46,XY低病毒化和NR5A1变体:印度单心体验和系统审查
Sandeep Kumar1, Reshma Pandit1, Vijaya Sarathi2
1Department of Endocrinology, Seth G.S. Medical College, KEM Hospital, Parel, Mumbai 400012, Maharashtra, India.
Annales d'endocrinologie
|April 25, 2025
概括
NR5A1变种导致罕见的46,XY性发育障碍 (DSD),通常导致女性到男性的性别变化和生殖腺功能障碍. 这项研究澄清了基因型-表型相关性,并突出了潜在的较低的淋巴腺恶性瘤风险.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 内分泌学 在内分泌学.
- 生殖生物学 生殖生物学
背景情况:
- NR5A1变异是46XY性发育障碍 (DSD) 的罕见但重要的原因.
- 关于基因型-表型相关性的数据有限,特别是在印度.
- 对于临床管理来说,全面了解NR5A1相关的DSD至关重要.
研究的目的:
- 描述 46,XY DSD 和 NR5A1 变异的个体中的临床,生化,组织学和基因型-表型相关性.
- 系统地审查现有文献,并介绍印度研究人员的新数据.
主要方法:
- 对11个具有NR5A1变异的基因证明试验者的回顾性单心审查.
- 系统的文献审查包括这些11个试验和288个额外的案例.
- 对临床表现,生化标志物,组织学发现和遗传变异的分析.
主要成果:
- 十一名印度试验对象表现出表型变异,其中三分之二的试验对象发生了女性到男性的性别变化,其中三分之一的试验对象出现了原发性上腺功能缺陷.
- 对299名试验者的系统性审查显示,青春期的男性化频繁 (43%),双边的阴唇-阴囊性腺 (33.2%),以及缺席的穆勒尔结构 (80.6%).
- 胚胎细胞在微型青春期的个体中存在,但在老年患者中不存在; 塞尔托利细胞功能随着年龄的增长而下降.
结论:
- 具有NR5A1变异的46,XY DSD的特征是Sertoli和Leydig细胞功能和青春期病毒化逐渐下降.
- 部分性腺失调是常见的,与其他DSD来源相比,性腺恶性瘤的风险可能较低.
- 需要进一步的研究来验证这些发现,并完善临床管理策略.
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