ESPE Abstracts

Introduction: The prevalence of pediatric type 2 diabetes (T2D) increased over the last 2 decades, related to the rise in obesity. Meanwhile, treatment options for T2D have evolved considerably. Therefore, we analyzed changes in treatment approaches for pediatric T2D over two decades.Material and Methods: Patients with T2D from 321 pediatric diabetes centers (Austria 24, Switzerland 2, Luxemburg 1, Germany 290) were reco...

Introduction: Pubertal onset is signaled by thelarche (in girls) and gonadarche (in boys) and indicates the beginning of the hypothalamic-pituitary-gonadal axis activity. Thus, the onset of pubic hair development usually coincides with adrenarche. Girls worldwide are experiencing earlier puberty, but it is uncertain if this trend affects boys, or if it applies to children with type 1 diabetes (T1D).Aim: The aim of this s...

Introduction: The soluble leptin receptor (sLR) is the main binding protein of leptin in the serum. It reflects the amount of membrane-bound leptin receptors (LEPR) as the sLR is produced by proteolytic cleavage of the extracellular domain of membrane-bound LEPR. Low sLR but high leptin levels were measured in patients with severe obesity. In patients with monogenic obesity caused by biallelic LEPR variants, sLR levels were found to be either undetect...

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

Background: Clinical outcome data of patients with adrenal insufficiency, who were affected by COVID-19, have been collected as a common initiative by the ESE Rare Disease Committee and ENDO-ERN via the European Registries for Rare Endocrine Conditions (EuRRECa) project. Methods: This Webropol-based questionnaire included a total of 32 questions collecting quantitative and qualitative data. Of the 19 medical centres out ...

Introduction: Monogenic defects in the leptin-melanocortin pathway result in hyperphagia and severe, early-onset obesity. Knowledge of the natural history of anthropometric parameters in patients with monogenic obesity is essential for diagnosis. However, reliable data on early childhood weight and height development in affected patients are lacking. This study aimed to evaluate the history of height, weight, and BMI development in early childhood in a Europea...

Background: Transient neonatal diabetes (TNDM) is commonly caused by a methylation loss in the 6q24 region, either in isolation or as multiple-loci demethylation due to ZFP57 gene mutation. TNDM is biphasic; usually resolves after 2–3 months but often recurs between age 4 and late adolescence.Case: The boy was born at 38 weeks of gestation (birth weight 3340 g, healthy consanguineous Turkish parents, unremarkable pregnancy). He presented at...

Background: Pituicytoma is a very low-grade glioma that originate in the neurohypophisis and infundibulum.Objective and hypotheses: Describe diagnosis and treatment of associated pituicytoma and ACTH-secreting adenoma in a 6-year-old girl.Method: Case report and literature review.Results: We report the case of a 6-year-old presented with growth failure and associated weight gain, premature pubarche, and hyper...

Background: Newborn screening for congenital adrenal hyperplasia (CAH) is based on the determination of 17-hydroxyprogesterone (17OHP) on blood and its need is confirmed by the most recent guidelines on the subject. In Italy this screening is not mandatory, and its application is on a regional basis. Among its disadvantages, it is well known the high frequency of false-positives, in particular in premature babies and those born small for gestational age. Howev...

Craniopharyngioma is a rare, embryonic malformation of the sellar/parasellar region with low histological grade. In childhood-onset craniopharyngioma (CoCR), endocrine dysfunctions, severe obesity and metabolic syndrome (MetS), neurological impairment and reduced quality of life have been described as consequences of both localization and treatment. To characterize a population with CoCR and to correlate endocrine/metabolic sequelae with different surgery approach we performed...