Searchable abstracts of presentations at key conferences in endocrinology

ea0029p162 | Bone & Osteoporosis | ICEECE2012

Effect of alcohol consumption on bone mineral density in healthy elderly Spanish males

Lavado-Garcia J. , Moran J. , Gonzalez Lopez-Arza L. , Costa-Fernandez C. , Guerrero-Bonmatty R. , Gonzalez Lopez-Arza M.

Background: There are no data concerning a relationship between alcohol and bone status of elderly Spanish men. Previous studies in other countries on the influence of alcohol intake on bone mineral density (BMD) in men are inconsistent and the effect of these variables on BMD is yet to be explored.Objective: The aim of this study was to describe the associations between total and beverage-specific alcohol intake and both BMD and bone ultrasound in elder...

ea0011p553 | Growth and development | ECE2006

Prevalence of the main GH receptor polymorphisms in GH deficient children and in the general population

Filisetti M , Mella P , Pilotta A , Costa L , Sparapani I , Zanola S , Guaragni B , Felappi B , Prandi E , Buzi F

GH acts at the target cell through the GH receptor (GHR), stimulating a cascade of events that leads to target gene transcription. Polymorphisms of the GHR (GHRPs) have been reported in the general population and have been described in exons 3, 6 and 10, although their prevalence is not well defined. It is conceivable that GHRPs might affect the growth response to exogenous GH in children with short stature of different origin. To evaluate the prevalence of the different GHRPs...

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...