ESPE Abstracts

Background and Aims: Optic pathway gliomas (OPGs) represent 2-5% of brain tumors in children. OPGs are classified by the anatomic location and whether they are associated with neurofibromatosis type 1 (NF1). Children with OPGs face sequelae related to tumor location and treatment modalities, including visual dysfunction, neurologic deficits, and endocrine dysfunction. The aim of our study was to assess the prevalence of endocrine dysfunctions in patients with ...

Children with ISS vary in their response to GHT. We conducted a post hoc analysis to identify clinical characteristics associated with very good or poor response during year 1 of GHT in a subset of 1550 GH naïve children with ISS from NordiNet® IOS (NCT00960128) and the ANSWER Program (NCT01009905). We included patients aged 3–11 years (males) or 3–10 years (females) at treatment start, prepubertal throughout year 1 of treatment, with height SDS...

Introduction: Differences in sex development (DSD) comprise a heterogeneous group of congenital conditions that affect human sex determination and differentiation. We aimed to describe the clinical diagnoses of children with DSD who were referred to a pediatric tertiary center, and to examine trends in clinical features and management over three decades.Methods: This is a retrospective, cross-sectional study of children ...

Background: GnRH-independent precocious puberty with elevated β-human chorionic gonadotropin (β-HCG) levels can be the presenting sign of secreting germ cell tumor (GCT) in boys. These tumors are very rare, but have a higher incidence rate in Klinefelter syndrome.Case presentation: Here we report a case of a 7.3 year-old boy presenting with precocious puberty. In his physical examination, his height was 143.0 c...

Background: CFRD is a unique subtype of diabetes mellitus, distinct from type 1 and type 2, harbouring β-cell dysfunction and β-cell loss and insulin resistance. Modulator therapies directly target the underlying defect of CF, modulating or correcting the function of the CFTR gene (mutation-specific). Few studies investigated the effect of modulators on CFRD and glucose metabolism. We performed an observational study on the short-term effects of the ...

Background: Over the last thirty years, the incidence of adolescent obesity has quadrupled. While the physical risks of adolescent obesity have been well researched, there has been little research on its impact on mental health status and cognitive abilities. In the present study, we intend to examine whether nutritional intervention and weight loss affect executive functions and levels of depression of adolescent girls with overweight/obesity (OW/OB).<p c...

Background: Childhood acute lymphoblastic leukemia (ALL) survivors are at increased risk for endocrine late effects.Objective and hypotheses: To evaluate growth and pubertal patterns in patients diagnosed with childhood ALL and to identify risk factors for impaired growth and puberty.Method: Retrospective chart review with longitudinal assessment of anthropometric measurements and pubertal status of 183 childhood ALL survivors diag...

Background: Spontaneous catch-up (CU) growth occurs when a growth-restricting factor is resolved. However, its efficiency is sometimes inadequate and growth deficits remain permanent. The therapeutic toolbox for short stature is currently very limited. Our previous studies using a nutrition-induced CU growth model showed that the level of sirtuin-1 (SIRT1) was significantly increased in food-restricted animals and decreased during CU growth.<p class="abste...

Background: The efficacy of growth hormone (GH) treatment in short, healthy children diagnosed with growth hormone deficiency (GHD) or those meeting the criteria of idiopathic short stature (ISS) suggest that an overlap exists between these two conditions. Although flawed and inconsistent, growth hormone stimulation tests (GHST) are the key diagnostic tool differentiating between GHD and ISS affecting clinical decisions such as treatment eligibility and dose.<...

Pro-opiomelanocortin (POMC) and the melanocortin-4-receptor (MC4R) are playing a key role within the leptin-melanocortin-pathway and thereby for satiety regulation. Mutations within these genes are leading to hyperphagia and early-onset obesity. However, observations of cardiac abnormalities including left ventricular dilatation and reduced contractibility in the MC4R knockout mouse model and reports about a reduced blood pressure in human MC4R variant carriers, led us to inve...