PSEUDOHYPOPARATHYROIDISM AND RELATED DISORDERS

Project: Research project

Project Details

Description

In 1942 Albright and his associates described the features of a new
clinical syndrome "pseudohypoparathyroidism" (PHP). Patients with this
disorder differ from those with idiopathic hypoparathyroidism: they show
characteristic constitutional features (Albright's hereditary
osteodystrophy - AHO) and do not respond to exogenous parathyroid hormone.
Subsequent to the original report, patients lacking the typical somatic
features of AHO but resistant to endogenous and administered PTH have been
described. We found previously that in PHP, UcAMP (urinary cyclic AMP)
does not increase normally in response to PTH administration. This
indicated that there is a defective hormone receptor-adenylate cyclase
complex in this disorder. We have now shown that many patients with
PHP+AHO show an approximately 50% reduction in Gs (the stimulatory receptor
adenylate cyclase coupling protein) in membranes from multiple tissues. Gs
deficiency presumably accounts for resistance to multiple hormones in such
patients. Most patients with PHP without AHO show normal Gs activity and
preliminary studies suggest a PTH receptor defect in such patients.
StatusNot started

Funding

  • National Institutes of Health

ASJC

  • Urology
  • Medicine(all)

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