title: Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.
abstract: OBJECTIVE
  Ovotesticular disorder of sexual development (DSD) is an unusual form of DSD, characterized by the coexistence of testicular and ovarian tissue in the same individual. 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.
  
  
  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 ∼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.
authors.affiliation: Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Vesaliusweg 12-14, D-48149 Münster, Germany.
authors.forename: Susanne
authors.initials: S
authors.lastname: Ledig
authors.forename: Olaf
authors.initials: O
authors.lastname: Hiort
authors.forename: Lutz
authors.initials: L
authors.lastname: Wünsch
authors.forename: Peter
authors.initials: P
authors.lastname: Wieacker
mesh_terms: D005091:Exons; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics*; D057895:Haploinsufficiency / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D050090:Ovotesticular Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C110547:DMRT1 protein; D014157:Transcription Factors