hrp0086p2-p181 | Bone & Mineral Metabolism P2 | ESPE2016

Pseudohypoparathyroidism Type IB Associated to Assisted Reproductive Technologies: Case Report

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...