Bauer Andrew J, Auble Bethany, Clark Amy L, Hu Tina Y, Isaza Amber, McNerney Kyle P, Metzger Daniel L, Nicol Lindsey, Pierce Samuel R, Sidlow Richard
The Thyroid Center, Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.
Front Pediatr. 2024 Jul 22;12:1444919. doi: 10.3389/fped.2024.1444919. eCollection 2024.
Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the gene and resulting from dysfunctional thyroid hormone transport. This disorder is characterized by profound neurodevelopmental delay and motor disability due to a lack of thyroid hormone in the brain, and coexisting endocrinological symptoms, due to chronic thyrotoxicosis, resulting from elevated thyroid hormone outside the central nervous system (CNS). In February 2024, we reviewed the published literature to identify relevant articles reporting on the current unmet needs of patients with MCT8 deficiency. There are several main challenges in the diagnosis and treatment of MCT8 deficiency, with decreased awareness and recognition of MCT8 deficiency among healthcare professionals (HCPs) associated with misdiagnosis and delays in diagnosis. Diagnostic delay may also be attributed to other factors, including the complex symptomology of MCT8 deficiency only becoming apparent several months after birth and pathognomonic serum triiodothyronine (T3) testing not being routinely performed. For patients with MCT8 deficiency, multidisciplinary team care is vital to optimize the support provided to patients and their caregivers. Although there are currently no approved treatments specifically for MCT8 deficiency, earlier identification and diagnosis of this disorder enables earlier access to supportive care and developing treatments focused on improving outcomes and quality of life for both patients and caregivers.
单羧酸转运蛋白8（MCT8）缺乏症是一种罕见的X连锁疾病，由该基因突变引起，是甲状腺激素转运功能障碍所致。这种疾病的特征是，由于大脑中缺乏甲状腺激素，导致严重的神经发育迟缓及运动功能障碍，同时，由于中枢神经系统（CNS）外甲状腺激素水平升高引起慢性甲状腺毒症，还伴有内分泌症状。2024年2月，我们查阅了已发表的文献，以确定有关报道MCT8缺乏症患者当前未满足需求的相关文章。MCT8缺乏症的诊断和治疗存在几个主要挑战，医疗保健专业人员（HCPs）对MCT8缺乏症的认识和识别不足，这与误诊和诊断延误有关。诊断延误也可能归因于其他因素，包括MCT8缺乏症复杂的症状在出生后几个月才会显现，以及未常规进行具有诊断意义的血清三碘甲状腺原氨酸（T3）检测。对于MCT8缺乏症患者，多学科团队护理对于优化为患者及其护理人员提供的支持至关重要。虽然目前尚无专门批准用于治疗MCT8缺乏症的疗法，但对该疾病的早期识别和诊断能够使患者更早获得支持性护理，并开发专注于改善患者及其护理人员结局和生活质量的治疗方法。
