Çelik Nurullah, Demir Korcan, Dibeklioğlu Saime Ergen, Dündar Bumin Nuri, Hatipoğlu Nihal, Mutlu Gül Yeşiltepe, Arslan Emrullah, Yıldırımçakar Didem, Çayır Atilla, Hacıhamdioğlu Bülent, Sütçü Zümrüt Kocabey, Ünsal Yağmur, Karagüzel Gülay
Department of Pediatric Endocrinology, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
Department of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
Eur J Pediatr. 2024 Dec 19;184(1):92. doi: 10.1007/s00431-024-05931-7.
Allan-Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by motor and intellectual disabilities. Despite its rarity, there has been a rise in interest due to ongoing research and emerging therapy suggestions. In this multicenter, retrospective, cross-sectional study, the genetic characteristics and clinical data of twenty-one cases of genetically confirmed MCT8 deficiency were evaluated. The median age at the diagnosis was 2.4 (1.29; 5.9) years, which ranged from 0.5 to 14.0 years. The median follow-up period was 2.34 years, ranging from four months to 7.9 years. In 21 patients, 17 different variants were detected in the SLC16A2 gene. Eleven of these variants (c.1456delC, c.439G > T, c.949C > A, c.1392dupC, c.1612C > T, c.407dup, c.781del, c.589C > A, c.712G > A, c.311 T > A, c.1461del) have not been previously reported. In this study, with the exception of three cases with fT3/fT4 ratios of 4.95, 3.58, and 4.52, all cases exhibited fT3/fT4 ratios higher than five (9.9 (7.9; 12.0)).
MCT8 deficiency is a rare and devastating disorder characterized by central hypothyroidism and peripheral thyrotoxicosis. The fT3/fT4 ratio can be used as a useful diagnostic indicator of MCT8 deficiency in males with mental and motor retardation. There is a need to raise clinicians' awareness of this potentially treatable condition with the emergence of new and promising treatments.
• Allan-Herndon-Dudley syndrome, also known as MCT8 deficiency is a rare and devastating disorder characterized by central hypothyroidism and peripheral thyrotoxicosis.
• In this study, seventeen different variants were detected in the SLC16A2 gene, eleven of which (c.1456delC; c.439G>T; c.949C>A; c.1392dupC; c.1612C>T; c.407dup; c.781del; c.589C>A; c.712G>A; c.311T>A; c.1461del) have not been reported before. • The fT3/fT4 ratio can be used as a useful diagnostic indicator of MCT8 deficiency in males with mental and motor retardation.
艾伦 - 赫恩登 - 达德利综合征是一种以运动和智力残疾为特征的神经发育障碍。尽管其罕见，但由于正在进行的研究和新出现的治疗建议，人们对它的兴趣有所增加。在这项多中心、回顾性、横断面研究中，对21例基因确诊的MCT8缺乏症患者的遗传特征和临床数据进行了评估。诊断时的中位年龄为2.4（1.29；5.9）岁，范围为0.5至14.0岁。中位随访期为2.34年，范围为4个月至7.9年。在21例患者中，在SLC16A2基因中检测到17种不同的变异。其中11种变异（c.1456delC、c.439G＞T、c.949C＞A、c.1392dupC、c.1612C＞T、c.407dup、c.781del、c.589C＞A、c.712G＞A、c.311T＞A、c.1461del）此前未被报道。在本研究中，除了3例游离三碘甲状腺原氨酸/游离甲状腺素（fT3/fT4）比值分别为4.95、3.58和4.52的病例外，所有病例的fT3/fT4比值均高于5（9.9（7.9；12.0））。
MCT8缺乏症是一种罕见且严重的疾病，其特征为中枢性甲状腺功能减退和外周甲状腺毒症。fT3/fT4比值可作为智力和运动发育迟缓男性MCT8缺乏症的有用诊断指标。随着新的、有前景的治疗方法的出现，有必要提高临床医生对这种潜在可治疗疾病的认识。
• 艾伦 - 赫恩登 - 达德利综合征，也称为MCT8缺乏症，是一种罕见且严重的疾病，其特征为中枢性甲状腺功能减退和外周甲状腺毒症。
• 在本研究中，在SLC16A2基因中检测到17种不同的变异，其中11种（c.1456delC；c.439G>T；c.949C>A；c.1392dupC；c.1612C>T；c.407dup；c.781del；c.589C>A；c.712G>A；c.311T>A；c.1461del）此前未被报道。• fT3/fT4比值可作为智力和运动发育迟缓男性MCT8缺乏症的有用诊断指标。
