Endocrine Abstracts

Subcutaneous lipomas (SL) are the most common benign mesenchymal tumors with an estimated prevalence of 1%. They usually appear single, between 50–60 years of age, without gender differences. However, multiple lipomatosis (ML) occurs in 5–10% of patients, more frequently in men and almost 30% of them have family history of ML. Cytogenetic abnormalities are found in 50–80% of cases (at 12q15) and the presence of an underlying mitochondrial dysfunction has been su...

Introduction: Hypophosphataemic rickets (HR) is a rare genetic disorder characterized by poor growth, short desproporcionate stature and lower limb anomalies. Clinical manifestations usually appear before 1 year of age, this entity is characterised by osseus hypomineralisation, secondary to the increased expression of phosphatonins, especially FGF23, which acts in the sodium and phosphate co-transporters of the proximal convoluted tubule, inducing phosphaturia. HR exhibits AD,...