Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

Abstract Background 11β-hydroxylase deficiency (11OHD) is extremely rare, and reports of non-classical 11OHD are even rarer. Non-classical 11OHD usually presents as premature adrenarche, hyperandrogenism, menstrual disorders, and hypertension. Because the symptoms of non-classical 11OHD are mild, de...

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Bibliographic Details
Main Authors: Dongdong Wang, Jiahui Wang, Tong Tong, Qing Yang
Format: Article
Language:English
Published: BMC 2018-09-01
Series:Journal of Ovarian Research
Subjects:
11β-hydroxylase deficiency
Genetic testing
Hypertension
Protein function prediction
Online Access:http://link.springer.com/article/10.1186/s13048-018-0450-8

Internet

http://link.springer.com/article/10.1186/s13048-018-0450-8

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