甲状腺功能与遗传亚型的关系以及在普拉德-威利综合征中使用生长激素的治疗
Tiffany Schmok1,2, Abhilasha Surampalli1, Manaswitha Khare1,3
1Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
American journal of medical genetics. Part A
|June 5, 2024
概括
普拉德-威利综合征 (PWS) 患者的甲状腺异常发生率为7.6%. 增长激素 (GH) 治疗与甲状腺功能的改善有关,这表明对PWS患者进行定期查和早期GH干预.
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,其特点是肥胖,智力障碍和荷尔蒙缺乏,包括生长激素 (GH) 缺乏.
- 脑下垂体轴功能障碍在PWS中很常见,可能会影响甲状腺功能.
- 有限的文献存在于甲状腺异常在不同的遗传亚型的PWS和GH治疗的影响.
研究的目的:
- 确定和比较甲状腺异常在普拉德-威利综合征常见遗传亚型之间的发生率.
- 调查生长激素 (GH) 治疗对PWS患者甲状腺特征的影响.
主要方法:
- 一组52名经遗传确认的PWS受试者接受了甲状腺功能的评估,测量甲状腺激素刺激激素 (TSH) 和自由甲状腺素 (fT4) 水平.
- 被试被按遗传亚型 (染色体15q11-q13缺失与母性单亲异构) 和GH治疗状态 (治疗与未治疗) 分类.
- 统计分析包括单向ANOVA和学生t测试来比较组,显著性设置为p < 0.05.
主要成果:
- 甲状腺总体异常发病率为7.6% (4/52),包括两个甲状腺功能低下的病例和两个亚临床甲状腺功能低下的病例.
- 在删除和UPD遗传亚型之间,没有发现甲状腺功能的显著差异.
- 与未经治疗组相比,接受GH治疗的个体表现出明显较低的TSH水平 (p=0.046) 和较高的自由T4水平 (p=0.05),表明甲状腺功能得到改善.
结论:
- 甲状腺异常发生在PWS患者中显著的百分比,无论遗传亚型如何.
- 在PWS患者中,生长激素治疗似乎对甲状腺功能产生了积极的影响.
- 对于患有普拉德-威利综合征的人来说,建议定期进行甲状腺查和早期启动GH治疗,以潜在地减轻甲状腺缺乏症.
关键词:
普拉德·威利综合征 (Prader-Willi综合征) 是一种删除删除删除删除删除增长激素增长激素的使用方法甲状腺功能低下症 甲状腺功能低下症母亲单亲双胞胎异构.甲状腺素刺激激素激素激素激素刺激激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素激素相关概念视频
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