ESPE Abstracts

Background: IGF1R gene mutation usually cause IUGR. The children born with IUGR were prone to some kinds of brain function disorders.Objective and hypotheses: The dysfunction of the brain was caused by the abnormal oligodendrocyte development.To establish lentivirus vector of IGF1R gene mutation (R709Q) and transfect oligodendrocyte precursors (Ge6). Observe the IRS/MAPK and PI3K/Akt/PKB signaling pathway and the change of proliferation, differentiation,...

Background: Mutations in the human GH receptor gene (GHR) are the most common cause of GH insensitivity (GHI) syndrome and IGF1 deficiency. The extracellular domain of GHR (encoded by exons 2–7 of the GHR gene) can be proteolytically cleaved to circulate as GH-binding protein.Objective: To evaluate the cause of classical GHI (Laron) phenotypes in two siblings and their parents.Method: We observed clinical characteristics of tw...

Background: We already described a partial IGF1 primary deficiency due to an exon 4 homozygous missense mutation (g.65941 G>A). A few patients are now described with a heterozygous IGF1 deletion or mutation, questioning about IGF1 haplo insufficiency role in short stature.Results: We describe a boy born from consanguineous parents, with an intra uterine growth restriction (IUGR). Birth weight: 2520 g (−1 SDS) birth length: 46 ...

Background: CrescNet is a large data base used to document children’s growth and weight development in more than 300 primary care practices and in eight specialized paediatric endocrinological centres in Germany.Aims and method: We investigated 3281 patients with IGF1 measurements during their consultations and subsequent checkups. We analysed 2269 children without an indication for rhGH treatment and 1012 who were subsequently treated with rhGH. A ...

Background: The familial type of isolated GH deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type 1A and 1B, the autosomal-dominant type 2, and X-linked recessive type 3. Phenotype-genotype correlations are notoriously difficult to be established.Objective and hypotheses: Herein, we described the variable clinical status of a family with a novel GH1 mutation which is...

Background: There is still need to define permanent GHD after adult height achievement in young adults with childhood-onset GHD (COGHD).Objective and hypothesis: To reassess GH response during transition.Method: We present the final data of 129 subjects (71M) recruited from a multicenter cross-sectional observational study, in whom anthropometrics, ITT (n=99), GHRH–arginine (n=122), IGF-1 evaluations were und...

Background: The concentration and conformation of carotenoids and blood plasma in girls with Turner syndrome (TS) were observed.Objective and hypotheses: The level and conformation of blood plasma carotenoids could be used as markers of overall condition of patients. The obtained data was compared with the parameters of antioxidant status before and after 1 year of GH therapy.Method: 12 prepubertal girls (median 13.2 years) with TS...

Introduction: Standard dose for GH deficient children is 0.025 mg/kg per day given subcutaneously once daily. Inborn panhypopituitarism is a special subset of GH deficiency. Its management is difficult because several hormones need to be replaced. We present three patients with perinatal onset panhypopituitarism.Case reports: Case 1 is a 7-year-old boy who had hypoglycaemic seizure with reanimation due to circulatory arrest shortly after birth. Panhypopi...

Background: Treatment compliance is one of the most important practical aspects in long-term treatments such as GH therapy.Objective and hypotheses: To evaluate the level of compliance and its association with duration of treatment and other demographic factors.Method: A prospective study with the use of validated questionnaires was conducted in the Endocrinology Department of one of the two main Pediatric Hospitals in Athens. The ...

Background: GH deficiency (GHD) in adults has been consistently associated with increased adiposity and decreased lean mass. Data in childhood are still scanty and the most appropriate tools to assess body composition in these children remain to be established.Objective and hypotheses: To evaluate the effects of GHD and GH replacement therapy (GHRT) on body composition in GHD children and make a comparison between DXA and anthropometric measures in evalu...

Background: GH treatment requires regular, daily s.c. injections for very long periods of time when not virtually for a lifelong period. The mean final height attained with GH therapy is influenced by poor adherence to treatment.Objective and hypotheses: The main aim of this study was to identify non-adherent patients to GH therapy and to determine the influence of compliance in response to the treatment (IGF1 serum levels and growth velocity). We also e...

Background: Prader–Willi syndrome (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11–q13 region and characterized by hypotonia, a poor suck, hypogonadism, GH deficiency(GHD), learning and behavioural problems. GH acts as a ligand for the GH receptor (GHR) coded by a gene polymorphism for an exon-s deletion (d3) seen in about 50% of Caucasians and associated with an increased response to GH (GH) therapy.<p class="abstext"...

Background: Multiple external influences have proved to be of importance in auxology. Sub-group analysis can identify specific factors involved in normal children development.Objective and hypotheses: The main objective of the study was to identify differences in development in children born the same day from different parents. Our hypothesis was that there are identifiable general factors that predict the growth of a child.Method:...

Background: Skeletal dysplasias comprise heterogeneous disorders often characterised by short stature with abnormalities of one or more of epiphysis, metaphysis or diaphysis. Over 200 types of skeletal dysplasias are identified, most of which are autosomal dominantly inherited. Actually, surgery has attempted to correct bone deformities but drug therapy for improving their severe short stature has been rarely attempted.Objective and hypotheses: Administr...