Searchable abstracts of presentations at key conferences in endocrinology

ea0029p888 | Female Reproduction | ICEECE2012

An invdup (15) associated with premature ovarian insufficiency

Viola D. , Valetto A. , Bertini V. , Simi P. , Vitti P.

Premature ovarian insufficiency (POI) is a disorder in which amenorrhea, associated to elevated levels of gonadotropins, occurs before the age of 40 years.The proband, a 36-year-old woman, was born at term after an uneventful pregnancy and delivery from healthy non-consanguineous parents. Growth and mental developmental milestones were normal. At the age of 12 years she presented menarche followed by regular menses, she had no miscarriage and had a succe...

ea0029p49 | Adrenal cortex | ICEECE2012

Prevalence and Characteristics of Familial Hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino - GENetic forms).

Mulatero P. , Tizzani D. , Viola A. , Monticone S. , Williams T. , Burrello J. , Galmozzi M. , Fulcheri C. , Chiarlo M. , Veglio F.

Primary Aldosteronism (PA) is the most frequent cause of secondary hypertension and patients display an increased prevalence of cardiovascular events compared to essential hypertensives. To date, three familial forms of PA have been described and termed, familial hyperaldosteronism types I, II and III (FH-I to -III). The aim of this study was to investigate the prevalence and clinical characteristics of the three forms of FH in a large population of PA patients. Three hundred ...

ea0029p1758 | Thyroid cancer | ICEECE2012

BRAFV600E mutation is an indipendent predictive prognostic factor for persistent/recurrent disease in low risk differentiated thyroid cancer patients: a 5 year follow up study

Viola D , Torregrossa L , Giannini R , Ugolini C , Biagini A , Romei C , Molinaro E , Agate L , Basolo F , Pinchera A , Vitti P , Elisei R

BRAFV600E mutation is the most frequent genetic alteration (29–83%) of papillary thyroid carcinoma (PTC). Many authors have demonstrated that the presence of the mutation is associated with a more advanced tumor stage at diagnosis and a worse outcome but anyone assessed if BRAFV600E mutation could be useful prognostic marker in low risk PTC patients (T1-T2N0M0, 7th TNM classification).Aim of this study was to evaluate if the presence of BRAFV600E mu...