ESPE Abstracts

Background: Sitosterolemia is a rare autosomal recessive disorder characterized by intestinal hyperabsorption and decreased biliary excretion of dietary plant sterol, due to mutations in adenosine-triphosphate (ATP)-binding-cassette (ABC) transporter family (ABCG8 and ABCG5).Case report: A 7.86 years old boy was referred to the Childhood Lipid Clinic due to incidental finding of hypercholesterolemia: total cholesterol 524 mg/dl (13.54 mmol/l), LDL-choles...

Background: Autoimmune thyroid disease can be sometimes associated with autoimmune thrombocytopenia and decreased renal function.Case report: A 17-year-old female patient was referred to our endocrine department for evaluation of hypothyroidism (TSH=150 mcIU/ml, FT3=0 pg/ml, FT4<0.1 ng/dl) presenting severe fatigability and myalgia. From her medical history we mention that she was diagnosed with thrombocytopenia 1 year ago (85.000/mm...

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...

Background: GH has several effects on lipid and glucose homeostasis. In adults GH deficiency (GHD) has been associated to increased mortality for cardiovascular disease (CVD). In childhood few studies have investigated the effect of GHD and recombinant human GH (rhGH) therapy on metabolic parameters that may increase the risk of CVD.Objective and hypotheses: To assess changes of lipid profile, insulin-resistance indexes, and CVD risk in children and adol...

Background: Vitamin D is now recognised as a prohormone, essential for the maintenance of mineral homeostasis, calcium metabolism and normal skeletal architecture. 30 ng/ml or greater can be considered sufficient serum levels. The prevalence of vitamin D deficiency among severely obese children is almost 49% caused by the fact that it is sequestered in the larger body pool of fat of such individuals, being vitamin D fat soluble. Vitamin D deficiency has been recently associate...

Background: Terminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26 mon...

Background: Birth weight (BW) is associated with the development of obesity, insulin resistance and type-2 diabetes in adulthood. The results of studies on the correlation between BW and the severity of obesity and cardiovascular risk factors (CVRF) among obese children are contradictory. The objective of our study was to evaluate the association between birth weight and the presence of CVRF in genetically homogeneous group of obese children and adolescents.</...

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal...

Introduction: The beginning of the COVID-19 pandemic encouraged a sedentary lifestyle and “covibesity” was reported. Concerns for consequences on anthropometric data, glycemic control, and lipid profile in subjects with type 1 diabetes (T1D) were raised.Objectives: Longitudinal and observational study aimed to investigate the 2-years effects of the COVID-19 pandemic on BMI, glycemic control, and lipid profile...

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...