Article
Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing.
Orphanet journal of rare diseases - 27 Jun 2026
Błaszczyk Ewa, Więcek Małgorzata, Jazela-Stanek Aleksandra, Kudela Grzegorz, Koszutski Tomasz, Kowalczyk Karolina, Sikora Jagoda, Wiernik Agnieszka, Żarczyńska Małgorzata, Kempińska Wiktoria, Bielska-Brodziak Agnieszka, Gawlik-Starzyk Aneta
Abstract excerpt
INTRODUCTION: Differences in sex development (DSD) with 46,XY karyotype are a group of rare congenital conditions affecting the structure and function of the urogenital system. Published data indicate, that despite the increasingly widespread use of genetic testing, the etiology remains unclear in approximately half of cases. AIM OF THE STUDY: To clarify the molecular causes of 46,XY DSD by performing whole-exome...
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