听力损失在伪低甲状腺症的流行率
Cassandre Djian1, Jugurtha Berkenou2,3, Anya Rothenbuhler2,3
1AP-HP, Department of Otolaryngology, Hôpital Lariboisière, Université Paris Cité, Paris, France. cassandre.djian@aphp.fr.
Orphanet journal of rare diseases
|September 12, 2024
概括
听力损失影响了39%的患有伪副类甲状腺症 (PHP) /非活化副甲状腺激素/副甲状腺激素相关蛋白信号障碍 (iPPSD) 的患者. 矮身和子宫外骨化是PHP/iPPSD患者这种听力损失的关键预测因素.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- 伪低甲状腺症 (PHP) 和非活性甲状腺激素/甲状腺激素相关的蛋白质信号障碍 (iPPSD) 的特征是PTH耐药性,胸甲状腺症和矮身.
- 听力损失是PHP/iPPSD中研究不足的症状,之前的研究产生了相互矛盾的结果.
研究的目的:
- 评估诊断为PHP/iPPSD的患者中听力损失的发生率.
- 确定这种患者群体中听力损失的潜在预测因素.
主要方法:
- 一项涉及PHP/iPPSD患者的回顾性队列研究,收集了临床特征和遗传突变的数据.
- 进行了听力检查,包括音调和声音听力测量,听力损失被定义为纯音调平均值 (PTA) ≥20dB.
主要成果:
- 在研究的44名患者中,39%的患者确诊有听力障碍.
- 矮身 (p=0.009) 和宫外骨化 (p=0.03) 是听力损失的重要预测因素.
- 在听力损失和性别,BMI,PTH抵抗,突变类别或支直觉之间没有发现显著的关联.
结论:
- 这项研究证实,PHP/iPPSD患者的听力损失频率很高.
- 建议对所有PHP/iPPSD患者进行审计调查和定期后续检查,特别是那些身高矮或宫外骨化.
相关概念视频
The Parathyroid Glands
1.9K
The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
1.9K
Hormones and Bone Tissue
2.6K
The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
2.6K
Respiratory System Abnormal Finding II: Palpation and Auscultation
331
In assessing respiratory abnormalities, palpation and auscultation are critical tools for detecting and interpreting various pathophysiological changes. These techniques provide insight into underlying disorders by evaluating tactile sensations and sounds produced by the respiratory system.
Palpation Findings
During a respiratory assessment, palpation can reveal several vital abnormalities:
Palpation Findings
During a respiratory assessment, palpation can reveal several vital abnormalities:
331


