Selective deficiency of 1,25 dihydroxycholecalciferol. A cause of isolated skeletal resistance to parathyroid hormone

S. A. Metz, D. J. Baylink, M. R. Hughes, Mark R Haussler, R. P. Robertson

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Abstract

To investigate the role of vitamin D metabolites in the pathogenesis of pseudohypoparathyroidism, we studied an elderly man with a unique variant of the disease, which was characterized by hypocalcemia, elevated serum parathyroid hormone (513±13 pg per milliliter, mean ± S.E.M., normal, <450) but normal renal responses (phosphate and cyclic AMP) to exogenous parathyroid extract. Treatment with parathyroid extract did not produce a calcemic effect, suggesting an isolated skeletal hyporesponsiveness to parathyroid hormone. Although 25-hydroxyvitamin D levels were not reduced, levels of 1,25-dihydroxycholecalciferol were extremely low (0.52 ng per deciliter; normal, 3.3 ± 0.6, S.D.). Treatment with 1,25-dihydroxycholecalciferol (1 μg by mouth per day for four days) increased circulating levels to normal (4.60 ng per deciliter) and restored to normal the calcemic response to parathyroid (change in calcium, 3.0 mg per deciliter). These data suggest that 1,25-dihydroxycholecalciferol deficiency may explain the skeletal resistance, but not the renal resistance often present in classic pseudohypoparathyroidism.

Original languageEnglish (US)
Pages (from-to)1084-1090
Number of pages7
JournalNew England Journal of Medicine
Volume297
Issue number20
StatePublished - 1977

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Calcitriol
Parathyroid Hormone
Pseudohypoparathyroidism
Kidney
Hypocalcemia
Vitamin D
Cyclic AMP
Mouth
Phosphates
Calcium
Therapeutics
Serum

ASJC Scopus subject areas

  • Medicine(all)

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Selective deficiency of 1,25 dihydroxycholecalciferol. A cause of isolated skeletal resistance to parathyroid hormone. / Metz, S. A.; Baylink, D. J.; Hughes, M. R.; Haussler, Mark R; Robertson, R. P.

In: New England Journal of Medicine, Vol. 297, No. 20, 1977, p. 1084-1090.

Research output: Contribution to journalArticle

Metz, S. A. ; Baylink, D. J. ; Hughes, M. R. ; Haussler, Mark R ; Robertson, R. P. / Selective deficiency of 1,25 dihydroxycholecalciferol. A cause of isolated skeletal resistance to parathyroid hormone. In: New England Journal of Medicine. 1977 ; Vol. 297, No. 20. pp. 1084-1090.
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