Endocrine Abstracts

Introduction: Pseudohypoparathyroidism (PHP) is an orphan disease caused by a mutation in the GNAS gene encoding the α-subunit of G-protein. PHP is characterized by multihormonal resistance. A correlation between the genotype and phenotype of patients with GNAS mutations hasn’t yet been described.Clinical Case: Patient T., 19 years old male, admitted to our Centre with general weakness and overweight. Hypocalcemia, hyperphosph...