Searchable abstracts of presentations at key conferences in endocrinology

ea0041oc11.4 | Bone & Calcium Homeostasis | ECE2016

The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterized by the EuroPHP network

Marta Elli Francesca , Linglart Agnes , Garin Intza , de Sanctis Luisa , Bordogna Paolo , Grybek Virginie , Pereda Arrate , Giachero Federica , Verrua Elisa , Mantovani Giovanna , Perez de Nanclares Guiomar

The clinical condition resulting from end-organ resistance to parathormone (rPTH), caused by (epi)genetic alterations of GNAS, was termed as Pseudohypoparathyroidism (PHP). The high phenotype heterogeneity, the existence of additional clinical features such as resistance to other hormones (TSH/GHRH/gonadotropins) and Albright’s hereditary osteodystrophy (AHO), led to the distinction of specific PHP subtypes.The purpose of the present work is to prov...

ea0056p739 | Growth hormone IGF axis - basic | ECE2018

Craniofacial fibrous dysplasia and long-term untreated GH excess in McCune–Albright syndrome

Lecumberri Beatriz , Gomes Mariana , Kreilinger Jose Juan Pozo , Esteban Isabel , Royo Arantxa , Perez de Nanclares Guiomar , Gomez de la Riva Alvaro

Introduction: Craniofacial fibrous dysplasia, characteristic of McCune-Albright syndrome (MAS), is usually present in patients with MAS related GH excess, and complicates their neurosurgical approach. We describe a 21-year-old male with severe craniofacial fibrous dysplasia and acute obstructive hydrocephalus due to a 39×35 mm cystic lesion in the third ventricle that occluded Monro’s foramina, in whom MAS and long-term untreated acromegaly were discovered.<p cla...