[Pseudoidiopathic hypoparathyroidism].
Pseudoidiopathic hypoparathyroidism (PIHP) is a disease entity proposed by Nusynowitz et al. in 1973. The authors reported a patient with hypoparathyroidism who had normal to high levels of immunoreactive parathyroid hormone (PTH). Since the patient responded normally to exogenous PTH, they concluded that the most likely explanation for the pathogenesis was the production of PTH that was biologically inactive. PIHP is a very rare disorder and a limited number of patients have been reported, up to the present. Although some mutation of PTH gene is thought to be a possible cause of PIHP, no previous studies have detected genetic abnormalities. After briefly reviewing the original case of PIHP and other relevant case reports, this review discusses the diagnostic criteria for PIHP and a few problems in the differential diagnosis.
Akatsu
T
T
Third Department of Internal Medicine, National Defense Medical College.
Yamamoto
M
M
D003937:Diagnosis, Differential; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000209:etiology; D009154:Mutation; D010281:Parathyroid Hormone / Q000235:genetics; D012015:Reference Standards
D010281:Parathyroid Hormone