Searchable abstracts of presentations at key conferences in endocrinology

ea0019p302 | Steroids | SFEBES2009

Differential transcription of 11β-hydroxylase and aldosterone synthase alleles in human adrenocortical tissue

MacKenzie S , Stewart P , Plouin P-F , Fraser R , Connell J , Davies E

Background: The CYP11B1 (11β-hydroxylase) and CYP11B2 (aldosterone synthase) genes are found in close proximity on human chromosome 8 and are highly polymorphic, enabling the definition of two common haplotypes. Haplotype1 includes the -344T and the Intron2 conversion polymorphisms in CYP11B2 and also the -1889T, -1859G polymorphisms in the regulatory region of CYP11B1. We and others have shown that these associate with increased aldosterone pr...

ea0029oc7.1 | Adrenal Clinical | ICEECE2012

Progression-free survival without treatment of malignant pheochromocytoma and paraganglioma at one year

Hescot S. , Leboulleux S. , Amar L. , Borget I. , Vezzosi D. , Libe R. , Niccoli P. , Borson-Chazot F. , Do Cao C. , Tabarin A. , de la Fouchardiere C. , Raingeard I. , Chougnet C. , Gimenez-Roqueplo A. , Young J. , Bertherat J. , Wemeau J. , Bertagna X. , Schlumberger M. , Plouin P. , Baudin E.

Pheochromocytoma and paraganglioma are defined as malignant by the occurence of metastasis in extra paraganglionic sites. The natural evolution of these tumors remains unknown.The aim of our retrospective study was to define the progression-free survival (PFS) of untreated Malignant Pheochromocytoma and Paraganglioma (MPP) at 12 months (12 m-PFS) and to look for prognostic markers of 12 m-PFS. We analyzed clinical parameters of patients followed within 8...

ea0029p32 | Adrenal cortex | ICEECE2012

KCNJ5 Mutations in European Families with Non-Glucocorticoid Remediable Familial Hyperaldosteronism

Mulatero P. , Tauber P. , Zennaro M. , Monticone S. , Lang K. , Beuschlein F. , Fischer E. , Burrello J. , Pallauf A. , Galmozzi M. , Amar L. , Williams T. , Strom T. , Graf E. , Bandulik S. , Penton D. , Plouin P. , Warth R. , Allolio B. , Jeunemaitre X. , Veglio F. , Reincke M.

Primary Aldosteronism (PA) is the most frequent cause of endocrine hypertension. Three forms of familial hyperaldosteronism (FH) have been described, named FH-I to -III. Recently, a mutation of KCNJ5 has been shown to be associated with FH-III, whereas the cause of FH-II is still unknown. In this study we searched for mutations in KCNJ5 in 46 patients from 21 families with FH, in which FH-I was excluded. We identified a new germline G151E mutation in two PA affected subjects f...