Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep221 | Reproduction, endocrine disruptors and signalling | ECE2015

Copy number variations in the X chromosome of Klinefelter syndrome

Ferlin Alberto , Rocca Maria Santa , Pecile Vanna , Selice Riccardo , Caretta Nicola , Foresta Carlo

Introduction: Klinefelter syndrome (KS) is characterised by the presence of at least one extra X chromosome and represents the most common chromosomal aberration in men. Apart from infertility, the clinical spectrum of KS is variable and often not directly related to hypogonadism, whose expression is also not unpredictable. Several genetic mechanisms may explain the clinical features and variability of the phenotype in KS. In particular, gene-dosage effects and the parental or...

ea0037ep222 | Reproduction, endocrine disruptors and signalling | ECE2015

Circulating levels of FSH in men are genetically determined: study of the combined effect of polymorphisms in FSHR and FSHB genes

Ferlin Alberto , Vinanzi Cinzia , Speltra Elena , Pengo Manuel , Rocca Maria Santa , Foresta Carlo

Introduction: Polymorphisms in the gene for FSH receptor (FSHR) and FSH β subunit (FSHB) might modulate FSH levels and represent genetic markers for a pharmacogenetic approach to male infertility treatment. rs6166 (c.2039 A>G, Asn680Ser) and rs1394205 (c.−29 G>A) in FSHR have been better analysed in women, whereas rs10835638 (−211 G>T) in FSHB seems to have a determinant role especially in men. However, studies considering the combined effect of th...

ea0081oc9.2 | Oral Communications 9: Environmental Endocrinology | ECE2022

Effect of legacy and new generation PFAS on thyrocyte function

De Toni Luca , Di Nisio Andrea , Dall'Acqua Stefano , Sut Stefania , Rocca Maria Santa , Ferlin Alberto , Foresta Carlo

Perfluoroalkyl substances (PFASs) have been claimed as thyroid disrupting chemicals since the exposure to several PFASs was significantly associated with thyroid hormones derangements. Demographics such as sex, age, and disease status likely influence the associations between PFASs exposure and thyroid hormones since major hypothyroidism effects were observed among pregnant women and infants. This study aims to evaluate of the possible impact of legacy and new-generation PFAS ...