Swyer Syndrome: An in-Depth Exploration of Phenotypic and Genotypic Features in 46, XY Disorders of Sex Development

Abstract

Swyer Syndrome, also known as 46, XY Complete Gonadal Dysgenesis, is a rare and intriguing disorder of sexual development characterized by a phenotypic female appearance in individuals possessing a 46,XY karyotype. This enigmatic condition results from a cascade of genetic and hormonal events, which ultimately lead to the absence of functional gonads, presenting a challenging diagnostic and therapeutic conundrum. In this comprehensive review, we delve into the intricate landscape of Swyer syndrome, elucidating its genetic underpinnings, clinical manifestations, diagnostic approaches, and contemporary management strategies. By consolidating current knowledge, this article aims to provide a valuable resource for healthcare professionals, geneticists, and researchers interested in unraveling the complexities of disorders of sex development and the genetic determinants of sexual differentiation.