AUTHOR=Ferrari Maria Tereza Martins , Silva Elinaelma Suelane do Nascimento , Nishi Mirian Yumie , Batista Rafael Loch , Mendonca Berenice Bilharinho , Domenice Sorahia TITLE=Testicular differentiation in 46,XX DSD: an overview of genetic causes JOURNAL=Frontiers in Endocrinology VOLUME=15 YEAR=2024 URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1385901 DOI=10.3389/fendo.2024.1385901 ISSN=1664-2392 ABSTRACT=
In mammals, the development of male or female gonads from fetal bipotential gonads depends on intricate genetic networks. Changes in dosage or temporal expression of sex-determining genes can lead to differences of gonadal development. Two rare conditions are associated with disruptions in ovarian determination, including 46,XX testicular differences in sex development (DSD), in which the 46,XX gonads differentiate into testes, and 46,XX ovotesticular DSD, characterized by the coexistence of ovarian and testicular tissue in the same individual. Several mechanisms have been identified that may contribute to the development of testicular tissue in XX gonads. This includes translocation of