Ganie Yasmeen, Aldous Colleen, Balakrishna Yusentha, Wiersma Rinus
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.
Horm Res Paediatr. 2017;87(5):307-314. doi: 10.1159/000466693. Epub 2017 Apr 3.
To describe the clinical characteristics, biochemistry, histopathology, and long-term outcomes in subjects with ovotesticular (OT) disorder of sex development (DSD).
This is a retrospective subset analysis of 64 cases of histologically confirmed OT DSD.
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.
OT DSD is an important differential diagnosis in Black South Africans with 46,XX DSD.
描述性发育障碍（DSD）中卵睾体（OT）患者的临床特征、生物化学、组织病理学及长期预后情况。
这是一项对64例经组织学确诊的OT DSD病例的回顾性亚组分析。
所有受试者均为南非人；97%（n = 62）为非洲人，92%（n = 59）为祖鲁族。最常见的核型是46,XX（88%；n = 56），其次是46,XY（8%）、46,XY/45,X（3%）和46,XX/46,XY（1%）。就诊时的中位年龄为7个月（0.5个月至5.1岁）。61名受试者（95%）表现为DSD。卵睾体是最常见的性腺（56%），其次是卵巢（23%）和睾丸（16%）。睾丸更常见于右侧，卵巢更常见于左侧（p < 0.0001）。三分之二的受试者以男性性别抚养为主。8名受试者（11%）在中位年龄6.4（4.3 - 9.3）岁时出现性别焦虑。长期随访（n = 14）显示，5名受试者出现自然青春期，2名受试者出现性别焦虑，4名受试者出现神经精神障碍。
OT DSD是南非黑人46,XX DSD患者的重要鉴别诊断。
