ea0022h2.2 | Oral Communications Highlights 2 | ECE2010
Mantovani Giovanna
, Ferrante Emanuele
, Linglart Agnes
, Cappa Marco
, Cisternino Mariangela
, Maghnie Mohamad
, Beck-Peccoz Paolo
, Spada Anna
Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare metabolic disorders characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. Heterozygous loss of function mutations in the gene encoding the alpha-subunit of Gs (GNAS) inherited from the mother lead to PHP type Ia. PHP type Ia (PHP-Ia) is a disease in which the physical features (short stature, obesity, round face, brachydactyly and subcutaneous ossifications) that constitute Albri...