Endocrine Abstracts

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...

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...