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Research Article Free access | 10.1172/JCI106149

Pseudohypoparathyroidism: defective excretion of 3′,5′-AMP in response to parathyroid hormone

Lewis R. Chase, G. Leland Melson, and G. D. Aurbach

1Section on Mineral Metabolism, Metabolic Diseases Branch, National Institutes of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Maryland 20014

Find articles by Chase, L. in: PubMed | Google Scholar

1Section on Mineral Metabolism, Metabolic Diseases Branch, National Institutes of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Maryland 20014

Find articles by Melson, G. in: PubMed | Google Scholar

1Section on Mineral Metabolism, Metabolic Diseases Branch, National Institutes of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Maryland 20014

Find articles by Aurbach, G. in: PubMed | Google Scholar

Published October 1, 1969 - More info

Published in Volume 48, Issue 10 on October 1, 1969
J Clin Invest. 1969;48(10):1832–1844. https://doi.org/10.1172/JCI106149.
© 1969 The American Society for Clinical Investigation
Published October 1, 1969 - Version history
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Abstract

Urinary excretion of cyclic adenosine 3′,5′-monophosphate (3′,5′-AMP) was tested in normal subjects and patients with pseudohypoparathyroidism, idiopathic hypoparathyroidism, surgical hypoparathyroidism, and pseudopseudohypoparathyroidism under basal conditions and after a 15 min infusion of purified parathyroid hormone. Basal excretion of the nucleotide was less than normal in the patients with hypocalcemic disorders and greater than normal in pseudopseudohypoparathyroidism. Parathyroid hormone caused a marked increase in excretion of 3′,5′-AMP in all subjects except those with pseudohypoparathyroidism; nine patients with this disorder did not respond to the hormone and four showed a markedly deficient response. Radioimmunoassay showed that parathyroid hormone circulated in increased amounts in plasma from patients with pseudohypoparathyroidism and became undetectable when serum calcium was increased above 12 mg/100 ml. Suppression of parathyroid hormone secretion by induction of hypercalcemia did not alter the deficient response to exogenous hormone. The results indicate that: (a) parathyroid hormone circulates in abnormally high concentrations in pseudohypoparathyroidism and secretion of the hormone responds normally to physiological control by calcium; (b) testing urinary excretion of 3′,5′-AMP in response to infusion of purified parathyroid hormone appears to be an accurate and sensitive index for establishing the diagnosis of pseudohypoparathyroidism; and (c) the metabolic defect of the disorder can be accounted for by a lack of or defective form of parathyroid hormone-sensitive adenyl cyclase in bone and kidney.

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