title: [From gene to disease; thyroid stimulating hormone receptor, hyperthyroidism and hypothyroidism].
abstract: The thyroid-stimulating hormone receptor (TSH-R) gene appears to be very sensitive to mutagenesis, in view of the vast number of reported mutations. Loss-of-function germline mutations occur preferentially in the hormone-binding extracellular domain of the TSH-R, resulting in familial TSH resistance. Gain-of-function germline mutations occur preferentially in the transmembrane domain of the TSH-R, resulting in familial non-autoimmune hyperthyroidism. Familial gestational hyperthyroidism is due to a mutant TSH-R which is hypersensitive to chorionic gonadotropin. Somatic gain-of-function mutations are a major cause of toxic thyroid adenomas.
authors.affiliation: Academisch Medisch Centrum/Universiteit van Amsterdam, afd. Inwendige Ziekten, onderafd. Endocrinologie en Metabolisme, Meibergdreef 9, 1105 AZ Amsterdam. w.m.wiersinga@amc.uva.nl
authors.forename: W M
authors.initials: WM
authors.lastname: Wiersinga
mesh_terms: D000328:Adult; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D006980:Hyperthyroidism / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D007037:Hypothyroidism / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000209:etiology*; D011989:Receptors, Thyrotropin / Q000235:genetics*
chemical_list: D011989:Receptors, Thyrotropin