ESPE Abstracts

Introduction: Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem disease with a frequency of 1:6,000-10,000. It is caused by variants in the genes encoding hamartin (TSC 1) and tuberin (TSC 2) that normally act as inhibitors of the mTOR signaling cascade that regulates cell proliferation and migration, angiogenesis, and cell metabolism. The most frequent clinical presentation includes hypochromic macules, angiofibromas, hamartomas in the centra...

Introduction: Denosumab is a RANK-L inhibitory monoclonal antibody approved in adults for treatment of aneurysmal bone cyst (ABC) and giant cell tumor (GCT). Although it has shown to improve postsurgical morbidity and stop progression in unresectable forms, there is limited data to guide its use in growing patients, with reports of endocrinology disorders.Aim: Evaluate frequency, presentation and treatment of adverse eff...

Introduction: ABCD syndrome is characterized by hypercalcemia, hypercalciuria, nephrocalcinosis, and renal impairment, generally under 4 years old. This is a rare cause of pediatric hypercalcemia with only 7 cases published, but it is believed to be underdiagnosed. The suspected mechanism would be associated with overexpression of transient receptor potential channels (TRP) that modulate intestinal absorption of calcium, since TRP-M2 is encoded on chromosome 2...

Introduction: BIPSS before and after desmopressin stimulation has been shown to be a useful tool for diagnosis of ACTH-dependent CD and negative magnetic resonance imaging (MRI)or positive MRI but inconsistent biochemical data, in adult patients. However, little is known about its usefulness in pediatric population.Objective: To evaluate the prevalence of negative MRI, the sensitivity of BIPSS before and after desmopress...

Background: Hereditary hypophosphatemic rickets (HHR) comprises a group of rare disorders characterized by renal phosphate wasting and impaired vitamin D metabolism. Numerous genetic defects can underlie this condition, with the X-linked dominant form (XLHR) being the most prevalent (1 in 20,000 individuals) resulting from inactivating variants in the PHEX gene.Aim: To characterize a large cohort of 99 argentini...

Introduction: Congenital disorders of glycosylation (CDG) are metabolic conditions resulting from defects in the glycosylation pathway. In addition to the primary neurological symptoms, other possible clinical findings may include distinctive coagulation abnormalities, as well as hepatic, gastrointestinal and, less frequently, hormonal disorders. The ALG1 gene defect is the third most prevalent CDG and compromises β-1,4 mannosyltransferase activity, which...