ESPE Abstracts

Cystic fibrosis related diabetes (CFRD) is one of the main complications of cystic fibrosis (CF), following inflammatory-degenerative damage of the pancreas. Aim of our study was to evaluate the effects of replacement insulin therapy in patients with cystic fibrosis complicated by overt diabetes or pre-diabetes on BMI and respiratory function. We selected a sample of 17 insulin treated patients (Group T) and a sample of 17 controls with CF but normal glucose metabolism (Group ...

Background: It had never been investigated to now whether the course of thyroid function in Hashimoto’s thyroiditis (HT) may differ in the children who had presented with either euthyroidism or subclinical hypothyroidism (SH).Objective and hypotheses: To establish, by means of a 5-year prospective evaluation of 234 children with HT and no prognostic risk factors, whether thyroid status evolution over time may be conditioned by the biochemical patter...

Background: During the last years, it has been sporadically reported that Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) may follow one another in the same individuals, due to a sequential phenotypic conversion from GD to HT or vice versa.Objective and hypotheses: To shed further light on the specific relationships between Down syndrome (DS) and metamorphic thyroid autoimmunity.Method: We have reconstructed the con...

Introduction: Endocan is a soluble dermatan sulfate PG (50kDa), composed by 165 amino acid core protein, that is expressed and secreted by endothelial cells of dermal microvasculature, coronary, pulmonary arteries, and capillaries from adipose tissue. It plays an important role in the pathogenesis of vascular disorders, inflammation, and neoangiogenesis. Endocan biosynthesis is upregulated by inflammatory cytokines like TNF-α,IL-1, TGF-β1, and by pro...

Background: The social consequences of COVID-19 pandemic are universally known. In particular, the pediatric population is dealing with a radical lifestyle change. For some risk categories, such as overweight and obese children, the impact of home confinement has been greater than for others. Not only have the increased sedentary life, the wrong diet and social distancing stopped the chance of losing weight, but also worsened the general life conditions.<p...

Background: “Carney complex” is an autosomal dominant inheritance extremely rare genetic syndrome, usually determined by PRKAR1A (17q22-24) gene mutations. The clinical picture is characterized by speckled skin pigmentation; cardiac, cutaneous and mammary myxomas; schwannomas; endocrinopathies (acromegaly, Cushing syndrome due to primary pigmented nodular adrenocortical disease) and tumors of the endocrine glands.Case...

Introduction: Familial male-limited precocious puberty (or testotoxicosis) is a very rare genetic disorder with autosomal dominant transmission that causes gonadotropin-independent precocious puberty due to mutations activating the lutropin-chorionic gonadotropin receptor (LHCGR), which lead to elevated testosterone levels and suppressed gonadotropins. The age of onset is between 2-5 years essentially with penis and testes enlargement, linear growth accelerati...

Background: The patatin like phospholipase containing domain 3 (PNPLA3) I148M polymorphism has an effect on modulation of estimated glomerular filtration rate (eGFR) in non-obese non-diabetic adults and in children with histologically confirmed Non-Alcoholic Fatty Liver Disease (NAFLD).Objectives: To explored the impact of PNPLA3 I148M polymorphism on eGFR in obese children with and without NAFLD.<p class="a...

Background: G6PD deficiency is conventionally affiliated with drug induced oxidative stress, but an association with diabetes mellitus is seldom reported. Hypertriglyceridemia from insulin deficiency can be the cause of severe pancreatitis complicating DKA in children.Case report: A 14-year-old Bulgarian boy, no significant past medical history, hospitalized in Pediatric Surgery Department for abdominal pain, hematemesis insorted during a cruise trip. Re...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED, OMIM240300) is a rare monogenic disease due to biallelic mutations in the Autoimmune Regulator (AIRE) gene. This encodes for a thymus-enriched transcription factor responsible for central immune tolerance. Classic diagnostic criteria are the presence of two of main symptoms of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Non-endocrine autoimmun...