Searchable abstracts of presentations at key conferences in endocrinology

ea0035p90 | Bone and Osteoporosis | ECE2014

Familial hypocalciuric hypercalcemia: an important differential diagnosis from hyperparathyroidism

Luque-Fernandez Ines , Vicente Almudena , Luque Alessandra , Del Val Florentino , Garin Intza , Morlan Miguel Angel

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a rare, benign, autosomal dominant condition usually caused by heterozygous inactivating mutations in the gene encoding the calcium sensing receptor (CASR).Case: 22-year-old woman referred to endocrinology for suspected polycystic ovary syndrome. Hypercalcemia is detected. Laboratory tests showed persistent hypercalcemia with a serum total calcium of 11.1 mg/dl (8.8–10.2), phosphorus 2.8, i...

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...

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...