ESPE Abstracts

Background: Children with neurofibromatosis type 1 (NF1) have an increased risk of developing optic pathway gliomas (OPGs) during childhood. Although these tumors usually have a benign course, some cases result in significant clinical symptoms, including endocrinological disorders.Objective and hypotheses: The aim of this study is to evaluate the endocrinological complications of OPGs involving the chiasm in children with NF1.Metho...

Introduction: The diagnosis of a disorder/difference of sexual development (dsd) is an exceptional psychosocial situation. As the diagnosis is often made in childhood, the parents are the primary communication partners. In some cases, the impossibility of immediate sex determination of the child can be a traumatic experience with a negative impact on the relationship between the parents and the child, the couple and members of the entire family. It has been recommended by the ...

Background and Purpose: Previous studies have shown differences in serum, plasma, or saliva proteomics profile in patients with type 1 diabetes mellitus (T1DM), compared with healthy controls. The purpose of this prospective study is to identify the tear proteomics profile in children with T1DM that are followed at the Diabetes Center of the First Department of Pediatrics of the National and Kapodistrian University of Athens, at “Aghia Sophia” Chil...

Mosaic variegated aneuploidy (MVA) syndrome represents a rare autosomal recessive disease characterized by aneuploidies with gain and loss of multiple chromosomes. We describe case of two Moroccan brothers with MVA2, due to CEP57 mutations. Patients are 17 and 13-year-old male siblings of a Moroccan healthy consanguineous couple. Oldest brother was delivered at 35 gestational weeks after IGR diagnosis, small for gestational age (SGA, 1300 grams, -3 SDS). Younger patient’...

Six-year-old female, diagnosed with GH deficiency at another Center (H: -3.13SDS; H peak with clonidine 5.7ng/mL, with insulin 1.2ng/mL). Brain MRI at diagnosis: small pituitary gland, ectopic neurohypophysis, normal stalk, right internal carotid artery aplasia. At 10 years onset of polyuria-polydipsia syndrome (PPS) (4L/day–154ml/kg/die); mood disorders and ADHD diagnosis were also reported. A fluid deprivation test was performed, lasting 22 hours (pre: S-Osm 275mOsm/L,...

Introduction: The aim of the project “DSDCare” is to implement standardized care for people with DSD following national and international guidelines and to evaluate structural, process and outcome quality of care at 10 specialized centres in Germany from May 2020 till June 2023. Transition from paediatric to adult care is a crucial phase in chronic and rare conditions. In DSD, “loss to follow-up” is usually not associated with acute com...

Although craniopharyngiomas are low-grade tumours, long-term survivors frequently suffer from severe morbidity due to hypothalamic lesions, such as hypothalamic obesity, that is largely resistant to lifestyle modification and pharmacotherapy. We investigated the efficacy of bariatric surgery in two patients with craniopharyngioma-related hypothalamic obesity during 18 months of follow-up. Patient n1, diagnosed with craniopharyngioma and treated with complete surgical excision ...

A 5-years-old boy was admitted because of polydipsia and polyuria. His family history was unremarkable. After water deprivation test (10h), laboratory test showed high levels of serum sodium (150.1 mmol/L), low urine osmolarity (88 mOsm/kg) and high serum osmolarity (301 mOsm/kg) consistent with the diagnosis of central diabetes insipidus (CDI). He started therapy with oral desmopressin with clinical improvement. Brain MRI revealed pituitary stalk thickening (3 mm), no hyperin...

Purpose: Artificial intelligence (AI) is increasingly used for medical imaging procedures, including automated bone age (BA) evaluation. We aimed to evaluate the agreement between two different BA methods, the IB lab PANDA® and BoneXpert® artificial intelligence methods vs. the manual reference rating in children for BA determination, and to compare the IB lab PANDA performance to the BoneXpert method.<stron...

Introduction: Both the detrimental effects on health produced by obesity, and the burden provoked on healthcare systems clearly dictate the need to provide nutritional interventions for preventing and managing obesity during childhood. Furthermore, the lifestyle habits developed in early childhood have a long lasting effect on cardiovascular and metabolic health, highlighting the importance of prevention. PODiaCar project is dedicated to enhancing the efforts ...