ESPE Abstracts

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....

Background: Daily r-hGH injection has been safely and effectively used in paediatric patients with GHD for more than 30 years. However, little information is available describing the burden and life impacts experienced by paediatric patients related to daily r-hGH injections.Objective: To identify the burden and impacts of a daily r-hGH injection regimen on the lives of paediatric GHD patients.Methods: A retrospective meta-analysis...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is caused by mutations in the CYP21A2 gene. Steroid 21-hydroxylase deficiency results in impaired synthesis of mineralcorticoids and glucocorticoids (GC), plus androgen excess. Hormonal imbalances in 21OHD are postulated to result in systemic transcriptomic and metabolomic alterations. Such perturbations are likely to be underlying co-morbidities, which are increasingly observed in individua...

Background: Growth in height during puberty can be described by the QEPS-model as a combination of continuous basal growth, QES, and a specific pubertal growth function, P.Objective and hypotheses: To study the relationship between childhood BMISDS and the prepubertal gain and pubertal gain related to growth functions from the QEPS-model.Method: The longitudinally followed GrowUpGothenburg 1990 birth co...

Background, objective and hypotheses: By using QEPS, a new mathematic growth model, different components of growth can be analyzed, comparing secular trends of prepubertal and pubertal growth in Swedish birth cohorts born 1974 and 1990.Materials and methods: Two birth cohorts followed to adult height (AH) born around 1974 (1691 boys; 1666 girls) and 1990 (1647 boys; 1501 girls) being healthy, Nordic and born term. A subpopulation of 1974 (1177 boys; 1168...

Background and aims: Little is known about the incidence and clinical consequences of hyperthyroidism in paediatric patients with type 1 diabetes mellitus (T1DM).Methods: We analysed the DPV database to investigate the rate of hyperthyroidism in paediatric T1DM patients, its impact on metabolic control, and potential associations with other autoimmune diseases.Results: Hyperthyroidism was found in 276/60,456 patients (0.46%) and wa...

Background: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures and osteoporosis. Body composition in TS is characterised by increased body fat (FM) and decreased lean body mass (LBM), even with a normal BMI. Oestrogen replacement therapy for attaining and preserving normal bone mass is necessary in most TS girls. There is a potential role of age-specific estrogen doses, with lower doses used in the early puberty and higher do...

Background: A variable prevalence of scoliosis has been reported in Prader–Willi syndrome (PWS). Clinical detection can be challenging. The role of GH therapy (GHT) in the onset and progression of scoliosis remains controversial as does the modality of screening.Objective and hypotheses: To define the prevalence of scoliosis in our PWS patients and analyse the role of age, gender, genotype, BMI, and GHT on its onset and severity.<p class="abstex...

Background: Weight in childhood may influence the pubertal timing and pattern of growth.Objective: To investigate the impact of BMI in childhood on further growth, especially the specific pubertal pattern of growth.Method: The longitudinally followed GrowUpGothenburg1990 birth cohort, was analyzed using the QEPS growth model (Nierop et al. Horm Res in Ped. 2013; 80(suppl 1):152–153) (describi...

Objectives: GH deficiency (GHD) and small for gestational age (SGA) status are associated with cardiovascular risks. We therefore investigated antiatherogenic effects of GH.Methods: Subfractions of LDL and HDL, lipoprotein-associated phospholipase A2 (Lp-PLA2), and high-sensitivity C-reactive protein (hsCRP) were measured at baseline, after 8 and 52 weeks of GH treatment in 51 short children born SGA (n=33) or with GHD (n=18).<p cla...