ea0026p542 | Bone/calcium/Vitamin D | ECE2011
Elli F M
, Barbieri A M
, de Sanctis L
, Bollati V
, Beck-Peccoz P
, Spada A
, Mantovani G
The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 113 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO) and resistance toward multiple hormones (PTH/TSH/GHRH/gonadotropins), whereas PHP-Ib patients classically display hormone resistance limited to PTH and TSH. Incoming data suggest that the two diseases share more genetic and clini...