Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

ABSTRACT:

Introduction

Defects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to thyroglobulin (TG) gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe permanent hypothyroidism. We present high-throughput sequencing results of patients with TG variants.

Methods

A CH high-throughput sequencing-panel of the main genes involved in the regulation of thyroid hormonogenesis was performed to identify those TG variants that may be related to patient THD phenotype.

Results

We identified 21 TG gene variants in 19 patients (11.8%) which could explain their phenotype. Ten of those (47.6%) were not previously described. CH was biochemically severe in th

SUBMITTER: Fernandez-Cancio M 

PROVIDER: S-EPMC11260715 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature