Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development

Abstract

Background: Ovotesticular disorder is characterized by the presenceof testicular and ovarian tissues in the same individual. Single genemutations in SRY, SOX9, DMRT1 and DAX1 can lead to ovotesticulardisorder of sexual development.Case Report: Herein, we report a 3-month-old phenotypically femalebaby in whom differentiated tissues of both Müllerian and Wolffianducts were detected on pathological analysis of laparoscopic biopsymaterial. Chromosomal analysis observed 46,XY, der(9)t(3;9)(p25;p24) with deletion of 9p24.3p23 including the DMRT genecluster and duplication of 3p26.3p24.3 on array comparative genomichybridisation.Conclusion: In support of previous literature, we found thathaploinsufficiency of the DMRT gene cluster leads to ovotesticulardisorder of sexual development. In addition, we emphasize that arraycomparative genomic hybridisation is an important technique in themolecular diagnosis of ovotesticular disorder of sexual.