Work

A Pedigree With LHX4 and SOX3 Gene Variants Resulting in Gonadal Dysplasia

Year: 2025

Type: article

Study design: Case Report

Abstract: ABSTRACT Pituitary stalk interruption syndrome is a disease with multiple hormone deficiencies caused by pituitary stalk interruption. Identification of the pathogenic gene variant is helpful for early diagnosis. Early hormone replacement therapy is helpful to improve the prognosis and quality of life of patients. LHX4 (NM_033343.4):c.612G>C (p.Trp204Cys) variant may lead to PSIS.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.70118

Authors: Zhaoyang Ji, Wenyuan Duan, Jianbo Wu, Mengting Dai, Ping Chen, Jialu Luo, Mingzhi Xu

Institutions: Chinese Academy of Sciences, Zhejiang Cancer Hospital, Zhejiang Shuren University, Hangzhou Institute of Medicine, Chinese Academy of Sciences, Wenzhou Medical University

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: gold

Estimated APC paid: $1,820

Funder: National Key Research and Development Program of China

Awards: G4317767458, G5412090072, G8250599871, G8739850702

OpenAlex ID: W4407809354

FWCI: 0.252

Cites: 18

Cited by: 1

Related to: 10