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Article

Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2010

Neves Solange Caires, Mezalira Paola Rossi, Dias Vera M A, Chagas Antonio J, Viana Maria, Targovnik Hector, Knobel Meyer, Medeiros-Neto Geraldo, Rubio Ileana G S

Abstract excerpt

The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal screening. Laboratory tests confirmed the permanent and severe CH with TIOD (99% perchlorate release). The coding sequence of TPO, DUOX2, and DUOXA2 genes and 2957 base pairs (bp) of the TPO...

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Source

Identifiers

PMID: 21340161
DOI: 10.1590/s0004-27302010000800012

Genes

TPO
DUOX2
DUOXA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.PMID 21340161Read ↗

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