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...

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...

ea0011p62 | Clinical case reports | ECE2006

APECED (Autoimmune PolyEndocrinopathy-Candidiasis-Ectodermal Dystrophy) syndrome with atypical or incomplete presentation: report of 4 cases with AIRE mutations in heterozygosity

Mazza C , Sparapani I , Costa L , Zanola S , Filisetti M , Pilotta A , Lombardi F , Spagnuolo MI , Valerio G , Franzese A , Radetti G , Buzi F

APECED is an autosomal – recessive syndrome defined by two of the following conditions: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) or Addison disease (AD). Other autoimmune endocrine or non-endocrine conditions may be associated, like thyroiditis, celiac disease, alopecia and nail dystrophy. APECED is caused by mutations in the AIRE gene, mapping to 21q22.3. We report here 4 cases with atypical or incomplete presentation, that have been geneti...