Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
Nathalia Lisboa GomesRafael Loch BastistaMirian Y NishiAntônio Marcondes LerárioThatiana E SilvaAmanda de Moraes NarcizoAnna Flávia Figueredo BenedettiMariana Ferreira de Assis FunariJosé Antônio Faria JuniorDaniela Rodrigues MoraesLia Mesquita Lousada QuintãoLuciana Ribeiro MontenegroMaria Teresa Martins FerrariAlexander A JorgeIvo J P ArnholdElaine Maria Frade CostaSorahia DomeniceBerenice Bilharinho de MendoncaPublished in: The Journal of clinical endocrinology and metabolism (2022)
The combination of clinical/biochemical with genetic approaches significantly improved the diagnosis of 46,XY DSD. MPS potentially decreases the complexity of the diagnostic workup as a first-line approach for diagnosing 46,XY DSD.