title: A Case of Resistance to Thyroid Hormone (RTH) with a Negative Family History with Diagnosis Based on Persistent Palpitations.
abstract: Approximately 140 different mutations of thyroid hormone receptor β (TRβ) have been identified in resistance to thyroid hormone (RTH). We report herein a middle-aged man with a negative family history who was diagnosed with RTH based on persistent palpitations. Genetic analysis showed a TRβ mutation causing the substitution of alanine for proline 453 (P453A) in exon 10. Since treatment of RTH is different from that of Graves' disease and thyroid stimulating hormone-producing adenoma (TSHoma), a genetic analysis should be performed even in patients who have a negative family history of RTH and who are free of TSHoma when they present with persistent inappropriate secretion of thyroid stimulating hormone (SITSH).
authors.affiliation: First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Kurozumi
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Okada
authors.forename: Tadashi
authors.initials: T
authors.lastname: Arao
authors.forename: Yoshiya
authors.initials: Y
authors.lastname: Tanaka
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D037042:Thyroid Hormone Receptors beta / Q000235:genetics; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics; D013972:Thyrotropin / Q000494:pharmacology
chemical_list: D037042:Thyroid Hormone Receptors beta; D013972:Thyrotropin