Searchable abstracts of presentations at key conferences in endocrinology

ea0029oc15.4 | Thyroid Basic | ICEECE2012

The DNA methylation as a predisposition factor in the pathogenesis of congenital hypothyroidism in premature infants

Marelli F. , Gentilini D. , Weber G. , Vigone M. , Radetti G. , Persani L.

Introduction: Epidemiological data indicate that children born prematurely have a risk 3–5 fold higher of congenital hypothyroidism (CH). In addition premature infants born small for gestational age (SGA) have a risk of 12% higher to develop IC compared to prematures with appropriate development (AGA). The mechanisms that justify the increased risk of IC are still unknown. Some studies report a pattern of aberrant methylation associated with prematurity, intrauterine feta...

ea0029p1070 | Neuroendocrinology | ICEECE2012

SNPs and CNVs genotyping analysis of patients with idiopathic central hypogonadism (ICH). A novel approach to detect new candidate mechanisms

Libri D. , Bonomi M. , Duminuco P. , Guizzardi F. , Gentilini D. , Persani L.

Introduction: Idiopathic central hypogonadism (ICH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. ICH could be associated or not with hypo-anosmia respectively identifying the Kallmann’s syndrome (KS) or the normosmic ICH (nICH). Even though 14 disease genes have been identified, in 70% of patients no genetic cause could be identified, suggesting additional regulatory genes and still unknown mechanisms. Thus, with the aim to identify new ...