Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.

ABSTRACT:

Purpose

46,XY disorders of sex development (46,XY DSD) are characterized by incomplete masculinization of genitalia with reduced androgenization. Accurate clinical management remains challenging, especially based solely on physical examination. Targeted next-generation sequencing (NGS) with known pathogenic genes provides a powerful tool for diagnosis efficiency. This study aims to identify the prevalent genetic variants by targeted NGS technology and investigate the diagnostic rate in a large cohort of 46,XY DSD patients, with most of them presenting atypical phenotypes.

Methods

Two different DSD panels were developed for sequencing purposes, targeting a cohort of 402 patients diagnosed with 46,XY DSD, who were recruited from the Department of Urology at Children's Hospital

SUBMITTER: Chen H 

PROVIDER: S-EPMC11403886 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature