南非性发育卵睾体疾病谱：单中心经验
The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience.
作者信息
Ganie Yasmeen, Aldous Colleen, Balakrishna Yusentha, Wiersma Rinus
机构信息
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.
出版信息
Horm Res Paediatr. 2017;87(5):307-314. doi: 10.1159/000466693. Epub 2017 Apr 3.
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.
目的
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。
研究设计
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。
结果
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。
结论
OT DSD是南非黑人46,XX DSD患者的重要鉴别诊断。
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