ESPE Abstracts

Introduction: The calcium-sensing receptor (CaSR) detects calcium levels and regulates parathyroid hormone (PTH) secretion to maintain serum calcium within normal ranges. Inactivating mutations in the CASR gene cause hyperparathyroidism and hypercalcemia. Heterozygous mutations lead to familial hypocalciuric hypercalcemia (FHH), homozygous mutations cause neonatal severe hyperparathyroidism (NSHPT). Cinacalcet is an allosteric modulator of CaSR. This ...

Background/Aim: Congenital hyperinsulinism (CHI) is a group of genetic disorders characterized by impaired insulin secretion, resulting in recurrent hypoglycaemia. Aim of this study is to investigate the proteomic profile in tear samples in children and adolescents with congenital hyperinsulinism who are treated and followed up at our Division. The tears’ proteomic profile will be correlated with the clinical presentation and laboratory data of the patie...

Introduction: The ongoing LIFE-MILCH project (www.lifemilch.eu) focuses on detecting EDCs in mothers, in BM and in urine, and in infants from birth up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, ano-genital distances, life-style and professional sources of exposure (questionnaires) to establish a risk assessment model to prepare safety guideli...

Screening for congenital adrenal hyperplasia through the measurement of 17-hydroxyprogesterone on the neonatal blood spot, aims to: prevent neonatal deaths; allow earlier identification and thereby decrease the severity of the initial salt-wasting episode; and to shorten the time during which a severely virilized genetic female newborn may be assigned the male sex. It is now practiced in most high-income countries, although the positive predictive value of the test is very low...

Сlinical case: Patient M., born at 35 weeks, the first of monochorionic twins with weight 3890 g (SDS 2.85), length 53 cm (SDS 2.71). From the first hours of life, the patient experienced hypoglycemia up to 1.9 mmol/l, which was relieved by intravenous glucose with a high utilization rate of up to 15 mg/kg/min. CHI was diagnosed at the age of 1 month (glycemia 2.1 mmol/l, insulin-15.2 µIU/ml). Diazoxide therapy was prescribed - 7.3 mg/kg/day. From th...

Introduction: Hypoglycemia can be caused by inherited metabolic disorders, such as glycogen storage disease (GSD) type 0a, which is mild form of the GSD. After diagnosis patient received appropriate treatment and care. Assessment 3 years after diagnosis may improve the treatment of key disorders in this disease and allow the identification of disorders occurring in long-term patients.Case report: 4 years old female patie...

Background: Type 1 Diabetes Mellitus(T1DM) is a chronic condition where beta cells of the pancreas are unable to make insulin secondary to their autoimmune T-cell mediated destruction. Patients with one autoimmune disease are prone to having others as well. There has been a link found between Type 1 Diabetes, thyroid function and coeliac disease.Objective and hypotheses: The aim of this study is to determine the prevalen...

Background: The current era is marked by significant advancements in genomic medicine, characterized by innovative technologies in both cytogenetics and molecular methods. As these technologies evolve, costs decrease, making genetic testing more accessible and feasible. This trend is particularly evident in the field of genetic endocrine disorders. Presently, chromosomal microarrays and next generation sequencing are the predominant methods utilized. In the ne...

Introduction: The EQ5D questionnaire is an openly available, validated, age-specific and generic measure of quality of life (QoL) which takes less than 5 minutes to complete. A higher dimension score and a lower visual analogue scale (VAS) is associated with worse QoL. Our aim was to use this tool to assess the QoL of patients with a wide range of paediatric endocrine conditions in the routine clinical setting.Methods: B...