ESPE Abstracts

Case Report: Novel case of short stature and co-occurrence of SHOX gene mutation and Fanconi Anemia. Fanconi anemia (FA) is a rare congenital disorder caused by mutations in any of over 16 documented genes leading to chromosomal fragility. Patients may present with physical manifestations including short stature or upper limb deformities, hematologic manifestations including progressive pancytopenia, or oncologic manifestations including solid tumors. Short stature (>2 SD ...

Background: Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), is a rare inherited disease of childhood, caused by the mutation of the AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP), and Addison’s disease (AD), and can be associated with other autoimmune diseases and/or manifestations of ectodermal dystrophy.Case...

Background: The parallel increase in prevalence of asthma and obesity in childhood has led to an increasing body of evidence about a possible link between the two conditions.Objective and hypotheses: To assess the prevalence of asthma symptoms in a representative sample of Greek schoolchildren and to evaluate its association with overweight/obesity as well as other socioeconomic, demographic and lifestyle factors.Method: This is a ...