Searchable abstracts of presentations at key conferences in endocrinology

ea0011oc47 | Endocrine genetics | ECE2006

Frequent involvement of BMP15 gene variants in women with premature ovarian failure

Di Pasquale E , Rossetti R , Marozzi A , Borgato S , Cavallo L , de Luca F , Einaudi S , Radetti G , Russo G , Sacco M , Beck-Peccoz P , Persani L

Premature ovarian failure (POF) is a common cause of female infertility affecting about 1–2% of women under the age of 40. This heterogeneous disorder is characterized by primary or secondary amenorrhea and elevated gonadotropin values. Several defects can cause POF, including autoimmunity, X chromosome abnormalities and gene mutations, but its pathogenesis is still unknown in the vast majority of women with normal karyotype. We recently described two sisters affected wit...

ea0029p992 | Growth hormone IGF axis - basic | ICEECE2012

C677T methylenetetrahydrofolate reductase gene polymorphism and colorectal neoplasms in acromegalic patients

Torre M. , Russo G. , Ragonese M. , Giandalia A. , Puglisi S. , De Menis E. , Arnaldi G. , Romanello G. , Cucinotta D. , Trimarchi F. , Cannavo S.

Introduction: Acromegalic patients have an increased risk of developing colorectal neoplasms (CN). A common polymorphism (C677T) in gene coding for methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism and in DNA synthesis, reparation and methylation, has been associated with CN risk in general population, but its role in acromegalic patients has never been explored yet.Aim: To investigate the contribution of MTHFR C677T polymorp...