NCT05449080已完成不适用
Disorders of Sex Development (DSD) 46.XY Due to Type 2 5-Α Reductase Deficiency in Three Siblings: Case Report From a Low-Resource Setting
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 3
- 试验地点
- 1
- 主要终点
- Karyotype
研究概览
简要总结
This is a case series of three siblings with DSD 46,XY with relevant discussion
详细描述
This is a case series of three sisters with DSD 46 X,Y. Three sisters, aged nineteen, seventeen, and fifteen years old came with an identical complaint of late menarche. Physical examinations, lab results and karyotypes were performed.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •3 female siblings with identical complaints of no menarche
排除标准
- •patients outside this family.
结局指标
主要结局
Karyotype
时间窗: 1 month after testing
Patient's karyotype
次要结局
未报告次要终点
研究者
研究点 (1)
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