ESPE Abstracts

Background, Objective and hypotheses: GX-H9 is a hybrid Fc-based long-acting recombinant human growth hormone (hGH). The safety, tolerability, and PK/PD of single ascending dose in healthy volunteers were assessed to determine GX-H9 doses capable of normalizing IGF-1 level. The PK/PD, safety, efficacy and tolerability of multiple sequential doses of GX-H9 in adult growth hormone deficiency (AGHD) were compared to that of a daily recombinant hGH in AGHD. A Phase 2 study in pedi...

Introduction: Beta-thalassaemia is caused by point mutations leading to decreased production of beta-globin, which results in defective red blood cells and ineffective erythropoiesis. Complications are microcytic hypochromic anaemia, extramedullary haematopoiesis and increased intestinal iron absorption due to compensation mechanisms. The resulting iron overload can be aggravated by recurrent blood transfusions necessary for treatment of anaemia and may cause several endocrine...

Background: A fair number of epidemiological studies suggest that age at menarche (AAM) is associated with depression, but the reported effect sizes are small, and there is evidence of residual confounding. Moreover, previous Mendelian randomization (MR) studies to avoid inferential problems inherent to epidemiological studies have provided mixed findings.Methods: To clarify the causal relationship between age at menarch...

Background: POMC plays a major role in central body weight regulation. Recently we have shown that a POMC hypermethylation variant is significantly associated with obesity in children and adolescents (Kuehnen et al. PLoS Genetics 2012).Objective and hypotheses: Here we report about our extended studies to elucidate the mechanism behind the occurrence of the POMC hypermethylation variant in obese individuals.<p clas...

Background: There is a distinct increase in the prevalence of depression with the onset of puberty. The role of peripubertal testosterone levels in boys in this context is insufficiently understood. Moreover, the number of CAG repeats of the androgen receptor gene (AR) and the depression status (subclinical vs. overt depression) may modulate the role of testosterone, but this has not yet been studied in a clinical sample.Methods:...