从2000年到2019年,瑞士的儿科内分泌保健中心中性别发育差异的患病率
Sara Metzger1, Christine Aebi-Ochsner2, Kanetee Busiah3
1Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.
Journal of the Endocrine Society
|July 2, 2025
概括
这项研究估计了瑞士性别发育差异 (DSD) 的人口患病率,发现了性别染色体DSD,46,XY DSD和46,XX DSD的特定率. 这些发现为DSD研究和政策提供了关键数据.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 目前缺乏基于人口的性别发育差异 (DSD) 的可靠流行数据.
- 了解DSD患病率对于准确的资源分配和临床管理至关重要.
研究的目的:
- 估计瑞士儿童和青少年中基于人口的DDS患病率.
- 分析趋势并根据诊断组对DSD患病率进行分类.
主要方法:
- 从2000年到2019年,瑞士进行了一项以人口为基础的回顾性研究.
- 从10家瑞士儿童医院和8家私人内分泌诊所收集数据,使用I-DSD注册表和病例报告表.
- 为DSD诊断组计算了患病率,包括性别染色体DSD,46,XY DSD和46,XX DSD.
主要成果:
- 在20年的研究期间,超过561名DDS患者被确定.
- 每年每10万活产儿的患病率为:17个性别染色体DSD,12个46,XY DSD,8个46,XX DSD.
- 46,XX先天性上腺增生大约影响了7500名新生女婴中的1名,与新生儿查数据一致.
结论:
- 该研究提供了瑞士第一个基于人口的DDS流行率估计.
- 建议对46,XX先天性上腺增生和复杂的DSD病例等疾病进行完整的病例确诊.
- 这些发现是DSD政策制定和国际研究工作的重要资源.
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