Abstract
Pseudohypoparathyroidism type 1a is caused by mutations inactivating the alpha-subunit of the G-protein that is encoded by a gene GNAS. G protein is important signal transmitter within the cell and is part of the post-receptor signaling receptors for peptide hormones and certain other ligands.
During the life of the laboratory may therefore show some other hormonal deficits - the most common is mild hypothyroidism. Locus GNAS subject imprinting: If inactivating mutation inherited from the mother, clinically manifest Pseudohypoparathyroidism with AHO.
If it is inherited from the father, clinically manifest only AHO - a condition sometimes referred to as Pseudohypoparathyroidism in which the levels of calcium and parathyroid hormone normal. Hypocalcemia when Pseudohypoparathyroidism is treated by administering vitamin D or its active derivatives.