ESPE Abstracts

Introduction: McCune-Albright syndrome (MAS) is a rare sporadic condition defined by the classic triad of fibrous dysplasia of bone, café au lait skin macules, and hyperfunctioning endocrinopathies. The molecular basis of MAS has been ascribed to the post-zygotic somatic gain-of-function mutations in the GNAS gene, which encodes the alpha subunit of G proteins, leading to constitutive activation of several G Protein-Coupled Receptors (GPCRs). Our aimis ...

Introduction: Mauriac syndrome is a rare condition affecting poorly controlled type 1 diabetics. It results from excessive accumulation of glycogen in the liver following chronic hyperglycaemia. It is manifested by delayed growth and pubertal development, as well as hepatomegaly and hepatic cytolysis. Early detection can improve the prognosis and prevent progression to serious complications. Our aimis to report the diagnostic and evolutionary features of four ...

Introduction: Growth hormone deficiency diagnosed in paediatrics is most often idiopathic. However, it is essential to look for pathology of the hypothalamic-pituitary region in order to individualise the management and follow-up of children according to the pituitary lineages affected. Our aimis to report the diagnosis particularities of malformative pathologies of the pituitary gland in children referred to the paediatric endocrinology consultation at Batna ...