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关于中心早期青春期的综合研究:对90名患者的分子和临床分析

Hiromune Narusawa^1,2, Tomoe Ogawa¹, Hideaki Yagasaki²

¹Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.

The Journal of clinical endocrinology and metabolism

|September 26, 2024

概括

基因检测确定了12.2%的中央早熟青春期 (CPP) 病例的原因. 在患有特定家族病史或出生小于妊娠年龄的患者中,考虑测试普尔综合征 (TS14) 和MKRN3缺陷.

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.
生殖医学生殖医学

背景情况:

中部早熟性青春期 (CPP) 可能是MKRN3,DLK1,KISS1,KISS1R等基因缺陷以及像Temple综合征 (TS14) 等疾病的结果.
最近的研究表明,MECP2中的致病变体也可能导致CPP.

研究的目的:

调查遗传和表观遗传异常对CPP的贡献.
分析与CPP不同病因相关的临床和荷尔蒙特征.

主要方法:

在90名CPP患者中对MKRN3,DLK1,MECP2,KISS1和KISS1R进行向测序.
对像TS14这样的印记障碍进行甲基化分析.
在特定患者组和对照组中测量血清DLK1和MKRN3水平.

主要成果:

确定了8名TS14患者 (表皮移除,UPD14,微删除) 和3名MKRN3缺陷患者 (PV,5'-UTR删除,微删除).
在MECP2,KISS1或KISS1R中没有发现致病变体.
TS14患者的中位体高度较低,出生时的妊娠年龄 (SGA) 较小的发病率更高.

结论:

在12.2%的评估CPP患者中,发现了遗传和表观遗传原因.
建议考虑在CPP患者中进行TS14和MKRN3缺陷的基因检测,这些患者出生于SGA或有父亲早期青春期的家族病史.

关键词:

在MECP2中,MECP2是MECP2.这是一个MKRN3MKRN3MKRN3MKRN 中央早期青春期早期青春期印记的基因印记的基因印记障碍打印障碍打印障碍打印障碍寺综合征是一个神综合征.

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