Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.

ABSTRACT:

Background

The clinical profile and genetics of individuals with Disorders/Differences of Sex Development (DSD) has not been reported in Ukraine.

Materials and methods

We established the Ukrainian DSD Register and identified 682 DSD patients. This cohort includes, 357 patients (52.3% [303 patients with Turner syndrome)] with sex chromosome DSD, 119 (17.5%) with 46,XY DSD and 206 (30.2%) with 46,XX DSD. Patients with sex chromosome DSD and congenital adrenal hyperplasia (CAH, n=185) were excluded from further studies. Fluorescence in situ hybridization (FISH) was performed for eight 46,XX boys. 79 patients underwent Whole Exome Sequencing (WES).

Results

The majority of patients with 46,XY and 46,XX DSD (n=140), were raised as female (56.3% and 61.9% respectively

SUBMITTER: Globa E 

PROVIDER: S-EPMC9012099 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature