title: A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma.
abstract: A patient is reported with resistance to thyroid hormone beta caused by a novel THRB gene mutation and coexisting pituitary microadenoma. A 41-year-old Thai woman presented with elevated serum thyroid hormone levels and non-suppressed thyrotropin (TSH). Magnetic resonance imaging showed a 4 mm × 2 mm pituitary adenoma. Five of her relatives had similar thyroid tests abnormalities, but a sister had Graves' disease. Thyroperoxidase and thyroglobulin antibodies were positive in all affected family members, except for the proband's 4.5-year-old niece. Lack of thyrotoxic symptoms and TSH suppression by triiodothyronine indicated incidentaloma rather than a TSH-secreting pituitary adenoma. Genetic analysis revealed a THRB gene mutation (c.1037G>T), resulting in p.G251V.
authors.affiliation: 1 Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University , Bangkok, Thailand .
authors.forename: Chutintorn
authors.initials: C
authors.lastname: Sriphrapradang
authors.affiliation: 2 Department of Medicine, The University of Chicago , Chicago, Illinois.
authors.forename: Panudda
authors.initials: P
authors.lastname: Srichomkwun
authors.affiliation: 2 Department of Medicine, The University of Chicago , Chicago, Illinois.|3 Department of Pediatrics, The University of Chicago , Chicago, Illinois.|4 The Committee on Genetics, The University of Chicago , Chicago, Illinois.
authors.forename: Samuel
authors.initials: S
authors.lastname: Refetoff
authors.affiliation: 5 Department of Medicine, Ratchaburi Hospital , Ratchaburi, Thailand .
authors.forename: Sunee
authors.initials: S
authors.lastname: Mamanasiri
mesh_terms: D000236:Adenoma / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010911:Pituitary Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D013785:Thailand; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: D037042:Thyroid Hormone Receptors beta
keywords: autoimmune diseases; inappropriate TSH secretion syndrome; mutation; pituitary tumor; thyroid hormone receptor; thyroid hormone resistance syndrome