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The Journal of Clinical Endocrinology & Metabolism Vol. 83, No. 3 935-938
Copyright © 1998 by The Endocrine Society

Original Studies

An Inherited Mutation Associated with Functional Deficiency of the {alpha}-Subunit of the Guanine Nucleotide-Binding Protein Gs in Pseudo- and Pseudopseudohypoparathyroidism1

J. A. Fischer, F. Egert, E. Werder and W. Born

Research Laboratory for Calcium Metabolism, Departments of Orthopedic Surgery, Medicine, and Pediatrics, University of Zurich, Zurich, Switzerland

Address all correspondence and requests for reprints to: Prof. J. A. Fischer, Klinik Balgrist, Forchstrasse 340, 8008 Zurich, Switzerland.

Pseudohypoparathyroidism type Ia (PSP) is a disorder characterized by Albright’s osteodystrophy, secondary hyperparathyroidism, lowered Gs activity, and resistance of the urinary cAMP excretion to exogenous PTH. The patients had raised basal serum levels of TSH and/or excessive TSH response to TRH. Here we have described a 38-bp deletion at the exon 1/intron 1 boundary of one Gs{alpha} allele in two mothers with pseudo-PSP and in six offsprings with PSP of a kindred with Albright’s osteodystrophy. The deletion eliminates the splice donor site of exon 1. The pseudo-PSP patients presented decreased Gs activity, but normal urinary cAMP responses to PTH and normal TSH levels and responses to TRH. As monitored during 22 yr, they had normal serum levels of calcium and PTH. The findings demonstrate the same inherited functional defect of Gs{alpha} in two female patients with pseudo-PSP and in six of their offspring with PSP. The pathogenesis of clinical hypoparathyroidism remains to be clarified.




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