title: Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene.
abstract: The combination of elevated serum levels of free thyroid hormones with non-suppressed thyroid-stimulating hormone suggests the differential diagnoses of resistance to thyroid hormone or thyroid-stimulating hormone-secreting pituitary tumour. Clinical differentiation of these two conditions can be difficult, because patients with thyroid hormone resistance may exhibit various combinations of hypermetabolic and hypometabolic features, and laboratory results have limited sensitivity and specificity. We report a case of resistance to thyroid hormone in a Chinese family that illustrates this difficulty. The diagnosis could only be confirmed by the identification of a known disease-causing mutation in the thyroid hormone receptor beta gene in peripheral leukocytes. Availability of genetic tests will identify more cases in the future and improve our understanding of this condition.
authors.affiliation: Department of Medicine, Queen Elizabeth Hospital, 30 Gascoigne Road, Hong Kong.
authors.forename: A P S
authors.initials: AP
authors.lastname: Kong
authors.forename: C W
authors.initials: CW
authors.lastname: Lam
authors.forename: A O K
authors.initials: AO
authors.lastname: Chan
authors.forename: S F
authors.initials: SF
authors.lastname: Yiu
authors.forename: S C
authors.initials: SC
authors.lastname: Tiu
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D009154:Mutation; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D037042:Thyroid Hormone Receptors beta; D018382:Thyroid Hormone Resistance Syndrome / Q000188:drug therapy / Q000235:genetics*; D014284:Triiodothyronine / Q000031:analogs & derivatives* / Q000627:therapeutic use
chemical_list: D011988:Receptors, Thyroid Hormone; D037042:Thyroid Hormone Receptors beta; D014284:Triiodothyronine; C010642:3,3',5-triiodothyroacetic acid