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Article

Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing.

Journal of pediatric endocrinology & metabolism : JPEM - 24 Jun 2026

Köprülü Özge, Acar Sezer, Uzman Ceren Yılmaz, Erbaş İbrahim Mert, Nalbantoğlu Özlem, Hazan Filiz, Gürsoy Semra, Korkmaz Hüseyin Anıl, Özkan Behzat

Abstract excerpt

OBJECTIVES: Transient congenital hypothyroidism (TCH) is characterized by congenital hypothyroidism (CH) which spontaneously resolves in the first years of life. While most cases are sporadic, several studies from worldwide showed variants in DUOX2, DUOXA2, TSHR genes in the etiology of TCH. The aim of our study is to evaluate the genetic etiology of TCH. METHODS: A total of 54 patients from 50 families with TCH...

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Share to Congenital Hypothyroidism
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42112595
DOI: 10.1515/jpem-2026-0119

Genes

DUOX2
TSHR
DUOXA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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