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August 1988, Vol 142, No. 8 >
Article | August 1988

Normocalcemic Patient With Pseudohypoparathyroidism: Effect of Parathyroid Hormone and Dibutyryl Cyclic Adenosine 3′, 5′-Monophosphate on 1,25-Dihydroxycholecalciferol Formation FREE

KATSUMI Goji, MD
Am J Dis Child. 1988;142(8):815-817. doi:10.1001/archpedi.1988.02150080021011.
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Sir.—Pseudohypoparathyroidism (PHP) is a heterogeneous syndrome characterized by the resistance of the target tissues to the action of parathyroid hormone (PTH). Although PHP is usually considered to be a disorder of hypocalcemic patients, normocalcemic patients with PHP have been described recently.1

This report describes an 11-year-old normocalcemic girl with PHP. In this patient, the serum concentration of 1,25-dihydroxycholecalciferol was within the normal range, in contrast to the abnormally low values of this

metabolite previously reported in hypocalcemic patients with PHP.2 The purpose of this article is to report the acute response of calciferol metabolite concentrations to PTH and dibutyryl cyclic adenosine 3′,5′-monophosphate (cAMP) infusion in a normocalcemic patient with PHP.

Patient Report.—An 11-year-old girl presented for evaluation of short stature. She was a short, stocky girl with rounded facies; she was 126.0 cm tall (2.9 SDs below normal mean for age), weighed 28.9 kg (14% above average weight

REFERENCES

1 +
Drezner MK, Haussler MR:  Normocalcemic pseudohypoparathyroidism: Association with normal vitamin D3 metabolism . Am J Med 1979;;66:503-508.
Link to Article
2 +
Drezner MK, Neelon FA, Haussler M, et al:  1,25-Dihydroxycholecalciferol deficiency: The probable cause of hypocalcemia and metabolic bone disease in pseudohypoparathyroidism . J Clin Endocrinol Metab 1976;;42:621-628.
Link to Article
3 +
Drezner MK, Neelon FA:  Pseudohypoparathyroidism , in Stanbury JB, Wyngaarden DS, Fredrickson DS, et al (eds): The Metabolic Basis of Inherited Disease . New York, McGraw-Hill International Book Co, 1983;, pp 1508-1527.
4 +
Parfitt AM, Kleerekoper M:  Clinical disorders of calcium, phosphorus, and magnesium metabolism , in Maxwell MH, Kleeman CR (eds): Clinical Disorders of Fluid and Electrolyte Metabolism . New York, McGraw-Hill International Book Co, 1980;, pp 947-1151.
5 +
Tanaka Y, Deluka HF:  The control of 25–hydroxyvitamin D metabolism by inorganic phosphorus . Arch Biochem Biophys 1973;;154:566-574.
Link to Article

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
Drezner MK, Haussler MR:  Normocalcemic pseudohypoparathyroidism: Association with normal vitamin D3 metabolism . Am J Med 1979;;66:503-508.
Link to Article
2 +
Drezner MK, Neelon FA, Haussler M, et al:  1,25-Dihydroxycholecalciferol deficiency: The probable cause of hypocalcemia and metabolic bone disease in pseudohypoparathyroidism . J Clin Endocrinol Metab 1976;;42:621-628.
Link to Article
3 +
Drezner MK, Neelon FA:  Pseudohypoparathyroidism , in Stanbury JB, Wyngaarden DS, Fredrickson DS, et al (eds): The Metabolic Basis of Inherited Disease . New York, McGraw-Hill International Book Co, 1983;, pp 1508-1527.
4 +
Parfitt AM, Kleerekoper M:  Clinical disorders of calcium, phosphorus, and magnesium metabolism , in Maxwell MH, Kleeman CR (eds): Clinical Disorders of Fluid and Electrolyte Metabolism . New York, McGraw-Hill International Book Co, 1980;, pp 947-1151.
5 +
Tanaka Y, Deluka HF:  The control of 25–hydroxyvitamin D metabolism by inorganic phosphorus . Arch Biochem Biophys 1973;;154:566-574.
Link to Article

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