A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome

Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnormal gonadal development. The presence or absence of a 45,X lineage is important for prognosis and management.

Source: Journal of Pediatric and Adolescent Gynecology - June 17, 2020 Category: OBGYN Authors: Momal T. Chand, Stefanie Turner, Leigh Ann Solomon, Allison Jay, Raja Rabah, Vinod K. Misra Source Type: research