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Pseudohypoparathyroidism Ia and Hypercalcitoninemia

Service de Médecine Interne et Endocrinologie (V.V.-G., A.F., C.B., M.D., J.-L.W.) and Laboratoire de Biochimie Endocrinologique (P.P.), Clinique Marc Linquette, USNA, and Service Central de Médecine Nucléaire, Hôpital Roger Salengro (M.D.’H.), CHU de Lille, 59037 Lille, France

Address all correspondence and requests for reprints to: Virginie Vlaeminck-Guillem, M.D., Ph.D., Service de Médecine Interne et Endocrinologie, Clinique Marc Linquette, USNA, 6 rue du Professeur Laguesse, 59037 Lille Cedex, France. E-mail: virginie.vlaeminck{at}wanadoo.fr

Abstract

Pseudohypoparathyroidism Ia (PHP Ia) is characterized by resistance to PTH and many other stimuli because of deficiency of stimulatory G protein -subunit. To determine the incidence, natural history, and mechanism of C cell dysfunction in PHP, calcitonin assays were performed in six patients with PHP Ia and four with pseudopseudohypoparathyroidism from three unrelated families. Controls included healthy subjects and patients with PHP Ib or hypoparathyroidism. The mean basal level of calcitonin was higher in PHP Ia patients than in controls (95.3 ± 112.7 vs. 3.7 ± 2.4 pg/mL; P = 0.005; n < 10). In PHP Ia patients, calcitonin levels rose over the normal range (30 pg/mL) after pentagastrin infusion in five patients and remained normal in one. Familial medullary thyroid carcinoma was clinically, biologically, and ultrasonographically ruled out over a mean follow-up exceeding 3 yr. Genomic screening for RET protooncogene mutations failed to reveal any anomaly. The calcitonin infusion test, which induced a significant increase in plasma cAMP in controls 30 and 60 min after infusion, failed to produce this response in PHP Ia patients, suggesting that the action of calcitonin was specifically impaired. PHP Ia may therefore be an independent etiology of hypercalcitoninemia and hyperresponsiveness to pentagastrin infusion.

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