Ovotesticular Disorder of Sex Development: A Single-Center Experience

Abstract

Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study was to describe the clinical, biochemical, imaging, cytogenetic, surgical, and histopathologic findings and outcomes of patients with OT DSD from Western India. The records of patients referred to our center for disorders of sex development between 2005 and 2013 were reviewed, and 7 patients were found to have histologically proven OT DSD. The median age at presentation was 8 years (range, 2 months to 25 years). Clinical presentation varied from genital ambiguity and inguinal swelling at birth to gynecomastia and cyclical hematuria after puberty. Karyotype was 46, XX in 6 patients and 46, XY in 1 patient. All patients underwent pelvic ultrasonography, laparoscopy, and surgery for removal of gonads not congruous with the chosen sex of rearing. Gender assignment for all the patients was done by the parents at birth, which was mainly influenced by the external genitalia and sociocultural influences, with 5 out of the 7 patients being reared as males. There was no evidence of gonadal tumors in our study. OT DSD should be considered as one of the differential diagnoses in cases of ambiguous genitalia with nonpalpable or asymmetrical gonads, pubertal gynecomastia, and cyclical hematuria, irrespective of the karyotype or internal genitalia.