Sexual Development Disorder in a Dog

A 1-year intact, phenotypic female Doberman Pinscher dog, was evaluated for suspected sexual development disorder. Patient had a history of white mucoid vaginal discharge with no estrous signs or behavior. Clitoral hypertrophy with a palpable os clitoris were noted. Transabodminal ultrasonography revealed a right gonad and tubular structures (possibly uterus). Exploratory laparotomy revealed 2 underdeveloped gonads in caudodorsal abdomen and a markedly underdeveloped right uterine horn. Histopathology confirmed bilateral ovotestes. Karyotyping (number and morphology of chromosomes) and fluorescence in situ hybridization (XX and XY cells) results were normal. Samples were PCR positive for sex-determining region Y (SRY) and X-linked androgen receptor gene. We concluded that the patient was either a mosaic or chimera with normal female 78,XX and normal male 78,XY cells and genetically a mix of male and female. Final diagnosis was sex chromosome (78,XX/XY), SRY-positive, ovotesticular, disorder of sexual development with female phenotype.