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新的MCT8突变:T3/T4比率的诊断值

Azzeddine Laaraje¹, Abdelilah Radi¹, Soukaina Ait Hmadouch¹

¹Department of Pediatrics, 479569 Mohammed V Military Instruction Hospital, Faculty of Medicine and Pharmacy, Mohammed V University , Rabat, Morocco.

Journal of pediatric endocrinology & metabolism : JPEM

|September 22, 2025

概括

T3 / T4比率是艾伦-赫伦登-达德利综合征 (AHDS) 的关键诊断标志物,这种疾病会导致严重的发育迟缓. 早期T3/T4比率测量有助于在婴儿中诊断AHDS,这些婴儿有不明原因的低血压和发育迟缓.

科学领域:

内分泌学在内分泌学.
遗传学遗传学是一个
儿科神经学儿科神经学

背景情况:

艾伦-赫伦顿-达德利综合征 (AHDS) 是一种罕见的X相关疾病,其特征是严重的全球发育迟缓,智力障碍和神经肌肉损伤.
AHDS是由SLC16A2基因的突变引起的,该基因编码单碳酸盐运输体8 (MCT8),对甲状腺激素运输至关重要.
由于非特异性临床特征和正常的初步调查,包括大脑MRI,诊断AHDS可能具有挑战性.

研究的目的:

报告一个具有新型SLC16A2突变的AHDS病例.
突出T3/T4比率在确定AHDS时的诊断实用性.
强调早期生物化学查AHDS的重要性.

主要方法:

一个36个月大的男孩的病例报告,患有严重的神经发育迟缓和低血压.
分析不同时间点的甲状腺功能测试 (TSH,T3,T4).
基因分析以确定SLC16A2基因中的突变.
计算T3/T4比率的方法.

主要成果:

在SLC16A2基因中发现了一种新型半性c.1343_1344dup突变.
甲状腺剖析显示出一种典型的AHDS模式:自由T3升高,自由T4低,TSH极高,T3/T4比为1.31.
T3/T4比率显著升高 (>0.75 pmol/pmol),与AHDS一致.

结论:

该T3/T4比率作为一个有价值的生化标志物用于诊断 AHDS 在男性婴儿与不明原因的发育迟缓和低血压.
系统的诊断方法,包括早期T3测量和T3/T4比率计算,对于及时的AHDS诊断至关重要.
早期诊断AHDS,即使是正常的大脑MRI,也可以防止诊断延迟,并促进适当的管理.

关键词:

艾伦-赫伦顿-达德利综合征 (Allan-Herndon-Dudley syndrome) 是一种症状,它发生在一个人身上.这是一个MCT8缺陷.这种突变是SLC16A2突变.这就是T3/T4比率.神经发育延迟是一种神经发育延迟.

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