The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.Mirian Yumie Nishi, Elaine Maria Frade Costa, Suely Beirão Oliveira, Berenice Bilharinho de Mendonça, Sorahia DomeniceHormone research in paediatrics2011BACKGROUND The potential involvement of SRY in abnormal gonadal development in 45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner… (More)