儿童沃尔夫拉姆综合征1型:生殖腺功能障碍应该是诊断标准的一部分吗?
Giulio Frontino1,2, Raffaella Di Tonno1,3, Marianna Rita Stancampiano1,3
1Department of Pediatrics, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) San Raffaele Hospital, Milan, Italy.
Frontiers in endocrinology
|June 29, 2023
概括
淋巴腺功能障碍在儿科沃尔夫拉姆综合征谱系障碍 (WFS1-SD) 中很常见,比以前认为的更早出现. 早期识别这种特征对于及时管理和改善生活质量至关重要.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 沃尔夫拉姆综合征谱系障碍 (WFS1-SD) 是一种罕见的,严重的自体相衰退性疾病.
- 主要特征包括糖尿病,视力缩,无味糖尿病和聋.
- 阴道功能障碍 (GD) 在成年人中被认可,但被认为是轻微的特征.
研究的目的:
- 在患有WFS1-SD的儿科患者中调查淋巴腺功能.
- 为了确定这一群体中发生性腺功能障碍的流行率和时间.
主要方法:
- 评估了3至16岁的8名儿科患者 (3名男性,5名女性) 的淋巴腺功能.
- 监测性腺激素和性激素水平,以及性腺储备标志物 (抑制素-B,AMH).
- 使用坦纳分期评估青春期进展.
主要成果:
- 在50%的患者 (2/3的男性,2/5的女性) 中诊断出初级性阴性双胞胎症.
- 在一名女性患者中观察到青春期延迟.
- 研究结果表明,GD在儿科WFS1-SD中是一个频繁的,可能被低诊断的特征.
结论:
- 淋巴腺功能障碍可能是WFS1-SD中比以前认识的更频繁和更早发作的特征.
- 将GD纳入诊断标准可以帮助更早的诊断和管理.
- 及时干预GD可以改善患病率和生活质量受影响的儿童.
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