A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency

17α-hydroxylase/17,20-lyase deficiency is a rare disease caused by mutation of the CYP17A1 gene, resulting in hypertension, hypokalemia, alkalosis, female hypogonadism, and male pseudohermaphroditism. Here we report a case of a 15-year-old girl with 17α-hydroxylase/17,20-lyase deficiency, and analyz...

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Veröffentlicht in:	Discovery medicine 2017-11, Vol.24 (133), p.175-182
Hauptverfasser:	Sun, Mengli, Yan, Xiaoqing, Feng, Anyun, Wu, Xuemei, Ye, Enling, Wu, Huiying, Lu, Xuemian, Yang, Hong
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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