Searchable abstracts of presentations at key conferences in endocrinology

ea0081yi5 | Young Investigator Awards | ECE2022

Pseudohypoparathyroidism: focus on neonatal features, preliminary data from a retrospective analysis of a large cohort of patients

Del Sindaco Giulia , Pagnano Angela , Berkenou Jugurtha , Rothenbuhler Anya , Arosio Maura , Linglart Agnes , Mantovani Giovanna

Since the first description of pseudohypoparathyroidism (PHP) a remarkable clinical variability was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities. PHP and related disorders vary in clinical presentation and disease severity, and clinical features usually deve...

ea0090oc8.1 | Oral Communications 8: Calcium and Bone | ECE2023

Clinical picture of early infancy PTH-resistance syndromes: is it time to improve diagnostic criteria?

Del Sindaco Giulia , Pagnano Angela , Berkenou Jugurtha , Ferrante Emanuele , Rothenbuhler Anya , Arosio Maura , Mantovani Giovanna , Linglart Agnes

Since the first description of inactivating PTH/PTHrP signaling disorders (iPPSDs, historically named pseudohypoparathyroidism (PHP)) a remarkable clinical variability was observed, especially in clinical presentation, which seems to be age-dependent. The main clinical features, including PTH resistance, brachydactyly and short stature, develop during mid and late childhood, whilst minor clinical features such as a round face, rapid weight gain and subclinical hypothyroidism a...