A Pedigree With <i>LHX4</i> and <i>SOX3</i> Gene Variants Resulting in Gonadal Dysplasia

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. <i>LHX4</i> (NM_033343.4):c.612G>C (p.Trp204Cys) variant may lead to PSIS.

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Publication Details

Journal
Clinical Case Reports
Published
2025-02-01
DOI
https://doi.org/10.1002/ccr3.70118
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Jianbo Wu, Zhaoyang Ji, Ping Chen, Wenyuan Duan et al.
Clinical Case Reports
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
article

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

Jianbo Wu, Zhaoyang Ji, Ping Chen, Wenyuan Duan, Jialu Luo, Mingzhi Xu, Mengting Dai
article en

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. <i>LHX4</i> (NM_033343.4):c.612G>C (p.Trp204Cys) variant may lead to PSIS.

Clinical Case ReportsVol. 13(2)
Wenzhou Medical University (CN), Zhejiang Cancer Hospital (CN), Zhejiang Shuren University (CN), Annoroad Gene Technology (China) (CN), Zhejiang University (CN)
National Key Research and Development Program of China
Good health and well-being
Openalex Percentile: Top 96%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
DOIOpen Access PDFOpenAlex
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A Pedigree With <i>LHX4</i> and <i>SOX3</i> Gene Variants Resulting in Gonadal Dysplasia — Jianbo Wu, Zhaoyang Ji, et al. · Clinical Case Reports (2025) | TGRS Research Map | TGRS