ESPE Abstracts

Anorexia nervosa (AN) manifests in the restriction of energy intake relative to energy output. Atypical AN includes those who meet the criteria for AN but are not underweight. Hypothalamic amenorrhea can be a presenting symptom in AN, and the return of menses is part of recovery. It can take more than a year for menses to return after weight restoration and nutritional rehabilitation. Hypercortisolemia is common in AN, but usually does not cause cushingoid symptoms We describe...

Background: In the light of emerging recent researches and the use of continuous glucose monitoring it was shown that other nutritional properties of food, including fat, protein, and glycemic index (GI), can significantly affect postprandial glucose excursions. These findings highlight the need for alternative mealtime insulin dosing algorithms and have important implications for nutrition education and counseling in patients with diabetes.Objective and...

Introduction: An association between the ketogenic diet (KD) and hypercalcaemia has been suggested in one case series of three children1, where hypercalcaemia occurred within 12 months of starting KD. We describe a case where severe hypercalcaemia occurs after four years on KD.Case: A 5.5-year-old boy is referred for hypercalcaemia in context of early sepsis and a background of Dynamin-1 gene mutation causing ...

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide but rare in developed countries. Incidence of iodine deficiency may be rising due to increased popularity of vegan diets. There is minimal information on official health promotional webpages alerting to this risk.Case presentation: We present a 2.5yr old boy and his 6yr old sister from a family who adhere to a strict vegan diet and additional dietary restriction i...

Background: Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycaemia and is due to the unregulated secretion of insulin from the pancreatic β-cells. The role of glucagon like peptide-1, gastric inhibitory polypeptide (GLP1/GIP), and dipeptidyl peptidase-4 (DPP4), is currently unknown in patients with CHI.Objective and Hypotheses: To understand the expression pattern of DPP4 in focal and diffuse disease CHI.<p class="ab...

Background: Patients who present with clinical and laboratory findings of pituitary dysfunction and whose MRI findings reveal increased pituitary size or thickening of pituitary stalk, pose a diagnostic challenge. The differential diagnosis mainly includes dysgerminoma, histiocytosis, and hypophysitis. A non-invasive approach is often non-diagnostic.Objective and hypotheses: To present two patients with similar clinical picture and positive MRI findings,...

Background: Obesity in childhood and adolescence represents a major health problem and its management requires a multidisciplinary approach.Objective and hypotheses: To assess the main eating habits of children and adolescents attending an Out-patient Clinic for the Prevention and Management of Overweight and Obesity in Greece, as recorded before implementing any intervention.Method: We studied 1005 children and adolescents [age ra...

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...

Introduction: Growth velocity is reduced in patients with GH deficiency and this may result in an increase in Body Mass Index (BMI). Treatment performed with Growth Hormone (GH) while accelerating growth velocity, might reduce BMI. The objective of this study was to evaluate BMI in patients with GHD at diagnosis, 1 y and 2 y after started treatment with GH and to compare if there is difference between the BMI of the patients with and without pituitary abnormalities.<p clas...

Background: Bone marrow transplantation (BMTx) involves pre-conditioning regimens that compromise fertility Delayed puberty and hypogonadism are common in children with beta thalassemia major, due to chronic disease and transfusion requirements, due to iron overload in endocrine glands.Objective and hypotheses: Pubertal induction using hCG and FSH prior to gonadotoxic conditioning before BMTx should result in spermatogenesis sufficient to store sperm. We...