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

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...

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Veröffentlicht in:	Endocrine Journal 2017, Vol.64(11), pp.1087-1097
Hauptverfasser:	Narumi, Satoshi, Fox, Larry A, Fukudome, Keisuke, Sakaguchi, Zenichi, Sugisawa, Chiho, Abe, Kiyomi, Kameyama, Kaori, Hasegawa, Tomonobu
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acids Autoantigens - genetics Autoantigens - metabolism Child Congenital hypothyroidism Congenital Hypothyroidism - diagnosis Congenital Hypothyroidism - genetics Congenital Hypothyroidism - metabolism Congenital Hypothyroidism - pathology DNA Mutational Analysis Enzymatic activity Female Genetic Association Studies Genetic screening Genetic Testing Genetics Goiter HEK293 Cells Humans Hypothyroidism Infant, Newborn Iodide peroxidase Iodide Peroxidase - deficiency Iodide Peroxidase - genetics Iodide Peroxidase - metabolism Iron-Binding Proteins - genetics Iron-Binding Proteins - metabolism Male Medical screening Mutation Neonatal Screening Newborn screening Pedigree Peroxidase Phenotype Pregnancy Severity of Illness Index Thyroglobulin Thyroid Thyroid gland Thyroid peroxidase (TPO) Thyroid-stimulating hormone Thyroxine Triiodothyronine
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