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Article

Clinical characteristics and genetics analysis for the ITD of congenital hypothyroidism.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jun 2022

Gong Lifei, Yang Nan, Zhao Jinqi, Tang Yue, Li Lulu, Yang Haihe, Kong Yuanyuan

Abstract excerpt

OBJECTIVES: Iodide transport defect (ITD) is one of the principal causes of congenital hypothyroidism (CH) and its primary molecular mechanism is a mutation of the sodium/iodide symporter (NIS) gene. This study aims to analyse the clinical characteristics and genetic mutations of ITD. METHODS: The participants were a pair of siblings diagnosed with congenital hypothyroidism. Inductively coupled plasma mass...

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Identifiers

PMID: 35438852
DOI: 10.1515/jpem-2022-0052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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