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Article

17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Jul 2010

Li Hua, Qiao Jie, Guo Hongyan

Abstract excerpt

BACKGROUND: 17alpha-Hydroxylase deficiency (17OHD) is a rare disease of congenital adrenal hyperplasia. It is characterised by hypertension, hypokalaemia, primary amenorrhoea. Deficiency of P450c17 enzyme is caused by mutation of the CYP17 gene. CASE: A 16-year-old female with genotypic 46, XY suffered from 17OHD. She presented with primary amenorrhoea, lack of secondary sexual characteristics, and hypertension....

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Identifiers

PMID: 20170344
DOI: 10.3109/09513591003632068

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Source receipt: pubmed, retrieved 7 Sept 2026.

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