ESPE Abstracts

Introduction: Hypoglycemia is a significant cause of morbidity in children, yet is challenging to diagnose and treat due to its heterogeneity.Aim: To describe the diagnoses and clinical characteristics of children with hypoglycemia referred to a tertiary pediatric center.Methods: This retrospective study included 155 children (86 males, aged 0-18 years) diagnosed with hypoglycemia ...

Introduction: Wolman Disease [WD] is a rare, autosomal recessive disease caused by lysosomal acid lipase deficiency and characterized by accumulation of cholesterol-esters and triglycerides primarily in the liver and spleen. Patients present within the first year of life with a rapidly progressive disease.Case: A girl born to consanguineous parents was diagnosed with WD due to characteristic manifestations and family history (genetically confirmed). At t...

Background: The definitive diagnosis of childhood GH deficiency (GHD) depends on the demonstration of failure to respond to two stimuli. In our center children are allocated to either glucagon-first or clonidine-first according to the preference of the pediatric endocrinologist following the patient. The nursing staff prefer glucagon-first due to patient safety (less pronounced adverse events and faster recovery time). Few studies have addressed which GH stimulation test shoul...

Background: A basal 17-hydroxyprogesterone (17-OHP) plasma level of 6.0 nmol/l was suggested as a threshold for the diagnosis of non-classical congenital adrenal hyperplasia (NCCAH), particularly in children presenting with precocious pubarche (PP).Objective: The present study aimed to determine if this threshold could lead to underdiagnosis of NCCAH.Method: In a retrospective study the cohort of pediatric patients (n=145,...

Background: Achieving proper glycemic control is the major goal in the management of type 1 diabetes. The Diabetes Control and Complication Trial showed that optimal glycemic control can decrease micro- and macrovascular complications in adolescents and adults with type 1 diabetes. Both hypo and hyperglycemia affect crucial regions in the developing brain. In children and young adolescents, most of the work towards achieving optimal glycemic control is led by ...

Background: Hypoglycemia etiology in children is heterogeneous and varies by age. Both growth hormone (GH) and cortisol deficiencies may present with hypoglycemia; the latter may result in an adrenal crisis that may be fatal.Objectives: To evaluate responses of cortisol and GH to spontaneous hypoglycemia in infants and children, and to assess the rate of true cortisol deficiency in children, defined as cortisol<500 nm...

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved by the EMA as a once weekly treatment for children with GH deficiency (GHD). The peak stimulated GH cut-off value for diagnostic criteria for GHD varies according to country-specific guidelines. The objective of this subgroup analysis of the pivotal phase 3 somatrogon study was to evaluate the primary and secondary efficacy endpoints for subjects with a peak GH value <6.7...

Background: The rapid advancement in understanding molecular mechanisms, and the availability of genetic testing, has led to a paradigm change in many endocrine disorders. Making an accurate diagnosis enables tailored follow-up, treatment, and family genetic counselling. However, a cooperation is required, since the endocrinologist has a more profound understanding of the disorders, but the geneticist is usually better skilled in analyzing genetic results and ...

Background: Type 1 Diabetes (T1D) is a chronic disease resulting from autoimmune destruction of insulin-secreting pancreatic β cells. Viruses are known to play a role in the pathogenesis of T1D. There is no consistent evidence that SARS-CoV-2 induces T1D in children or adults. Nevertheless, evidence suggests that the SARS-CoV-2 affects β cell function, suggesting a role for the virus in the pathogenesis of the disease. It is thus plausible that the e...

Background: Data on the course of puberty and pubertal growth in boys with Type 1 diabetes (T1D) are sparse.Objectives: To study the course of puberty, pubertal growth and final height in boys with T1D as well as possible factors affecting these.Methods: In this retrospective longitudinal study, 68 boys diagnosed with T1D between 1996-2009 who were pre-pubertal at diagnosis and had...