hrp0086p2-p181 | Bone & Mineral Metabolism P2 | ESPE2016
Fernandez Monica
, Riquelme Joel
, Castiglioni Claudia
, Jueppner Harald W
, Mericq Veronica
Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP Ib have been found to date.Clinical case: 7.4-years-old male with...