ISSN : 2146-3123
E-ISSN : 2146-3131

Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development
Metin Eser1, Akif Ayaz2
1Clinic of Medical Genetics, Aydın State Hospital, Aydın, Turkey
2Clinic of Medical Genetics, University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey
DOI : 10.4274/balkanmedj.2017.0378
Ovotesticular disorder is an extremely rare cause of disorder of sexual development, once known as true hermaphroditism. Herein, we report a 3-month-old phenotypically female baby in whom differentiated tissues of both Müllerian and Wolffian ducts were detected on pathological analysis of laparoscopic biopsy material. Chromosomal analysis observed 46,XY, der(9)t(3;9)(p25;p24) with deletion of 9p24.3p23 including the DMRT gene cluster and duplication of 3p26.3p24.3 on array comparative genomic hybridisation.

Abstract

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

Keywords : Genetic hybridization, haploinsufficiency, ovotesticular disorder of sex development
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