[Pseudohypoparathyroidism. Analysis of a clinical case with late development].
A case of pseudohypoparathyroidism of characteristic phenotype and metabolism is described. The condition was diagnosed at over 50 years of age following the appearance of hypocalcaemia and calcification of basal ganglia which responded quickly to treatment with vitamin D and orally administered calcium. This case gives the opportunity to describe a rare hereditary disease and discuss which mechanisms triggered off the symptomatology: mechanisms which involve PTH, the action of which is still not fully known.
D002114:Calcinosis / Q000209:etiology; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006621:Hip Joint; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D007621:Karyotyping; D008875:Middle Aged; D010003:Osteoarthritis / Q000150:complications; D010641:Phenotype; D011547:Pseudohypoparathyroidism / Q000188:drug therapy / Q000235:genetics*; D013701:Temporal Bone
D006887:Hydroxycholecalciferols
Pseudoipoparatiroidismo. Analisi di un caso clinico ad evoluzione tardiva.