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

• Main Authors: Dongdong Wang (Author), Jiahui Wang (Author), Tong Tong (Author), Qing Yang (Author)
• פורמט: ספר
• יצא לאור: BMC, 2018-09-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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...