Journal Club - Allan Herndon Dudley syndrome: Report of a novel pathogenic variant in MCT8 gene
Автор: Medical Dialogues
Загружено: 2023-02-22
Просмотров: 541
#thyroidhormonetransporter #monocarboxylasetansporter8 #allanherndondudleysyndrome #MCT8gene #serumt3 #scientificscholar
Deficiency of the thyroid hormone transporter, monocarboxylase tansporter 8 (MCT8) is associated with severe intellectual and motor disabilities as well as high serum T3 concentrations. Clinical diagnosis is often difficult and estimation of thyroid hormones especially free T3 (FT3) concentrations and appropriate genetic studies are necessary.
The case talks about the genetic investigation of a 1-year-old child associated with developmental delays and thyroid hormone functionality revealing single-base pair duplication in exon 1 of MCT8 gene being the responsible cause. This case study is covered in the Journal of Pediatric Endocrinology and Diabetes which is published by Scientific Scholar.
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