A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review

A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review

Aim: 17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Partial 17-OHD is even rarer than complete 17-OHD and...

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Bibliographic Details
Main Authors: Heye Chen, Yingting Chen, Hongxian Mao, Huaying Huang, Xueyong Lou
Format: Article
Language:English
Published: Taylor & Francis Group 2023-12-01
Series:Blood Pressure
Subjects:
hypertension
cyp17a1
17 α-hydroxylase/17,20-lyase deficiency
novel mutations
congenital adrenal hyperplasia
Online Access:http://dx.doi.org/10.1080/08037051.2023.2195008

Internet

http://dx.doi.org/10.1080/08037051.2023.2195008

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