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Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing

11 Apr 2025

Abstract excerpt

Background More than 60% of cases of 46,XY gonadal dysgenesis (GD), a condition classified as a disorder of sex development (DSD), remain unexplained, which is due to high genetic and clinical heterogeneity. Whole-exome sequencing (WES) is an efficient primary genetic diagnostic method; specifically, the use of WES in patients with 46,XY GD to explore the underlying genetic variants of the disorder may help us...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 40290305
DOI: 10.3389/fendo.2025.1560698

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