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Article

Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.

Endocrine journal - 29 Nov 2017

Narumi Satoshi, Fox Larry A, Fukudome Keisuke, Sakaguchi Zenichi, Sugisawa Chiho, Abe Kiyomi, Kameyama Kaori, Hasegawa Tomonobu

Abstract excerpt

Thyroid peroxidase (TPO) deficiency, caused by biallelic TPO mutations, is a well-established genetic form of congenital hypothyroidism (CH). More than 100 patients have been published, and the patients have been diagnosed mostly in the frame of newborn screening (NBS) programs. Correlation between clinical phenotypes and TPO activity remains unclear. Here, we report clinical and molecular findings of two...

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Identifiers

PMID: 28867693
DOI: 10.1507/endocrj.EJ17-0194

Genes

TPO

Variants

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

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