逆转先天性高阴性高阴性特异性低阴性主义的逆转
Andrew A Dwyer1,2, Maria Stamou2,3
1Boston College William F. Connell School of Nursing, Chestnut Hill, MA 02467.
The Journal of clinical endocrinology and metabolism
|November 8, 2025
概括
在男性中,先天性性性性 (CHH) 可以逆转,导致持续的生殖轴激活. 这种逆转提供了对生殖调节的新见解,并为定制的CHH管理策略提供了信息.
科学领域:
- 生殖内分泌学 生殖内分泌学
- 人类遗传学 人类遗传学
- 发育生物学 发展生物学
背景情况:
- 遗传性先天性疾病通常是终身的疾病.
- 遗传性性性性性性 (CHH) 是一个例外,在男性中有可能逆转.
- 大约10%的男性患有CHH经历逆转与持续的下丘脑-垂体-淋巴结核 (HPG) 轴激活后停止激素治疗.
研究的目的:
- 系统地审查和综合关于男性CHH逆转的发现.
- 根据当前的证据,为CHH的临床管理策略提供信息.
- 为了简要概述CHH逆转现象.
主要方法:
- 结构化,系统的文献搜索关于到2025年男性中CHH逆转的文章.
- 迷你审查格式,简要概述和综合识别的发现.
- 分析确定的病例,包括严重的GnRH缺乏症和CHH基因中的病原变异.
主要成果:
- 31篇文章报告了男性的CHH逆转,包括严重的GnRH缺乏和致病变体.
- 逆转与延迟的青春期不同;嗅觉表型 (厌氧) 不能预测HPG轴的恢复.
- 在达到正常水平后发生逆转;GNRHR变体有利于逆转,ANOS1变体几乎排除了它.
结论:
- CHH逆转扩大了对人类生殖调节的理解,尽管机制仍然不清楚.
- 临床症状和遗传检测可以识别男性从CHH逆转监测中受益.
- 从CHH逆转的洞察力已经告知了量身定制的CHH管理方法的发展.
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