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Article

Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.

Thyroid : official journal of the American Thyroid Association - 1 Jun 2018

Mimoto Mizuho S, Karaca Anara, Scherberg Neal, Dumitrescu Alexandra M, Refetoff Samuel

Abstract excerpt

An individual with familial dysalbuminemic hyperthyroxinemia (FDH) due to a homozygous mutation (c.653G>A, p.R218H) in the human serum albumin (HSA) gene is reported. The patient was identified during evaluation of abnormal thyroid tests in a large family with multiple levels of consanguinity. He showed a greater increase in total thyroxine (T4) relative to that observed in heterozygous family members. The higher...

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Identifiers

PMID: 29676214
DOI: 10.1089/thy.2017.0564
PMCID: PMC5994679

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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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