ESPE Abstracts

Background: Obstructive sleep apnea syndrome (OSAS) in children is a common medical disorder, often associated with adenoid and tonsil hypertrophy. The prevalence of OSAS has been increasing due to alarming rates of obesity in childhood. This is a very concerning subject since there is a higher risk of cardiovascular outcomes in patients with elevated BMI and OSAS.Objective and hypotheses: The aim of this study is to report a hazardous case regarding chi...

Background: Laparoscopic sleeve gastrectomy (LSG) has been established as a safe and effective bariatric procedure during adolescence, but its long-term results remain uncertain. Our aim was to report and compare the short- and long-term outcomes of LSG in adolescents.Methods: We performed a retrospective analysis of patients submitted to LSG between 2010 and 2013 in our Institution. Baseline, short-term (1 year) and lon...

Introduction: Primary Pseudotumor cerebri (PPTC), also known as idiopathic intracranial hypertension, is clinically characterized by increased intracranial pressure in an alert and oriented patient, with no evidence of deformity or obstruction of the ventricular system on neuroimaging. Cerebrospinal fluid analysis is normal except for increased intracranial pressure at lumbar puncture, greater than the 90th percentile (28 cm of H2O) in the pediatric population. Papilledema may...

Background: Childhood obesity is one of the most prevalent and challenging health care concerns. In this context, insulin resistance (IR) is an important disorder with strong association with metabolic (type 2 diabetes, hypercholesterolemia) and cardiovascular (hypertension, atherosclerosis) outcomes. Clinical trials have been showing Metformin as an effective drug on reducing the IR and BMI. However, there is little data on use of metformin in children....

Aggrecan, encoded by the ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. A heterozygous ACAN mutation has been reported as a major cause of idiopathic short stature, it causes an accelerated bone age maturation and premature growth cessation. Recently, the effectiveness of GH treatment for achieving an appropriate adult height has been reported in several cases with ACAN mutations. We report the case of a 3 years and 2 months old boy, with ...

Introduction: β-thalassemia is a chronic hereditary hemolytic anemia characterized by a defect in the synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East. Transfusion programs and chelation therapy have considerably extended the life expectancy of patients. This has led to an increase in the prevalence of complications related to iron overload, growth retardation is extremely common in polyt...

Introduction: Β-thalassemia is a hereditary chronic hemolytic anemia characterized by a defect in the synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East Transfusion programs and chelation therapy have greatly extended the life expectancy of patients. This has led to an increase in the prevalence of endocrine complications, linked to iron overload The hypothyroidism is one of the most commonly reported comp...

Introduction: Β-thalassemia is a chronic hereditary hemolytic anemia characterized by a defect of synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East. Chelation therapy significantly prolonged the life expectancy of patients. This has led to an increase in the prevalence of endocrine complications, linked to iron overload. Gonadal Dusfunction is a frequent complication in polytransfused beta...

Introduction: McCune - Albright syndrome is rare genetic disorder characterized by periphereal precocious puberty, fibrous bone dysplasia and cafe au lait skin spots.Case: Almost 5 years old girl was sent to Endocrinological department due to precocious thelarche and menarche. At the time of first examination, patient had breast M 3 and large cafe au lait macule on the right tight, no pubic and axilar hair was present, n...

Background: Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, which presents with anemia in early infancy. Survival depends on blood transfusions, which in consequence lead to iron overload (IOL). The most common complications of IOL are hepatic cirrhosis, endocrinopathies and cardiomyopathy.Results: We present the case of 17 years old girl with DBA and IOL-associated endocrinopathies. Her treatment consists of multiple blo...