language:en
Short-container-title:Gynecological Endocrinology

Author:

Zhang Yunqiang¹²,Zhang Xuyin¹²,Wang Yiqun³,Hua Keqin¹²,Ding Jingxin¹²

Affiliation:

1. Department of Gynecology, The Obstetrics and Gynecology Hospital, Shanghai, PR China;

2. Shanghai Key Laboratory of Female Reproductive Endocrine-Related Diseases, The Obstetrics and Gynecology Hospital, Fudan University, Shanghai, PR China;

3. Department of Gynecology, Zhenjiang Maternal and Infant Hospital, Zhenjiang, PR China

Publisher

Informa UK Limited

Subject

Obstetrics and Gynecology,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.tandfonline.com/doi/pdf/10.1080/09513590.2017.1417981

Reference19 articles.

1. 17α-Hydroxylase/17,20-Lyase Deficiency: From Clinical Investigation to Molecular Definition*

2. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

3. 17-hydroxylation deficiency in man.

4. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation

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