Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep327 | Clinical case reports - Thyroid/Others | ECE2016

A rare case of infertility – SRY positive, 46,XX testicular disorder of sexual differentiation

Bogdanet Delia , Griffin Thomas , Bell Marcia

Introduction: The testicular disorder of sexual differentiation (DSD) is a rare clinical condition with a reported incidence of 1:20 000 newborn males. It is characterised by a male phenotype with 46,XX karyotype. There are three clinical phenotypes: normal male phenotype, males with genital ambiguities and males who are true hermaphrodites. SRY positive 46,XX testicular DSD results from the translocation of a Y chromosome segment containing the SRY gene during spermatogenesis...