普拉德-威利综合征的变异性青春期发育:青春期的早期和缓慢的进展与正常年龄在阴腺痛
Aneta Kodytková1, Petra Dušátková1, Shenali Anne Amaratunga1
1Department of Pediatrics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czechia.
Frontiers in endocrinology
|April 30, 2025
概括
患有普拉德-威利综合征 (PWS) 的儿童经历了早期的青春期,但正常的阴道痛,青春期进展较慢. 在发生性腺痛时观察到晚期骨龄,不论基因亚型或MKRN3基因状态如何.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 普拉德-威利综合征 (PWS) 是一种遗传性疾病,通常是由15q11-q13区域的父性微切除,母性单亲性异构或转位引起的.
- 位于15q11-q13区域的MKRN3基因在调节青春期开始方面发挥着至关重要的作用.
研究的目的:
- 将PWS患者的青春期开始和进展与规范性数据进行比较.
- 调查青春期模式与PWS中的MKRN3基因状态之间的相关性.
主要方法:
- 对37名PWS患者 (18名女性) 的回顾性分析,这些患者已经进入青春期和/或阴道痛.
- 进行了PWS和MKRN3基因测序的遗传亚型.
- 评估了青春期的里程碑,进展率和性腺疼痛时的骨年龄 (BA).
主要成果:
- 在女孩 (7.4岁) 和男孩 (9.2岁) 均观察到早期青春期,不论PWS遗传亚型或MKRN3状态.
- 从早期到晚期的青春期进展时间延长 (女孩:3.7年,男孩:2.9年).
- 淋巴痛的时间是正常的,但淋巴痛时的骨年龄提前了0.6年 (p<0.001).
结论:
- PWS患者表现出早期的青春期和正常的性腺疼痛时间,青春期进展延迟.
- 发生性腺痛时的骨质晚年是PWS的一个重要发现.
- 无论是PWS遗传亚型还是MKRN3基因状态都与观察到的青春期模式无关.
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