[特纳综合征女孩的临床特征]
Edna Catherine Guzmán-Arias1, Diego Alejandro Grajales-Restrepo2, Nora Alejandra Zuluaga-Espinosa1
1Departamento de Pediatría y Puericultura, Universidad de Antioquia, Medellín, Colombia.
Andes pediatrica : revista Chilena de pediatria
|November 17, 2023
概括
特纳综合征是一种影响女性的遗传疾病,通常表现为矮身和众多并发症. 由于各种症状,延迟诊断很常见,这突出了提高临床意识的必要性.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 特纳综合征是一种遗传性疾病,其特点是女性部分或完全缺少X染色体.
- 它影响多个器官系统,导致广泛的临床表现和潜在的健康并发症.
研究的目的:
- 描述诊断出特纳综合征的患者的临床,实验室和基因型特征.
- 为了确定常见的并发病症,并评估年轻患者队列的诊断年龄.
主要方法:
- 一项回顾性研究包括97名18岁以下的女性患者,这些患者患有特纳综合征,并通过型证实.
- 收集的数据包括社会人口统计,营养,表型和实验室发现.
- 使用SPSS版本20进行了描述性统计分析.
主要成果:
- 矮身是主要的临床特征 (90%).
- 观察到心血管 (35%), (26%),听力 (33%) 和神经精神疾病 (44%) 的高频率.
- 甲状腺功能低下 (22%) 和脂质失调 (62%) 是常见的内分泌和代谢问题. 45,X型是最常见的 (51%).
结论:
- 患有特纳综合征的患者表现出显著的矮身和多个系统的高并发症负担.
- 可变的临床表现有助于延迟诊断,强调需要提高临床怀疑.
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