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

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

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