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

Abstract

<b><i>Objective:</i></b> To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD). <b><i>Study Design:</i></b> This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD. <b><i>Results:</i></b> All subjects were South African; 97% (<i>n</i> = 62) were African and 92% (<i>n</i> = 59) were of Zulu ethnicity. The most common karyotype was 46,XX (88%; <i>n</i> = 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 (<i>p</i> &#x3c; 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 (<i>n</i> = 14) revealed spontaneous puberty in 5 subjects, gender dysphoria in 2 subjects, and neuropsychiatric disorders in 4 subjects. <b><i>Conclusion:</i></b> OT DSD is an important differential diagnosis in Black South Africans with 46,XX DSD.