墨西哥队列的细胞基因组描述,性别发育的差异
Grecia C Olivera-Bernal1, Marlon De Ita-Ley1,2, Edgar F Ricárdez-Marcial3
1Medical Research Unit in Human Genetics, Instituto Mexicano del Seguro Social (IMSS)/Hospital de Pediatría, Centro Médico Nacional SXXI, Ave. Cuauhtémoc 330, 06720, Mexico City, Mexico.
Molecular cytogenetics
|July 15, 2024
概括
这项研究描述了墨西哥患者性别发育差异 (DSD) 的第一个流行病学和遗传特征. 这个队列中的46,XY DSD类型比以前报告的更为频繁.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 性发育差异 (DSD) 是影响性性格发展的先天性变化.
- 虽然不危及生命,但由于潜在的心理情绪影响,DSD需要谨慎管理.
- DSD的遗传原因是多样化的,从染色体异常到单基因变异.
研究的目的:
- 在墨西哥患者队列中描述DSD的流行病学和遗传特征.
- 提供关于特定区域人口中DSD流行情况的新见解.
- 为墨西哥未来的DSD研究建立一个基准.
主要方法:
- 进行了一项描述性,回顾性横截面研究.
- 分析了2015年至2021年间在墨西哥城的一家儿科医院接受治疗的101名DSD患者的数据.
- 根据芝加哥共识声明和多学科组诊断,患者被分类.
主要成果:
- 54%的患者患有染色体DSD.
- 16%的患者患有46,XX DSD.
- 30%的患者患有46,XY DSD.
结论:
- 染色体DSD的频率与现有文献一致.
- 与以前的研究相比,在这个队列中观察到46,XY DSD的患病率更高.
- 这一发现可能受到患者年龄,研究人口特征或样本大小的影响.
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