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Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile.

Medicina (Kaunas, Lithuania) - 16 Jul 2024

Arteaga-Jacobo María Clara, Roco-Videla Ángel, Villota Arcos Claudio, González-Hormazábal Patricio, Gonzalo-Castro Víctor, Pérez-Flores María Virginia

Abstract excerpt

Background and Objectives: Congenital thyroid dyshormonogenesis is caused by alterations in the synthesis of thyroid hormones in a newborn. Additionally, 10 to 20% of these cases are hereditary, caused by defects in proteins involved in hormonal synthesis. One of the most common causes is mutations in the thyroid peroxidase (TPO) enzyme gene, an autosomal recessive disease. We aimed to detect mutations of the TPO...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39064575
DOI: 10.3390/medicina60071145
PMCID: PMC11279067

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