Pseudohypoparathyroidism

In 1942 Dr. Albright described 3 patients with AHO phenotype and laboratory hypocalcemia findings in which the administration of parathyroid tissue extracts did not promote an increase in serum calcium or phosphaturia. This chemistry was basis of hypothesis of parathyroid hormone resistance. The AHO phenotype is a foreshortened 4^th or 5^th metacarpal (brachydactyly) in 92%, short stature in 76%, Rounded face in 71%, low IQ in 64%, Obesity in 61%, and subcutaneous calcification in 35%.In 1966, Tashjian et al. demonstrated elevated PTH concentrations in these patients. In 1969, Chase et al. presented that there was no urinary cAMP generation in patients with PHP and that the pathogenesis of this abnormality should be related to a renal defect in the generation of urinary cAMP by the PTH receptor. Since the 2000’s, Weinstein et al and Levine et al Investigating the molecular/genetic basis of the disease which is based on mutations in PTH- G-protein receptor. Specific mutations in this receptor lead to specific clinical manifestations.