ESPE Abstracts

Background: Sertoli-Leydig Cell Tumors (SLCT) account only for 1% of all ovarian neoplasia, occur more commonly in the second or third decade of life and seldom secrete tumor markers. The experience in adolescence is limited.Objective and hypothesis: To report the hormonal and biological profile of a SCLT in a young adolescent. Ovarian tumor markers as well as FDG-PET scanning might be helpful in diagnosing ovarian malignancy in case of normal ultrasound...

Background: Current guidelines suggest to test obese subjects with impaired fasting glucose (IFG) by oral glucose tolerance test (OGTT) for the presence of type 2 diabetes. This strategy, however, misses most cases of impaired glucose tolerance (IGT).Objective and hypotheses: To investigate whether combining risk factors improves predictability of IGT in OGTT.Method: In this observational study of 145 overweight children, aged 2.5&...

Introduction: Ghrelin binds to its receptor GHSR1A, encoded by GHSR, on somatotrophs of the pituitary. Growth hormone (GH) secretion is enhanced by ghrelin binding as well as the receptor’s constitutive activity. Results from in vitro experiments, knock-out mice, and GWAS suggest that heterozygous loss-of-function of GHSR may be associated with short stature, but observations in case studies are equivocal. We aimed to better ch...

Introduction: Children with hypothalamic dysfunction, e.g. due to a genetic or acquired cause such as suprasellar tumours, often suffer from hyperphagia and/or decreased resting energy expenditure (REE). This process induces uncontrollable weight gain, resulting in severe hypothalamic obesity (HO). No effective treatment is available yet for HO. Amphetamines are psychostimulants that are known for their appetite reducing and REE stimulating side effects. Here,...

Background: Measurement of testicular volume is important when conditions associated with a delay or advance in the onset of puberty, or micro- and macroorchidism, are suspected. Measured testicular volumes must be compared with reference data, preferably expressed in S.D. curves using the LMS method, as is routinely done for many auxological measurements in pediatrics. The current study therefore aimed to construct LMS-smoothed age-reference charts for testicul...

Background: Paediatric obesity is a multifactorial disease characterized by an imbalance between energy intake and expenditure. In rare cases, obesity is caused by underlying medical disorders arising from disruptions in the leptin-melanocortin pathway, which regulates satiety and energy expenditure.Aim: To investigate resting energy expenditure (REE) in relation to body composition in children and adolescents with sever...

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

Management of type 1 diabetes in preschool children is a huge challenge for their caregivers. Age-specific factors (e.g. unpredictable food intake and physical activity, small insulin doses, high insulin sensitivity, frequent intercurrent infections, high variability in insulin requirements) increase the complexity of daily diabetes management. Furthermore, the preschool child depends completely on his/her caregiver. To meet recommended treatment targets while avoiding hypogly...

Introduction: Mutations in the thyroid hormone (TH) transporter MCT8 result in MCT8 deficiency, which is characterized by severe intellectual and motor disability and high serum T3 concentrations inducing thyrotoxicity in peripheral tissues. At present, no effective treatment is available, although preclinical studies suggest that the T3 analog Triac is a promising candidate to i) normalize serum T3 levels and thus alleviate the thyrotoxicosis and ii) restore TH signaling in t...

Background: Secondary forms of diabetes mellitus (DM) are underdiagnosed in children and adolescents with cancer because despite the whole body of evidence that asparaginase, steroids and total body irradiation increase the risk of developing DM, risk factors are missing and – asides from treatments – understudied (e.g., pre-existing obesity, sex, age, ethnicity, family history of DM). The objectives of our study were to assess the incidence and asso...