Related Experiment Video
Updated: Jun 16, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis
Hua Li1, Jie Qiao, Hongyan Guo
1Department of Obstetrics and Gynecology, Third Hospital, Peking University, Beijing, China.
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. Laboratory tests showed hypokalaemia, low levels of androgens (testosterone and dehydroepiandrosterone), corticosteroid, and high levels of adrenocorticotropic hormone and progesterone. A P409R mutation was found in exon7 of CYP17 gene, revealing homozygosis and confirming diagnosis of 17OHD.
Conclusion:
17OHD is a rare disease associated with primary amenorrhoea and hypertension. Identification of mutation in CYP17 gene can help to a better understanding of this enzyme deficiency.
Related Concept Videos
Pedigree Analysis
Huntington Disease l: Introduction
Inborn Errors of Metabolism
Jaundice
Lysosomal Hydrolases

