Fischer
Fakultäten » Medizinische Fakultät » Universitätsklinik Balgrist und Schweizerisches Paraplegikerzentrum » Orthopädie » Prof. Dr. Jan Fischer (ausgetreten) » Fischer
Completed research project
| Title / Titel | Etiology of pseudohypoparathyroidism | ||||
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| Abstract (PDF, 14 KB) | |||||
| Summary / Zusammenfassung | Pseudohypoparathyroidism is a disorder with target organ resistance. The clinical features include clinical hypoparathyroidism with secondary hyperparathyroidism as well as borderline or manifest hypothyroidism with raised serum levels of thyroid stimulating hormone. The diagnostic feature is a resistance of the urinary cyclic AMP excretion to exogenous parathyroid hormone. Moreover, a genetic deficiency of Gsa has been implicated for the etiology of the syndrome. An inactivating mutation of Gsa has been found in families with pseudohypoparathyroidism, but also in some of their clinically normal siblings. The hypothesis therefore of target organ resistance to parathyroid hormone being caused by this inactivating mutation of one Gsa allele alone is questionable. Future directions in the field include an analysis of sex-associated genomic imprinting. | ||||
| Publications / Publikationen | Fischer, J.A., Egert, F., Werder, E., Born, W.: An inherited mutation associated with functional deficiency of the a-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. J. Clin Endocrinol. Metab. 83: 935-938 (1998). | ||||
| Keywords / Suchbegriffe | Heterotrimeric G Protein Alpha-Subunit, Parathyroid Hormone, Antagonist, Pseudohypoparathyroidism | ||||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
Universität Zürich (position pursuing an academic career), Others |
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| Duration of Project / Projektdauer | Jan 1975 to Dec 2004 |