Abstract Search

ea0049gp45 | Bone & Calcium Homeostasis 2 | ECE2017

Methylation patterns at the novel DMR of GNAS (GNAS-AS2) in pseudohypoparathyroidism 1B (PHP1B or iPPSD3) subtypes

Hanna Patrick , Rochtus Anne , Jueppner Harald , Mackay Deborah , Francou Bruno , Bouligand Jerome , Mantel Anne , Anagnostou Elli , Gaillard Dominique , Linglart Agnes

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...

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ea0041ep135 | Calcium and Vitamin D metabolism | ECE2016

From pseudohypoparathyroidism to inactivating PTH/PTHrP signaling disorder (iPPSD), a novel classification proposed by the European EuroPHP-network

Thiele Susanne , Mantovani Giovanna , Barlier Anne , Boldrin Valentina , Bordogna Paolo , Elli Francesca , Freson Kathleen , Garin Intza , Hanna Patrick , Izzi Benedetta , Hiort Olaf , Lecumberri Beatriz , Pereda Arrate , De Sanctis Luisa , Saraff Vrinda , Turan Serap , Usardi Alessia , Werner Ralf , de Nanclares Guiomar Perez , Linglart Agnes

Background: Disorders caused by impairments in the parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that 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 the results of an in vitro as...

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ePoster

ea0056gp175 | Parathyroid | ECE2018

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Mantovani Giovanna , Lecumberri Beatriz , Bastepe Murat , Monk David , de Sanctis Luisa , Thiele Susanne , Usardi Alessia , Ahmed Faisal , Bufo Roberto , Choplin Timothee , DeFilippo Gianpaolo , Devernois Guillemette , Eggermann Thomas , Elli Francesca , Freson Kathleen , Ramirez Aurora Garcia , Germain-Lee Emily , Groussin Lionel , Hamdy Neveen , Hanna Patrick , Hiort Olaf , Juppner Harald , Kamenicky Peter , Knight Nina , Kottler Marie-Laure , Le Norcy Elvire , Levine Michael A , Makitie Outi , Martin Regina , Martos-Moreno Gabriel Angel , Minagawa Masanori , Murray Philip , Pereda Arrate , Pignolo Robert , Rejnmark Lars , Rodado Rebecca , Rothenbuhler Anya , Saraff Vrinda , Shoemaker Ashley , Shore Eileen M , Silve Caroline , Turan Serap , Woods Philip , Zillikens M Carola , de Nanclares Guiomar Perez , Linglart Agnes

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities that share a common PTH/PTHrP signaling pathway. The clinical and molecular overlap of PHP and related disorders lead to difficulties in clinical and molecular diagnosis which prompt to the possibility of incorrect management of these patients. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseou...

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Endocrine Abstracts

Methylation patterns at the novel DMR of GNAS (GNAS-AS2) in pseudohypoparathyroidism 1B (PHP1B or iPPSD3) subtypes

From pseudohypoparathyroidism to inactivating PTH/PTHrP signaling disorder (iPPSD), a novel classification proposed by the European EuroPHP-network

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

BiosciAbstracts