ESPE Abstracts

Background: Automimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an extremely rare autoimmune condition caused by AIRE (autoimmune regulator) gene mutations and characterised by a classic triad of 1) chronic mucocutaneous candidiasis, 2) hypoparathyroidism and 3) adrenal insufficiency. APECED can involve any endocrine or non-endocrine organ. Consequently, clinicians need to be mindful of the great variability in presentation. Although ad...

Introduction: Physical examination remains the cornerstone of medical practice. However, its importance has been underestimated during COVID-19 pandemic because of concerns related to exposure risk and use of personal protective equipment. Solitary median maxillary central incisor (SMMCI) may be an isolated clinical trait or associated with other anomalies and endocrine pathologies including hypopituitarism, hypothyroidism, isolated growth hormone (GH) deficie...

Acrodysostosis (ACRDYS) (MIM 101800) is a rare autosomal dominant condition affecting skeletal growth and resulting in primary skeletal dysplasia. Two types of ACRDYS have been described and characterized by distinct references on OMIM database. ACRDYS is similar and often confused with PHP1A, but caused by mutations downstream of the genes involved in PHP1A. Most of the patients have de novo variants. Both types of ACRDYS present with similar skeletal abnormalities (dispropor...

Background: Cytosine-guanine(CpGs) sites in molecules identified as methylated or unmethylated; the combination of them in the genetic sequence of an individual includes a methylation haplotype (methyl-haplotype) for a specific locus. The insulin gene promoter(IGP) is highly regulated by methylation mechanisms, which lead to alteration of gene expression.Aim: To identify IGPmethyl-haplotypes among children/adolescents wi...

Normocalcemic primary hyperparathyroidism (NPHPT) has been recognized as a variant of primary hyperparathyroidism (PHPT) and it is characterized by elevated PTH with persistently normal concentrations of albumin-adjusted total and ionized calcium. It is related to increased risk in development of osteopenia/osteoporosis as well of parathyroid adenoma and hypercalcemia/hypercalciuria. In order to identify biochemical disorders of PTH in normocalcemic children we performed in al...

Introduction: Obesity and the metabolic syndrome (MetS) are linked to increased risk for endothelial dysfunction which is considered as the first step in the progression of cardiovascular disease. Fibroblast growth factor 21 (FGF21) is a protein with known effects on various metabolic pathways. In adults, the circulating blood levels of FGF21 have been associated with parameters of lipid/carbohydrate metabolism, and FGF21 is known to be increased in obesity. T...

Background: Chemerin, a protein mainly synthesized in the adipose tissue and liver, belongs to the adipokines family and is implicated in signaling for adipocyte differentiation and lipolysis. From this point of view, chemerin can exert an important role in the regulation of various pathophysiological functions, including lipogenesis and metabolism.Objective: The aim of this study was to investigate the relationship betw...

Introduction: A positive correlation between the onset of T1DM and winter has been suggested by studies conducted in different countries.Objective: To investigate the seasonal variation of T1DM diagnosis and additional epidemiological parameters in children from Western Greece diagnosed with T1DM.Methods: 105 patients, 44 males and 61 females, aged 1 to 16 years (mean: 8.2±4 y...

Background: The Spexin gene is considered the most dysregulated in obese human fat with an almost complete absence of expression in obese human fat in comparison with non-obese fat tissues. Limited data from human and animal studies suggest that the novel peptide spexin may potentially impact food intake, weight regulation and body adiposity.Objective: The aim of this study was to compare serum spexin concentrations betw...

Patients: A 2-year old girl was referred due to glucosuria 1874 mg/dl. Fasting blood sugar was 71 mg/dl and HbA1c 4.8%. Examination of her growth charts revealed mild failure to thrive, since 15 months of age, as far as weight gain and height velocity. We used Flash technology (FreeStyle Libre) to identify hypoglycemic episodes. In 9 days, 8% of the time was < 70 mg/dl, with 11 hypoglycemic events: mean duration 94 min, lowest 52 mg/dl.<p class...