ESPE Abstracts

Background: Non-alcoholic Fatty Liver Disease (NAFLD) is a frequent complication of obesity in both adults and children and there is an alarming increase in prevalence of both. Studying of risk factors for NAFLD in children and adolescents might help to select vulnerable groups to start an early intervention.Objectives: The aim of our study was to detect the prevalence of NAFLD in pediatric obese patients (0-18.9 years, ...

Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-secreted hormone that regulates phosphorus homeostasis, result in renal phosphate wasting leading to rickets or osteomalacia. Patterns leading to FGF23 excess are still unknown. Recently, FGF23 elevated rickets has been associated with epidermal nevus syndrome, designating the cutaneous skeletal hypophosphatemia syndrome (CSHS). The clinical picture is not completely defined as, to date, only a...

Background: Public health research shows that the prevalence of obesity is increasing rapidly not only among adults, but especially among adolescents and children. Obese children and adolescents are at risk of early chronic complications such as cardiovascular diseases, non-alcoholic fatty liver disease (NAFLD), type 2 diabetes mellitus, various types of tumors, orthopedic problems, serious psychological and neurological problems.<strong...

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...

Background: Germline mutations in SDHB gene are associated with the familial paraganglioma (PGL) syndrome that carries the highest malignant potential. Although penetrance is lower than initially described, lack of effective treatments for metastatic PGLs makes screening essential for early tumour detection, surgical removal and improved outcome. However, no consensus exists in relation to timing and mode of screening.Objective: To assess publis...

Background: The majority of Turner syndrome (TS) girls need exogenous estrogen treatment to induce normal uterine growth. The optimal estrogen treatment protocol has not been determined.Objective and hypotheses: To compare the effect of two different dosing regimens of oral 17β-estradiol on uterine size with the hypotheses that most girls with TS would benefit from a higher dose.Method: A double-blind 5-year randomized control...

Introduction: Most patients with Prader-Willi syndrome (PWS) have a mild to moderate cognitive impairment. Growth hormone (GH) treatment has positive short- and long-term effects on cognition in children with PWS. Few studies, however, have investigated the effects of GH on cognitive functioning in adults with PWS.Objective: To investigate the effects of 3 years GH treatment on cognitive functioning in young adults with ...

Background: The incidence of Type 1 diabetes (T1D) is rising globally and fractures are common.Objective: To investigate bone health in young females with a T1D duration of at least 10 years in relation to healthy, matched controls.Subjects: Twenty-three Swedish females, aged 19.2– 27.9 years, with a T1D duration of ≥10 years, were recruited from the Swedish National Dia...

Background: Childhood cancer survivors (CSS) are at risk for several late effects, among them increased risk of metabolic syndrome (MetS). We wanted to study if female hypogonadism was a risk factor for MetS.Method: This study included 167 female CCS, mean age 34.3 (19.3-57.8) years in the South region of Sweden and 164 matched controls, mean age 35.0 (19.3–58.0). The female CCS were diagnosed at mean age 8.9 (0.1-1...

Background: Turner syndrome (TS) is caused by a total or partial loss of one X chromosome. Typical features include short stature and primary amenorrhoea. In addition, decreasing trabecular bone mineral density (BMD) and increasing cortical BMD during puberty has been reported at the radius. As chromosomal aberration remains a probable cause of bone changes in TS, we aimed to elucidate whether the karyotype differs among the tissues originating from the three ...