Work

Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report

Year: 2022

Type: article

Abstract: BACKGROUND: 17α-Hydroxylase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia, characterized by hypertension, hypokalemia, and gonadal dysplasia. However, due to the lack of a comprehensive understanding of this disease, it is prone to misdiagnosis and missed diagnosis, and there is no complete cure. CASE SUMMARY: ) test was performed to confirm the diagnosis. CONCLUSION: gene test are helpful for early diagnosis.

Source: World Journal of Clinical Cases

DOI: 10.12998/wjcc.v10.i11.3553

Authors: Yu Gong, Fang Qin, Wen-Jia Li, Le-Yu Li, Ping He, Xing-Jian Zhou

Institutions: Hubei University of Medicine, Xiang Yang No.1 People's Hospital

Language: English

Topic: Sexual Differentiation and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4226184530

FWCI: 0.245

Cites: 22

Cited by: 3

Related to: 10