Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development

OBJECTIVE: . In a subset of patients, ovotesticular DSD is caused by 46,XX/46,XY chimerism or mosaicism. To date, only a few monogenetic causes are known to be associated with XX and XY ovotesticular DSD. DESIGN AND METHODS: Clinical, hormonal, and histopathological data, and results of high-resolution array-comparative genomic hybridization (CGH) were obtained from a female patient with 46,XY ovotesticular DSD with testicular tissue on one side and an ovary harboring germ cells on the other. Results obtained by array-CGH were confirmed by RT-quantitative PCR. RESULTS: We detected a deletion of approximately 35 kb affecting exons 3 and 4 of the DMRT1 gene in a female patient with 46,XY ovotesticular DSD. To the best of our knowledge, this is the smallest deletion affecting DMRT1 presented to this point in time. CONCLUSIONS: We suggest that haploinsufficiency of DMRT1 is sufficient for both XY gonadal dysgenesis and XY ovotesticular DSD. Furthermore, array-CGH is a very useful tool in the molecular diagnosis of DSD. Ledig, Susanne Hiort, Olaf Wunsch, Lutz Wieacker, Peter eng Case Reports Research Support, Non-U.S. Gov't England 2012/05/11 06:00 Eur J Endocrinol. 2012 Jul;167(1):119-24. doi: 10.1530/EJE-12-0136. Epub 2012 May 9.