ESPE Abstracts

Background/Objective: Micro-and macrovascular changes are the cause for diabetes complications. Retinal vessel analysis is a unique method to examine microvascular changes in brain derived vessels.Subjects/Methods: Sixty-seven pediatric and adolescent type 1 diabetes patients and 58 healthy control persons underwent nonmydriatic retinal photography of both eyes. Arterioles and venules positioned in the region 0.5 to 1 diameter of the optic disc measured ...

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is worldwide the most common autosomal recessive disorder caused by defects in the CYP21A2 gene.Objective: The main objective of the study was to evaluate CAH in Cyprus over a 10 year period.Methods: All known patients were included in a population retrospective subset analysis of Cypriot patients with confirmed CAH and their clinica...

Introduction: Lack of impulse control and impaired stress regulation may explain the development of obesity and its challenging therapy, already in youth. To improve self-regulation of overweight adolescents and subsequently their weight status, we tested, whether a biofeedback relaxation exercise decreases stress and whether relaxation services implemented in a novel Smartphone App supported intervention have effects on stress and weight outcomes.Method...

Background: FOXE1 gene variants containing alterations in the alanine tract length may confer susceptibility to primary ovarian insufficiency (POI). BMP15 gene variants have also been related to POI.Objective and hypotheses: To evaluate the contribution of FOXE1 and BMP15 variants in the pathogenesis of POI and to investigate the hypothesis of digenic inheritance in this disorder.Method: FOXE1 and BMP...

Introduction: Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) have specific plasma and urinary steroid patterns, with 11-oxygenatedC19 steroids established as key adrenal-specific androgens. Monitoring glucocorticoid (GC) replacement remains a challenge in the absence of reliable biomarkers.Aim: To reassess the urinary steroid profile of children with CAH in relation to plasma ...

Introduction&Aim: Activation of mechanistic target of rapamycin (mTOR) as a major regulator of adipogenesis and lipid accumulation is controlled by upstream regulators hamartin/tuberous sclerosis complex (TSC) 1 and tuberin/TSC2. Hamartin and tuberin form a protein complex that inhibits signal transduction to mTOR. The impact of TSC1 deficiency is not clearly defined in human adipose tissue. We identified a likely pathogenic TSC1 splicing variant in a lipo...

Background: Growth Hormone Insensitivity (GHI) is characterised by short stature and functional IGF-I deficiency associated with normal/elevated GH levels. Marked genetic and phenotypic heterogeneity exist, and heritable defects in GH-IGF-I axis genes/associated pathways account for mild-moderate to severe GHI cases. We report twin brothers from a non-consanguineous kindred who present with short stature and bi-allelic mutations in QSOX2 encoding the nuclear m...

Background: Throughout 2020 telemedicine was rapidly deployed across health services and, during the COVID-19 pandemic, replaced many face-to-face (FTF) medical consultations. Children and young people (CYP) with diabetes present a unique opportunity for this type of consultation, due to the ability to interpret and share glucose data via other platforms. This study describes both CYP and parent experience of a new telemedicine service for CYP with diabetes.</...

Background: The relation between thyroid function and treatment with recombinant human GH (rhGH) has been the subject of many studies which indicate a decrease of fT4 levels and a compensatory TSH increase at rhGH therapy onset. On the other hand, we have identified a number of patients with documented primary hypothyroidism (either on treatment with L-thyroxine or not) before the onset of rhGH treatment.Objective and hypotheses...

Introduction: Glucocorticoid treatment remains a challenging aspect in the management of congenital adrenal hyperplasia (CAH). Current strategies for monitoring treatment are suboptimal and rely largely on frequent blood tests, which are traumatising in children and young persons (CYP). Recent evidence indicates a crucial role of 11-oxygenatedC19 androgens in the pathogenesis of CAH.Aim: To explore the use of 11-oxygenat...