Advances in diseases associated with thyroid hormone transporter deficiency
10.3760/cma.j.issn.1673-4408.2025.02.010
- VernacularTitle:甲状腺激素转运体缺陷相关疾病研究进展
- Author:
Wei LI
1
;
Min ZHU
;
Bei HAN
;
Fen LU
;
Qiaoli ZHOU
Author Information
1. 南京医科大学附属儿童医院康复医学科 210008
- Keywords:
Thyroid hormone transporter;
SLC16A2;
MCT8;
OATP1C1
- From:
International Journal of Pediatrics
2025;52(2):117-121
- CountryChina
- Language:Chinese
-
Abstract:
Thyroid hormone（TH）plays an important role in human development and is involved in gene and protein expression in almost all tissues，especially in the development of the central nervous system.TH requires a TH transporter to enter the cell，and three families of TH transporter proteins are known，namely monocarboxylate transporters（MCTs），organic anion transporting polypeptides（OATPs）and L-type amino acid transporter（LAT）.MCT8 has been found to be a specific TH transporter，and OATP1C1 also plays an important role.Deficiency of TH transporters may lead to different degrees of dysfunction in the nervous system and endocrine system.Currently，more studies have been conducted on MCT8 deficiency，which presents with characteristic psychomotor retardation and TH abnormalities，and there are no specific treatment options.In this paper，we summarize the research progress on clinical phenotype，pathogenic mechanism，and treatment of thyroid hormone transporter defects related diseases to provide reference for clinical research.
