Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissues in the gonads of the same individual. Patients usually present at birth with ambiguous genitalia, and the majority showed a 46,XX karyotype, with absence of the SRY sequence. In this study we reported on nine patients with OT-DSD, who were referred to the Human Genetics and endocrinology Clinics, division of Human Genetics and Genome Research, National Research Centre (NRC), Cairo, Egypt. The patients were selected from 540 DSD patients studied over a period of 5 years (2013-2018) Eight patients presented with ambiguous genitalia and one male patient presented with gynecomastia The patients constituted 6.4% of the patients presenting with ambiguous genitalia The patients underwent conventional cytogenetic and FISH analysis, ultrasonographic and laparoscopic assessment with gonadal histopathological examination. FISH on gonadal tissue biopsies were also performed in three patients. Five patients had 46,XX karyotype, one patient had a chimeric 46,XX/46,XY karyotype and three patients had unusual structural sex chromosomal abnormalities. This study extends the cytogenetic spectrum of OT-DSD patients and indicates the necessity of comprehensive studies for the accurate diagnosis of DSD patients. Reaching a definitive diagnosis is important for proper sex assignment and for medical, surgical and psychological intervention.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology