ESPE Abstracts

Background: Adherence to GH treatment is a challenge.Objective and hypotheses: We analysed the impact of treatment duration, treatment success, treatment indication, age, gender, pubertal stage, and height on treatment adherence (TA) to optimise treatment success.Method: Based on the easypod autoinjector used in the Saizen-online prospective, multicenter, open-label, noninterventional study we analyzed TA in 6 months periods. TA wa...

Background: Prader–Willi Syndrome (PWS) is a complex genetic disease; one hallmark of the disease is failure to regulate hunger and metabolism. Hyperphagia and severe obesity contribute significantly to the morbidity and mortality of this disease. Methionine aminopeptidase 2 (MetAP2) inhibition reduces fat biosynthesis and stimulates fat oxidation and lipolysis. Beloranib is a selective and potent MetAP2 inhibitor. In a 4-week phase 2, placebo-controlled, proof-of-concept...

Introduction: Transition medicine aims at the coordinated transfer of young patients with a chronic disease from paediatric to adult specialist care. The present study reflects 20 years of experience in transitioning patients with congenital adrenal hyperplasia (CAH) in a single centre university setting.Methods: The endocrine transition clinic was established in 2002 and offers joint consultations with a paediatric and ...

Background: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional osteoprotegerin (OPG) is caused by recessive mutations in TNFRSF11B. A genotype-phenotype correlation spanning from mild to very severe forms is described.Objective and hypotheses: To describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carrie...

Background: There is preliminary evidence that adrenal steroids other than cortisol may be valuable biomarkers for major depressive disorder (MDD). So far, studies have been conducted in adults only, and conclusions are limited, mainly due to small sample sizes. Therefore, the present study was intended to assess whether adrenal steroids (progesterone, 17-hydroxyprogesterone, 21-deoxycortisol, 11-deoxycortisol, cortisol, cortisone, deoxycorticosterone, cortico...

Background-Aim: Gene rearrangements between CYP21A2, TNXB and their homologous pseudogenes (CYP21A1P,TNXA) result in chimeric genes, responsible for the CAHX syndrome. CAHX patients show CAH and Ehlers-Danlos syndrome (EDS) symptoms. Three CAHX chimeras with different clinical severity are described: CH1 (including 120bp deletion in exon 35), CH2 and CH3. The small size and few series reported so far warrant further studies ...

Background: Waist circumference (WC) reflects the fat distribution and the degree of central adiposity in children, which is specifically associated with cardiovascular risk factors and useful as a component of metabolic syndrome definition in children.Objective and hypotheses: To evaluate the distribution of WC measures among preschool children aged 3.5–5.5 years from six European countries.Method: Cross-sectional study of a ...

Background: Childhood obesity is a serious health problem, related to an increased risk of adult morbidity and mortality. Evidence indicates that central adiposity increases this risk to a higher degree compared to the general obesity indices.Objective and hypotheses: To evaluate the distribution of anthropometric obesity indices among preschool children aged 3.5–5.5 years, from six European countries, and to examine their associations with certain ...

The Flash glucose monitoring System(FGMS) is a system of measurement of the interstitial glucose levels in real time, safe, effective and doesn´t require calibration. Its low cost has allowed to be approved for all children under 18 years old by our Regional Health Service.Objective: To assess the impact during this first year of use of FGMS in all children diagnosed with type 1 diabetes who previously used the classic method of cap...

Children born small for gestational age (SGA) have a weight and/or heighth less than −2SD from the mean, the realization of an adequate catch-up or not during the first years is important and the growth assessment is required.Objective: Analyze Catch-up on Growth of 52 SGA children during the first 4 years of life, compared 23 children who performed it properly (AC) with 19 who did not recover (NAC).Methods: Retrospective stu...