Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p32 | Bone, Growth Plate and Mineral Metabolism | IMPE2023

Multicentric carpotarsal Osteolysis Syndrome (MCTO) diagnosed in two year old Argentinian girl with mutation de novo in gene MAFB

Ojea Cintia , Maury Fuentes Kelly , Brunetto Oscar , Laura Damia Ana , Bocón Nadia

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...