hrp0084p2-223 | Bone | ESPE2015

Refractory Hypercalcaemia of Malignancy: Responsiveness to Denosumab and Zoledronate

Giri Dinesh , Ramakrishnan Renuka , Hayden James , Brook Lynda , Das Urmi , Mughal M Zulf , Selby Peter , Dharmaraj Poonam , Senniappan Senthil

Background: Hypercalcaemia secondary to malignancy is rare in children and adolescents. Parathyroid hormone related peptide (PTH-rP) secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report 2 cases of hypercalcaemia of malignancy refractory to treatment with pamidronate and corticosteroids but responsive to treatment with Denosumab and Zoledronic acid.Case 1: A 17-year-old boy with epidermolysis ...

hrp0084p2-391 | Fat | ESPE2015

POMC DNA Hypermethylation Variant is Highly Associated with Obesity in Adults

Kuhnen Peter , Handke Daniela , Spranger Jochen , Fischer-Rosinsky Antje , Hinney Anke , Hebebrand Johannes , Gruters Annette , Krude Heiko

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...

hrp0084p2-401 | GH &amp; IGF | ESPE2015

GRB10 Knockdown in Zebrafish is Associated with Decreased Weight-to-length Ratio without Alterations in AKT and ERK Activity: A Model to Study Human Growth Regulation

De Leonibus Chiara , Broadbent Jack , Murray Philip , Whitehead Joseph , Hurlstone Adam , Shiels Holly , Clayton Peter , Stevens Adam

Background: In humans GRB10 negatively regulates GH and IGF1 signaling predominantly via altering phosphorylation of PI3K/mTOR/AKT and MEK/ERK pathways which relate to both growth and metabolic function. We have previously shown that Grb10 knockdown in Zebrafish results in overgrowth with an increase in length and head size. However the impact on weight in relation to length has not been assessed.Objective: To develop a model t...

hrp0094fc1.4 | Adrenal | ESPE2021

Acute Illness and Death in Children with Adrenal Insufficiency

Worth Chris , Vyas Avni , Banerjee Indraneel , Lin John , Jones Julie , Stokes Helen , Komlosy Nicci , Ball Steve , Clayton Peter ,

Background: Adrenal Insufficiency (AI) is a heterogeneous diagnosis comprising multiple central and peripheral causes. The unifying feature is the requirement for glucocorticoid replacement and subsequent risk of life-threatening Adrenal Crisis (AC) and Adrenal Death (AD). Very few studies have investigated rates of AD in children. Multiple studies have reported symptoms of children with AC as interpreted by medical staff but no studies have looked at parental...

hrp0094p1-101 | Adrenal B | ESPE2021

The management of adrenal cell carcinoma in a single tertiary centre: 25 year experience

Goff Nicole , Hughes Claire , Katugampola Harshini , Mushtaq Imran , Hindmarsh Peter , Peters Catherine , Brain Caroline , Jorgensen Mette , Dattani Mehul ,

Background: Adrenal cortical carcinoma (ACC) in children is rare and aggressive, with the mainstay of treatment being surgical resection, although there have been recent improvements in outcomes with chemotherapy. Further characterisation of the presenting features and biochemical markers are needed to support earlier diagnosis. Refractory hypertension related to high cortisol concentrations prior to surgery, and post-operative decrease in cortisol can be chal...

hrp0094p1-179 | Growth Hormone and IGFs B | ESPE2021

Novel dominant negative GH receptor variants provide important insights into GH receptor physiology

Andrews Afiya , Cottrell Emily , Maharaj Avinaash , Ladha Tasneem , Williams Jack , Metherell Louise A , McCormick Peter J , Storr Helen L ,

Background: Growth hormone insensitivity (GHI) encompasses normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is an emerging entity which is poorly characterised, and, in many subjects, the underlying cause is unclear. Heterozygous dominant negative (DN) variants located in the intracellular/transmembrane domain of the GH receptor (GHR) cause a ‘non-classical’ GHI phenotype.<p class="abst...

hrp0095fc8.6 | Diabetes and Insulin | ESPE2022

Radio-guided surgery using 68Ga-labelled Exendin in patient with congenital hyperinsulinism

Prasad Vikas , Kühnen Peter , Rothe Karin , Hauptmann Kathrin , Boss Marti , Gotthardt Martin , Brenner Winfried , Beindorff Nicola , Blankenstein Oliver

Congenital hyperinsulinism (CHI) is a life-threatening disease and manifests in the majority of cases in the first days after birth. Based on the distribution of affected cells, focal CHI forms are distinguished from diffuse CHI forms. Focal forms occur in most cases due to a paternally inherited heterozygous mutation in a subunit of an ATP sensitive potassium channel (ABCC8, KCNJ11). Within the diagnostic setting, focal forms can be visualized by 18F DOPA PET scan, as a marke...

hrp0095fc11.6 | Late Breaking | ESPE2022

The follicle-stimulating hormone receptor is expressed in human pancreatic islet beta-cells and its activation increases glucose stimulated insulin secretion

Aydin Banu K. , Chowdhury Azazul , Incedal Ceren , Wen Quan , Cerenius Sara Y. , Stenlid Rasmus , Forslund Anders , Idevall Olof , Bergsten Peter

Background: Follicle-stimulating hormone (FSH) plays a key role in reproduction. The G-protein coupled FSH receptor (FSHR), is expressed primarily in gonads, and specifically binds FSH. FSHR is also expressed in vascular endothelium, osteoclasts, adipose tissue, monocytes and rodent pancreatic islets. Elevated FSH levels are associated with development of obesity, insulin resistance, osteoporosis, and cardiovascular disease. In a recent study, we showed that h...

hrp0095rfc11.1 | Late Breaking | ESPE2022

Six-months of treatment with exenatide improves glycemic control, but does not affect endogenous intact GLP-1 concentrations in adolescents with obesity

Stenlid Rasmus , Y. Cerenius Sara , K. Aydin Banu , S. Gjessing Erik , Manell Hannes , Weghuber Daniel , Forslund Anders , Bergsten Peter

Introduction: When used to treat obesity, glucagon-like peptide 1 (GLP-1) receptor agonists (GLP-1RA) improve both BMI and metabolic health. Liraglutide is approved by both the EMA and FDA for the treatment of pediatric obesity, from 12 years and older. However, 26 weeks after discontinuation of liraglutide, the weight lost during treatment is regained. Prolonged exogenous stimulation of hormone-specific receptors may influence endogenous hormonal regulation. ...

hrp0092fc2.4 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

New Imaging Approaches to the Quantification of Musculoskeletal Alterations in X-Linked Hypophosphatemic Rickets (XLH)

Raimann Adalbert , Mehany Sarah N. , Feil Patricia , Weber Michael , Pietschmann Peter , Boni-Mikats Andrea , Klepochova Radka , Krssak Martin , Haeusler Gabriele , Schneider Johannes , Raum Kay , Patsch Janina

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...