The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience

Objective: To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD). Study Design: This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD. Results: All subjects were South African; 97% (n = 62) were African and 92% (n = 59) were of Zulu ethnicity. The most common karyotype was 46, XX (88%; n = 56), followed by 46, XY (8%), 46, XY/45, X (3%), and 46, XX/46, XY (1%). The median age at presentation was 7 months (0.5 months to 5.1 years). Sixty-one of the subjects (95%) presented with DSD. The ovotestis was the most frequent gonad (56%), followed by the ovary (23%) and the testis (16%). Testes were more commonly located on the right and ovaries on the left (p < 0.0001). The male gender was the predominant sex of rearing in two-thirds of the subjects. Gender dysphoria was noted in 8 subjects (11%) at a median of 6.4 (4.3-9.3) years. Long-term follow-up (n = 14) revealed spontaneous puberty in 5 subjects, gender dysphoria in 2 subjects, and neuropsychiatric disorders in 4 subjects. Conclusion: OT DSD is an important differential diagnosis in Black South Africans with 46, XX DSD. (C) 2017 S. Karger AG, Basel