Previous issue | Volume 84 | ESPE2015 | Next issue

54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

Card image cap
Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p1-78 | Growth Hormone | ESPE2015

Influence of Genetic Variation on the Response to Recombinant Human Growth Hormone Treatment in Children with GH Deficiency: An Analysis of 13 Single Nucleotide Polymorphisms and the GH Receptor Exon 3 Deletion

Jung Anna-Maria , Hoffmann Paul Francois , Monz Dominik , Lissewski Christina , Schanze Denny , Zenker Martin , Rohrer Tilman Robert

Background: Growth hormone deficiency (GHD) is the most common endocrine cause of impaired growth. Recombinant human GH (rhGH) therapy does not always achieve complete catch-up growth or final height within the genetic target height despite standardised treatment guidelines. The factors causing the considerable variability in responsiveness to rhGH have not yet been fully elucidated. Apart from a number of auxological and clinical parameters, genetic factors also appear to pla...

hrp0084p1-79 | Growth Hormone | ESPE2015

Decrease of Jumping Power in Adolescents with Severe GHD After Stop of GH-Therapy

Schweizer Roland , Ziegler Julian , Binder Gerhard

Background: Recently we demonstrated that male adolescents with severe GHD (sGHD) had a significant decrease of lean body mass and increase in fat mass after stop of GH-therapy. The functional consequence of this observation is unknown.Objective and hypotheses: The aim was to study the changes in parameters of jumping mechanography in adolescents with GHD in the transition period (end of growth) after stop of GH-therapy.Patients an...

hrp0084p1-80 | Growth Hormone | ESPE2015

Good Clinical Response to the Growth Hormone Therapy in the Patient with Familiar Short Stature Caused by Novel p.Val478Serfs*14 Mutation in ACAN Gene and Isolated Growth Hormone Deficiency

Pruhova Stepanka , Dusatkova Lenka , Dusatkova Petra , Zemkova Dana , Lebl Jan

Background: Recently a heterozygote mutations in the gene ACAN coding the protein aggrecan has been described as a cause of familiar short starture combined with accelerated bone age. The aggrecan is an extracellular proteoglycan in cartilage of growth plates and plays an important role in biological and biomechanical properties of cartilage.Objective and hypotheses: To provide a genetic screening of ACAN within the families with familiar short stature a...

hrp0084p1-81 | Growth Hormone | ESPE2015

The Growth Response to Growth Hormone Treatment is Greater in Patients with SHOX Enhancer Deletions Compared to SHOX Defects

Donze Stephany , Meijer Caroline , Kant Sarina , Zandwijken Gladys , van der Hout Annemieke , van Spaendonk Resie , van den Ouweland Ans , Wit Jan Maarten , Losekoot Monique , Oostdijk Wilma

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

hrp0084p1-82 | Growth Hormone | ESPE2015

Assessment of Primary Cancers in Growth Hormone–Treated Paediatric Patients Compared with General Population Registries: An Epidemiological Analysis of a Large, Multinational, Prospective Observational Study

Child Christopher , Zimmermann Alan , Jia Nan , Robison Leslie , Bramswig Jurgen , Blum Werner

Background: Concern remains regarding the potential influence of growth hormone (GH) treatment on neoplasia because of the general growth-inducing effect of GH and associations between high serum IGF1 concentrations and certain cancers in adulthood. Many studies that evaluated risk for primary cancer in GH-treated patients without previous malignancy found no increased rates of primary neoplasia. A higher risk for colorectal cancer was observed in a single-country cohort treat...

hrp0084p1-83 | Growth Hormone | ESPE2015

Genetic Markers Contribute to the PREDICTION of Response to GH in Severe but not Mild GH Deficiency

Stevens Adam , Murray Philip , Wojcik Jerome , Raelson John , Koledova Ekaterina , Chatelain Pierre , Clayton Peter

Background: Single nucleotide polymorphisms (SNPs) associated with the response to GH therapy have previously been identified in growth hormone deficient (GHD) children in the PREDICT long-term follow-up (LTFU) study (NCT00699855).Objective and hypotheses: To assess the effect of GHD severity on the predictive value of genetic markers of growth response.Method: We used pre-pubertal GHD children (peak GH <10 μg/l) from the ...

hrp0084p1-84 | Growth Hormone | ESPE2015

Disease and Treatment Burden in Children and Adolescents with Growth Hormone Deficiency

Brod Meryl , Hojbjerre Lise , Alolga Suzanne , Nacson Alise , Nordholm Lars , Rassmussen Michael Hojby

Background: Children with growth hormone deficiency (GHD) may experience physiological symptoms as well as social and emotional problems.Objective and hypotheses: This qualitative study explored the burden of GHD and treatment for children and their parents.Method: 70 interviews were conducted with 39 children (age 8–12) and 31 parents of children with GHD (age 4–12) in Germany, UK and USA. Interviews were analysed using ...

hrp0084p1-85 | Growth Hormone | ESPE2015

Effects of Growth Hormone Treatment on Immunity

Canete Ramon , Caballero Maria Dolores , Aguado Rocio , Santamaria Manuel

Background: As well as acting on longitudinal growth, growth hormone (GH) also has a number of metabolic effects, and is involved in the regulation, functioning and development of the immune system.Aims: To evaluate the immune profile in GH-deficient children after 6 months’ GH treatment.Method: A total of 44 children were examined before and after a six-month course of treatment with rhGH (0.03 mg/Kg per day). Levels of IGF1 ...

hrp0084p1-86 | Growth Hormone | ESPE2015

The Growth Hormone Treatment Results in the Increase of Irisin Concentration in Plasma

Wikiera Beata , Pukajlo Katarzyna , Laczmanski Lukasz , Sloka Natalia , Basiak Aleksander , Noczynska Anna , Bolanowski Marek , Daroszewski Jacek

Background: Brown adipose tissue metabolism is of remarkable pathophysiological interest, because it could be a target for therapies for obesity and metabolic syndrome. Irisin (Ir), recently identified adipomyokine is essential in a white-to-brown fatty tissue transdifferentiation, and mediates some of the positive influences on metabolic disorders through increase of energy expenditure. The exact regulation of Ir secretion and action is unknown but positive associations of ci...

hrp0084p1-87 | Growth Hormone | ESPE2015

A Novel OTX2 Gene Mutation in a Child with Growth Hormone Deficiency

Lonero Antonella , Delvecchio Maurizio , Primignani Paola , Caputo Roberto , De alma Fabrizia , Luce Vincenza , Faienza Maria Felicia , Cavallo Luciano

Background: OTX2 is expressed in the human brain and plays a key role in the eye development. OTX2 mutations are reported in patients with ano/microphtalmia, optic nerve or optic chiasm hypoplasia, ocular coloboma and retinal dystrophies, associated in some cases with brain or pituitary abnormalities.Objective and hypotheses: Most of OTX2 mutations are nonsense or frameshift, more rarely missense mutations occur.Method: We...

hrp0084p1-88 | Growth Hormone | ESPE2015

The Dose Dependent Effect of Growth Hormone Therapy in Patients with IGF1 Receptor Haploinsufficiency due to Heterozygous Deletion

Mizuno Haruo , Aoyama Kohei , Tanaka Tatsushi , Saitoh Shinji

Background: The IGF1 receptor (IGF1R) gene is located on the distal long arm of chromosome 15 (15q26.3). Heterozygous inactivating mutations of the IGF1R gene cause intrauterine and postnatal growth failure and mental retardation.Objective: The purpose of this research is to determine the most effective GH treatment for patients with IGF1R haploinsufficiency due to heterozygous deletion.Method: We investigated the clinical course o...