IMPE Abstracts

Background: Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder commonly caused by MAFB gene mutation. It is characterized by aggressive carpo tarsal osteolysis frequently associated with progressive nephropathy. MAFB negative regulates receptor activator of nuclear factor κB ligand - (RANKL) mediated osteoclast differentiation.Problem: The diagnosis and treatment of MCTO represents a ch...

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...

Introduction: Acid-labile subunit (ALS) forms ternary complexes with insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) being essential for normal circulating IGF-1 levels. The IGFALS gene encodes the ALS and loss-of-function variants in IGFALS cause ALS deficiency, which has a prevalence < 1/1.000.000. These patients generally present with moderate short stature, extraordinarily low serum levels of IGF-I and IGFBP-3 ...

Introduction: Thyroid Hormone Resistance (THR) is an uncommon genetic condition caused by decreased tissue sensitivity to thyroid hormones (THs). The main finding is the presence of elevated THs levels with unsuppressed TSH. In THR clinical signs of hormonal deficiency, sufficiency and excess can coexist.Aim: To report the clinical and biochemical findings in patients withTHR, highlighting common characteristics that cou...

Introduction: Puberty is a complex biological phenomenon where secondary sexual characteristics develop, complete sexual maturation and adult size is reached. Central precocious puberty (CPP) in girls is defined as the progressive appearance of sexual characteristics before 8 years old, with advanced bone age and acceleration of growth velocity, due to pituitary gonadal axis activation. Multiple studies have shown an increased incidence of CPP and a faster rat...