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hrp0095p1-174 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A rare case of male sex reversal syndrome (46,XX) with negative SRY gene: a disorder of sexual differentiation (DSD)

Požgaj Šepec Marija , La Grasta Sabolić Lavinia , Karnaš Helena , Stipoljev Feodora , Stipančić Gordana

Introduction: The 46,XX testicular disorder of sex development (DSD) is a rare genetic condition and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients, but approximately 20% of patients are SRY-negative. We report a 1.3 -year old SRY/negative 46,XX boy with complete sex reversal caused by SOX3 duplication.Case report:...

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A rare case of male sex reversal syndrome (46,XX) with negative SRY gene: a disorder of sexual differentiation (DSD)

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