Endocrine Abstracts

Pseudohypoparathyroidism (PHP) is a term applied to a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone. Most of the PHP forms are caused by defects in GNAS: PHP-Ia (characterized by PTH and TSH resistance with Albright Hereditary Osteodystrophy) is caused by heterozygous inactivating mutations in those exons of GNAS encoding the α subunit of the stimulatory G-protein, and the autosomal dominant form of PHP-Ib (PTH an...