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

Haploinsufficiency of 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

Background: Ovotesticular disorder is characterized by the presence of testicular tissue and ovarian tissue in the same individual. Single gen mutations such as SRY, SOX9, DMRT1 and DAX1 can lead to ovotesticular disorder of sexual development.
Case Report: Herein, we reported a 3 month-old phenotypically female detected tissues differentiated both Mullerian duct and Wolffian ducts on pathological analysis of laparoscopic biopsy material. In our case observed 46,XY,der(9)t(3;9)(p25;p24) on chromosomal analysis were detected deletion of 9p24.3p23 including DMRT gene cluster, duplication of 3p26.3p24.3 on array-CGH.
Conclusion: With this findings, we suggest that haploinsufficiency of DMRT gene cluster lead to ovotesticular disorder of sexual development in the light of literature, once again. In addition, with this paper, we emphasized that array-CGH is a important technique in the molecular diagnosis of ovotesticular disorder of sexual development.

Keywords : 46,XY Ovotesticular disorder of sexual development, DMRT, array-CGH

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