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青春期定时对受RAS病症影响的受试者生长进展和最终身高的影响

Federica Tamburrino¹, Laura Mazzanti², Dino Gibertoni³

¹Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

Frontiers in endocrinology

|February 3, 2025

概括

拉索病的延迟青春期显著影响最终的身高,强调需要仔细监测和干预. 早期检测和管理对于改善这些遗传条件下的生长结果至关重要.

科学领域:

遗传学是一个遗传学.
内分泌学在内分泌学.
儿科儿科儿科

背景情况:

拉索病是一种影响RAS/MAPK通路的遗传性疾病,导致包括生长问题在内的多种症状.
在Noonan综合征中,青春期的发展经常被延迟,这是一个常见的RAS病,影响最终的身材.
青春期时间对RAS病的生长和最终身高的确切影响需要进一步研究.

研究的目的:

为了调查RASopathies患者青春期发作的时间.
评估青春期时间对生长和最终身高的影响.
在这个群体中确定影响青春期进展和最终身高的因素.

主要方法:

对103名分子确诊RAS病症患者进行了回顾性纵向研究.
对40名完成青春期的患者的亚组进行了人体测量,荷尔蒙和放射学数据的分析.
延迟青春期开始患者与正常青春期开始患者之间最终身高的比较.

主要成果:

晚期青春期发生在27.8%的患者中,女性更频繁.
与正常发育患者相比,晚期青春期开始的患者的最终身高明显较低 (p < 0.01).
与未接受治疗的患者相比,生长激素治疗对最终身高没有显著差异.

结论:

迟到的青春期开始会对RAS病的最终身高产生不利影响,往往导致不充分的追赶成长.
虽然大多数患者经历自发性青春期,但对生长和青春期进展的警监测至关重要.
优化治疗策略对于改善RASopathies患者的最终身高结果至关重要.

关键词:

马赞蒂综合征是马赞蒂综合征的一种症状.诺南综合征是什么意思拉索病症 (RASopathies) 是一种拉索病.增长激素增长激素的使用方法青春期的青春期,就是青春期.

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