Searchable abstracts of presentations at key conferences in endocrinology

ea0014p118 | (1) | ECE2007

Novel germline VHL mutations associated to uncommon clinical presentations

Ercolino Tonino , Becherini Lucia , Simi Lisa , Sole Gaglianò Maria , Nesi Gabriella , Valeri Andrea , Mannelli Massimo

The von Hippel-Lindau (VHL) syndrome is an inherited multi-tumor disorder characterized by clinical heterogeneity and high penetrance. Pheochromocytoma (Pheo) is present in 10-15% of cases. It can be isolated or associated with other lesions such as hemangioblastomas, kidney cysts or cancer, and pancreatic lesions. Pheos secrete norepinephrine and are generally located in the adrenals. While performing genetic testing in patients affected by apparently sporadic pheos or PGLs, ...

ea0035oc11.4 | Diabetes and Obesity 2 | ECE2014

A novel adult human adipose stem cell model from inducible brown fat surrounding pheochromocytoma tumors

Di Franco Alessandra , Guasti Daniele , Mazzanti Benedetta , Ercolino Tonino , Nesi Gabriella , Bani Daniele , Forti Gianni , Mannelli Massimo , Valeri Andrea , Luconi Michaela

The recent discovery of the presence of brown adipose tissue (BAT) also in human adults is pivotal for development of anti-obesity therapies. This type of fat, in fact, mainly consists of brite cells (brown adipocytes appearing for a browning process in white fat) which are involved in adiposity control. The origin of brite cells in adult white adipose tissue (WAT) is still unclear as human cell models are lacking.Our study demonstrated the presence of B...