hrp0082p2-d3-499 | Endocrine Oncology | ESPE2014

GH-Secreting Pituitary Adenoma with Gigantism: a Challenging Case

Chinoy Amish , Ismail Dunia , Kalitsi Jennifer , Gordon Nadia , Bullock Peter , Kapoor Ritika , Aylwin Simon , Buchanan Charles

Background: Pituitary gigantism is a rare condition that occurs due to excessive GH secretion during childhood, usually associated with a pituitary adenoma. We describe a case that required the full spectrum of standard therapeutic options available.Case report: A 15-year-old boy presented with a 3-year history of intractable occipital headaches and being psychologically distressed by his tall stature (203 cm). He had mild clinical features of GH excess....

hrp0084fc12.4 | Obesity - Clinical | ESPE2015

RM-493, a Melanocortin-4 Receptor (MC4R) Agonist, is Being Therapeutically Evaluated in Patients with Deficiencies in the Leptin – Proopiomelanocortin (POMC) – MC4R Hypothalamic Pathway, Including Prader–Willi Syndrome (PWS)

Kuhnen Peter , Krude Heiko , Wiegand Susanna , van der Ploeg Lex , Fiedorek Fred , Hylan Michelle , Gottesdiener Keith

Background: The hypothalamic leptin–melanocortin signalling pathway is a critical regulator of human appetite and weight regulation. Monogenetic defects in the POMC gene, the MSH ligand generating PC1 gene and the MSH receptor gene MC4R lead to severe early onset and leptin-resistant obesity. In PWS, where the function of genes such as MAGEL2 are impaired, the Magel2-/- mouse model revealed decreased POMC neuronal functioning as one c...

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 ...

hrp0084p2-394 | GH &amp; IGF | ESPE2015

Gene Expression Profiles in GH Deficient Children Relate Peak GH Levels to Circadian Clock, Chromatin Remodelling, and WNT Signalling Pathways

Murray Philip , Stevens Adam , DeLeonibus Chiara , Koledova Ekaterina , Chatelain Pierre , Clayton Peter

Background: GH deficiency (GHD) is classically defined on the basis of a cut-off applied to the peak GH level during stimulation tests; a process with recognised limitations. Identifying the functional role of genes whose expression is associated with pGH may help with our understanding and classification of GHD.Objective and hypotheses: Identify patterns of gene expression (GE) related to pGH and to describe the function, and regulation of these genes.<...

hrp0084p2-398 | GH &amp; IGF | ESPE2015

The In vitro Functional Analysis of Gene Promoter Region Single Nucleotide Polymorphisms Associated with GH Response in Children with GH Deficiency

De Leonibus Chiara , Murray Philip , Hanson Dan , Stevens Adam , Clayton Peter

Background: Response to GH treatment has been associated with single nucleotide polymorphisms (SNPs) within the promoter region of growth-related genes including GRB10 (rs1024531 (A/G, allele A increased response)), IGFBP3 (rs3110697 (G/A, G increased response)), CYP19A1 (rs10459592 (T/C, T increased response)) and SOS1 (rs2888586 (G/C, C increased response)). SOS1 is a positive regulator of GH signalling (MAPK pathway); the aromatase CYP19A1 promotes oestrogen synthesis to im...

hrp0084p2-418 | GH &amp; IGF | ESPE2015

Random Forest Classification Predicts Response to Recombinant GH in GH Deficient Children Using Baseline Clinical Parameters and Genetic Markers

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

Background: Prediction of response to recombinant GH (r-GH) is currently based on regression modelling. This approach generates a prediction equation which can be applied to data from an individual child. However this method can underestimate the effect of inter-dependent variables. Random forest classification (RFC) is an alternative prediction method based on decision trees that is not sensitive to the relationships between variables.Objective and hypo...

hrp0094fc9.6 | Growth Hormone and IGFs | ESPE2021

Impact of pre-transplant serum-IGF-1 on hematopoietic stem cell transplantation outcome in pediatric cancer patients

Betzmann Deborah , Doring Michaela , Blumenstock Gunnar , Erdmann Friederike , Grabow Desiree , Lang Peter , Binder Gerhard ,

Background: Hematopoietic stem cell transplantation (HSCT) is associated with severe medical complications and variable outcome depending on the recipient’s disease stage and health condition. As serum-IGF 1 is decreased in patients with severe illness, after major surgery, in malnutrition, and other conditions that cause catabolic metabolism, it may serve as predictive biomarker for transplant outcome.Individuals and Methods: Based...

hrp0094p1-40 | Fat, Metabolism and Obesity A | ESPE2021

Liraglutide for the Management of Childhood Obesity

Apperley Louise , Erlandson-Parry Karen , Gait Lucy , Laing Peter , Senniappan Senthil ,

Introduction: The prevalence of childhood obesity is continuing to increase worldwide and has become a major health concern. There are a number of serious complications to childhood obesity with significant long-term health implications if not managed in a timely matter. These complications include type 2 diabetes mellitus (T2DM), obstructive sleep apnoea (OSA), idiopathic intracranial hypertension (IIH) and non-alcoholic fatty liver disease (NAFLD). At presen...

hrp0094p1-88 | Pituitary A | ESPE2021

Pituitary microadenomas in childhood – is follow-up with diagnostic imaging necessary?

Borghammar Camilla , Tamaddon Askan , Erfurth Eva-Marie , Sundgren Pic C , Siesjo Peter , Nilsson Margareta , Elfving Maria ,

Aim: We aimed to investigate the growth potential of pituitary microadenomas and cystic lesions < 10mm in children, and to evaluate how reproducible the measurements were on magnetic resonance imaging (MRI).Design: Retrospective observational study.Methods: 74 children were included < 18 years at first pituitary MRI, and diagnosed with a microadenoma (microadenoma producing ACTH, GH or TSH ...

hrp0094p2-50 | Adrenals and HPA Axis | ESPE2021

First case in Lebanon of homozygous mutation in CYP 11B2 leading to isolated aldosterone deficiency.

Azar Ahlam , El-Rahi Hiba , Makhoul Kevin , Makhoul Peter , Megarbane Andre ,

Isolated hypoaldosteronism is a rare cause of salt wasting in infancy and may be life-threatening, especially in the newborn. Isolated aldosterone deficiency results from loss of activity of aldosterone synthase encoded by CYP 11B2 gene. We reported the case of a newborn, who presented at the age of 4 weeks with severe dehydration, vomiting and hypotonia. Blood investigations showed severe hyponatremia, hyperkaliemia and metabolic acidosis. The familial history revealed a firs...