双侧未下降丸的男孩的生殖腺功能
Angela K Lucas-Herald1, Khalid I Alkanhal1,2, Emma Caney1
1Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow G51 4TF, UK.
Journal of the Endocrine Society
|January 11, 2024
概括
双边未下降丸 (BUDT) 经常与影响性发育的潜在疾病有关. 常规内分泌和遗传评估对于管理这些病例至关重要.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 双边未下降丸 (BUDT) 可以表明性发育或成熟的潜在问题.
- 早期识别和管理对于最佳结果至关重要.
研究的目的:
- 评估患有BUDT的男孩生殖腺功能障碍的流行率.
- 为了确定这些患者内分泌和遗传异常的程度.
主要方法:
- 进行内分泌评估的BUDT男孩的回顾性审查 (2008-2021年).
- 统计分析包括曼-惠特尼U,费舍尔的精确测试,和后勤回归.
- P < .05被认为具有统计学意义.
主要成果:
- 在130名被评估的男孩中,55%的男孩有异常异常,25%的男孩有额外的生殖器特征.
- 在54%的测试男孩中发现了遗传异常,染色体变异最常见.
- 内分泌功能障碍在38%的测试男孩中被发现.
结论:
- 在BUDT的男孩中,遗传发现和生殖腺功能障碍是常见的.
- 综合性内分泌和遗传评估应成为所有BUDT病例的标准护理.
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