ESPE Abstracts

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...

Background: Alterations in DNA methylation status of specific genetic loci may affect gene expression, thus leading to autoimmunopathies.Objective and hypotheses: This study aimed to investigate possible differences in DNA methylation pattern between type 1 diabetes mellitus (T1DM) youngsters and healthy controls.Method: Ten T1DM participants and 10 age-/gender-matched controls were enrolled. DNA was extracted from white blood cell...

Background: Cataract as a chronic complication of diabetes is well established in the literature and the risk factors are also well known. However, rare cases of acute bilateral cataract have been reported, all of them happening relatively shortly after diagnosis in T1DM. While the pathophysiology of this phenomenon remains unclear – as a lot of different theories proposed so far with the most accepted being the osmotic stress induced oxidative damage – fail to expla...

Background: Turner syndrome (TS) arises from a complete or partial loss of one X chromosome (45,X) and is the most common genetic cause of primary ovarian insufficiency (POI) in women. Surprisingly little is understood about the pathogenesis of POI in TS beyond an acknowledged germ cell loss throughout the second trimester. Although X chromosome haploinsufficiency likely contributes, the variability in reproductive phenotype in 45,X TS suggests it is not the o...

Introduction: Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare autosomal recessive hereditary disorder resulting from a mutation in the AIRE gene. APS-1 is characterized by three classic clinical features: hypoparathyroidism, Addison’s disease and chronic mucocutaneous candidiasis. Additionally to the classic triad, the phenotype of APS-1 includes several endocrine and non-endocrine autoimmune manifestations. Purpose:Topresent a rapid onset and progression of ch...

Background: The parallel increase in prevalence of asthma and obesity in childhood has led to an increasing body of evidence about a possible link between the two conditions.Objective and hypotheses: To assess the prevalence of asthma symptoms in a representative sample of Greek schoolchildren and to evaluate its association with overweight/obesity as well as other socioeconomic, demographic and lifestyle factors.Method: This is a ...

Introduction: Pubertal suppression with gonadotrophin releasing hormone (GnRH) analogue is introduced after the onset of puberty in adolescents with gender dysphoria (GD). As puberty is a critical period for bone accrual and changes in body composition, alterations in body composition and bone mass may be observed during treatment.Methods: Thirty-eight adolescents (32/38 assigned females at birth) with GD had dual energy...

Objectives: Celiac disease (CD) is a life-long inflammatory disease of the gastrointestinal tract that affects genetically susceptible individuals and is associated with several autoimmune diseases. The aim of the study was to evaluate the prevalence of coexistent autoimmune endocrine disorders in children and adolescents diagnosed with CD.Patients and Methods: Children diagnosed with CD in the Paediatric Gastroenterolog...

Background: Kisspeptin (encoded by the KISS1 gene in humans), originally described as a puberty onset regulating neuropeptide, is involved in many homeostatic systems, including nutrition status, glucose homeostasis, locomotor activity, etc. Thus, in today’s obesity epidemic, kisspeptin is gaining increasing interest as a research target.Aim: To construct an updated interactome of genetic determinants of obesity, including the kisspeptin si...

Background: Spexin is a novel hormone that may potentially impact food intake, weight regulation and body adiposity. Circulating spexin has been associated with obesity and insulin resistance indices in women.Objective: The aim of this study was to determine serum spexin concentrations in adolescent females with metabolic syndrome, with polycystic ovary syndrome (PCOS), with anorexia nervosa as well as in healthy controls, and explore possible relationsh...