Thyroid hormone cell membrane transport defect.

Thyroid hormone cell membrane transport defect. Endocr Dev. 2014;26:108-17 Authors: Ramos HE Abstract In the last few years, many studies have pinpointed the crucial role of thyroid hormone (TH) transporters for TH action in human target cells. The importance was better documented by the phenotype observed in patients harboring mutations of the monocarboxylate transporter 8 (MCT8) gene immediately linked to Allan-Herndon-Dudley syndrome, in which severe neurological findings are associated with abnormal TH levels. The hereditary pattern of MCT8 mutations is X chromosome linked, with males presenting a homogeneous neurological psychomotor phenotype and mental retardation associated with low serum thyroxine and elevated triiodothyronine levels. The mechanism of disease is still obscure, and the physiopathology as well as the existent therapeutic options need to be discussed in order to improve the clinical management. © 2014 S. Karger AG, Basel. PMID: 25231447 [PubMed - in process]

http://www.ncbi.nlm.nih.gov/pubmed/25231447?dopt=Abstract

Source: Endocrine Development - September 20, 2014 Category: Endocrinology Authors: Ramos HE Tags: Endocr Dev Source Type: research