AJP - Endocrinology and Metabolism, Vol 243, Issue 1 37-E42, Copyright © 1982 by American Physiological Society
Deficiency of hormone receptor-adenylate cyclase coupling protein: basis for hormone resistance in pseudohypoparathyroidism
A. M. Spiegel, M. A. Levine, G. D. Aurbach, R. W. Downs Jr, S. J. Marx, R. D. Lasker, A. M. Moses and N. A. Breslau
Pseudohypoparathyroidism is an inherited disorder associated with
resistance to the action of several hormones, including parathyroid
hormone, thyroid-stimulating hormone, follicle-stimulating hormone, and
luteinizing hormone. The disorders described under this designation are
heterogeneous in regard to the underlying genetic defects, the phenotypic
manifestation, and the severity of the defects in hormone action. The
majority of affected individuals who also have the characteristic skeletal
changes (heredity osteodystrophy) have a defect in the guanine nucleotide
regulatory protein (G protein) that is essential for coupling certain
cell-surface hormone receptors to the adenylate cyclase system. This defect
is probably the cause for resistance to the action of multiple hormones. In
the remaining patients the cause for hormone resistance has not been
identified.
