ZVI FARFEL, M.D.; EITAN FRIEDMAN, M.D.
Pseudohypoparathyroidism type I is a hereditary disorder characterized by resistance to parathyroid hormone and other hormones that work via cyclic adenosine 3′, 5′monophosphate (cAMP). Most patients with this disorder have generalized deficient activity of Ns-protein (type Ia), which couples stimulatory hormone receptors to catalytic adenylate cyclase. In patients with normal Ns-protein activity (type Ib), a decreased incidence of resistance to hormones other than parathyroid hormone exists. Mental deficiency of unknown cause occurs in 47% to 75% of all patients with pseudohypoparathyroidism type I. Because mutations in the adenylate cyclase-cAMP system may affect the learning ability of Drosophila flies, we assessed mental deficiency in 25 patients whose Ns-protein activity we had determined: 9 of 14 patients with type Ia disorder and 0 of 11 patients with type Ib disorder had mental deficiency. We suggest that Ns-protein deficiency, reduced cAMP levels, or both, are involved in the mental deficiency in these patients and probably in mental function in humans.
FARFEL Z, FRIEDMAN E. Mental Deficiency in Pseudohypoparathyroidism Type I Is Associated with Ns-Protein Deficiency. Ann Intern Med. ;105:197–199. doi: 10.7326/0003-4819-105-2-197
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Published: Ann Intern Med. 1986;105(2):197-199.
Endocrine and Metabolism, Metabolic Bone Disorders, Neurology.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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