IMPE Abstracts

Duchenne muscular dystrophy (DMD) is a rare genetic disease characterized by progressive muscular dystrophy. Immobilization, the pathophysiology of the disease and treatment with glucocorticoids predispose to poor bone health, leading to an increased risk of fracture in these patients. Another of the most common associated endocrinological abnormalities is hypogonadotrophic hypogonadism, which can aggravate bone health. Knowledge of the risk factors and the natural history of ...

Introduction: Paragangliomas (PGLs) are uncommon neuroendocrine tumors. These tumors can originate from either the sympathetic or parasympathetic paraganglia. Cardiac PGLs (CPGLs) are extremely rare, as thoracic localization represents less than 2% of PGLs. There are few reported cases in pediatric age. The most frequent cause of inherited phaeochromocytomas/paragangliomas are germline pathogenic variants in Succinate Dehydrogenase Subunit B, C and D genes (SD...