title: The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience.
abstract: OBJECTIVE
  To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD).
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  OT DSD is an important differential diagnosis in Black South Africans with 46,XX DSD.
authors.affiliation: Department of Paediatrics and Child Health, Nelson R. Mandela School of Medicine, Faculty of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.|Division of Paediatric Endocrinology, Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, Durban, South Africa.
authors.forename: Yasmeen
authors.initials: Y
authors.lastname: Ganie
authors.affiliation: Department of Internal Medicine, Nelson R. Mandela School of Medicine, Faculty of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.
authors.forename: Colleen
authors.initials: C
authors.lastname: Aldous
authors.affiliation: Biostatistics Unit, South African Medical Research Council, Durban, South Africa.
authors.forename: Yusentha
authors.initials: Y
authors.lastname: Balakrishna
authors.affiliation: Department of Paediatric Surgery, Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, Durban, South Africa.|Department of Paediatric Surgery, Nelson R. Mandela School of Medicine, Faculty of Health Sciences, University of KwaZulu-Natal, Durban, South Africa.
authors.forename: Rinus
authors.initials: R
authors.lastname: Wiersma
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics / Q000473:pathology; D044383:Black People / Q000208:ethnology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D058490:Disorder of Sex Development, 46,XY / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D050090:Ovotesticular Disorders of Sex Development / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics / Q000473:pathology; D013019:South Africa / Q000453:epidemiology / Q000208:ethnology
keywords: Disorders of sex development; Gender assignment; Gender dysphoria; Ovotesticular disorders of sex development