hrp0094p2-418 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

46 XX, SRY negative testicular DSD presenting with VACTERL Syndrome

Suntharesan Jananie , Gunasekara Budhi , Lakmini Chamila , De Silva Uamd , Navoda Atapattu

Introduction: Sex determining region Y (SRY gene) located in chromosome Yp11.3, initiate gonadal differentiation into testes, which subsequently leads to development of Wolffian duct, male external genitalia, and regression of Mullerian duct. Not only SRY, SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10 contribute for gonadal differentiation. Imbalance of expression of above genes in the absence of SRY leads to 46, XX testicular DSD. We describe a case of 46...