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Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Jan 2014

Shi Mengte, Chen Xiaojun, Zhou Qi, Shen Feixia

Abstract excerpt

AIMS: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease caused by CYP17 gene mutations. This disease is clinically characterised by hypertension, hypokalaemia, sexual infantilism in females or pseudohermaphroditism in males, and adrenal hyperplasia. This study aims to investigate a rare case of 17OHD accompanied by both cystic ovaries and massive adrenal mass. METHODS: This...

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PMID: 25027547
DOI: 10.3109/09513590.2014.943721

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