hrp0098p3-337 | Late Breaking | ESPE2024

CSNK2B mutation: a rare cause of IGHD

Aouchiche Karine , Romanet Pauline , Barlier Anne , Brue Thierry , consertium Auragen , Pertuit Morgane , Reynaud Rachel , Saveanu Alexandru

Poirier-Bienvenue syndrome (POBINDS) is rare neurodevelopmental syndrome, resulting from germline hereteozygous CSNKB2 pathogenic variants. Patients mainly presented with severe epilepsy, delayed psychomotor development and/or profound intellectual disability. More recently patients with CSNK2B pathogenic variants and mild intellectual disability (ID), without any history of epileptic symptoms were reported. Short stature is present in 66% of patients, due in...

hrp0086fc2.2 | Bone & Mineral Metabolism | ESPE2016

From Pseudohypoparathyroidism to Inactivating PTH/PTHrP Signaling Disorder (iPPSD), a Novel Classification Proposed by the European EuroPHP-Network

Thiele Susanne , Mantovani Giovanna , Barlier Anne , Bordogna Paola , Elli Francesca M , Freson Kathleen , Garin Intza , Grybek Virginie , Hanna Patrick , Izzi Benedetta , Hiort Olaf , Lecumberri Beatriz , Pereda Arrate , de Sanctis Luisa , Silve Caroline , Turan Serap , Usardi Alessia , Saraff Vrinda , de Nanclares Guiomar Perez , Linglart Agnes

Background: Disorders related to an impairment in parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that now encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and an in vitro assay of Gs&#9...