ESPE Abstracts

Background: IGF1 is a biomarker of GH, and is often used to titrate the dose of GH therapy. However, IGF1 production is regulated by not only GH but also other factors.Objective and hypotheses: We investigated whether the increase in IGF1 at several time points after the commencement of GH therapy could be a predictive factor for the improved growth.Method: We studied 45 pre-pubertal patients with GH deficiency (GHD) that had conti...

Background: Haematopoietic stem cell transplantation (HSCT) is a risk factor for young adult onset diabetes mellitus (DM) and hyperlipidaemia (HL) as late effects, especially the use of total-body irradiation (TBI). In order to investigate the clinical details, we retrospectively analysed the post-HSCT patients in our institution that required treatment for DM and/or HL.Results: From 1983 to 2012, 24 children received HSCT in our hospital because of haem...

Background: As a curative therapy, haematopoietic stem cells transplantation (HSCT) has been also used for patients with non-neoplastic diseases such as aplastic anemia, primary immunodeficiency, and some congenital metabolic diseases. For these diseases, the intensity of the conditioning has been reduced comparing to that of malignancy diseases. Therefore, late effects of HSCT for non-neoplastic diseases has been expected to be milder than that for neoplastic diseases, howeve...

Background: The overall incidence of Cushing’s syndrome in children is ~0.2–0.5 new cases per million people per year. Cushing’s disease is more infrequent under 7-year-old children. The typical symptoms are not often observed in childhood. Therefore, the early diagnosis is difficult, when pituitary tumour is not detected by pituitary MRI.Objective and hypotheses: A 5-year-old boy was referred to our hospital by a decrease in growth veloci...

Objectives: This trial (NCT01927861) evaluated the growth-promoting effect and safety of Norditropin® (somatropin; recombinant human growth hormone) in Japanese children with short stature due to Noonan syndrome over four years of treatment.Methods: Pre-pubertal children diagnosed with Noonan syndrome were randomized 1:1 to receive Norditropin® 0.033 mg/kg/day or 0.066 mg/kg/day. Change in...

Context: Maternal uniparental disomy for chromosome 20 (UPD(20)mat) resulting in aberrant expression of imprinted transcripts at the GNAS locus is a poorly characterized condition. Only 10 non-mosaic cases have been studied clinically. These patients presented with pre- and post-natal growth failure and feeding difficulties. The phenotype of these cases overlapped with that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etio...