hrp0089rfc2.1 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

High-Resolution MRI Imaging of Bone-Muscle-Fat in Glucocorticoid Treated Boys with Duchenne Muscular Dystrophy: Results from the ScOT-DMD Study

Joseph Shuko , Dunne Jennifer , Elsharkasi Huda , Foster John , Horrocks Iain , Di Marco Marina , McComb Christine , Ahmed S Faisal , Wong Sze Choong

Background: The pathophysiological mechanism of skeletal fragility in Duchenne Muscular Dystrophy (DMD) is unclear.Objective: To compare trabecular bone microarchitecture, cortical geometry, muscle area and fat fraction (FF) at distal femur and vertebral bone marrow adiposity (BMA) between DMD and controls.Method: Bone-muscle and muscle FF were assessed using 3T MRI and Dixon technique. BMA was assessed using 1H-MRS. Results expres...

hrp0089rfc11.5 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

The Determinants of Skeletal Fragility in Children with Type 1 Diabetes Mellitus

Chen Suet Ching , Shepherd Sheila , McMillan Martin , McNeilly Jane , McComb Christie , Foster John , Robertson Kenneth J , Wong Sze Choong , Ahmed S Faisal

Background: The pathophysiology of the increased fracture risk in Type 1 Diabetes Mellitus (T1DM) remains unclear.Objectives: Perform multimodality assessment to determine the effects of T1DM on bone health and fractures.Methods: Thirty-two children with T1DM at a median (range) age of 13.7 years (10.4, 16.7), and median HbA1c 65mmol/mol (27,100) were recruited. Serum bone alkaline phosphatase (BAP) and c-terminal telopeptide type ...

hrp0089p1-p015 | Adrenals and HPA Axis P1 | ESPE2018

New Insights into Low Dose Dexamethasone Suppression Test in Paediatric Cushing’s Syndrome

Wilkinson Ingrid C E , Martin Lee , Grossman Ashley B , Monson John P , Akker Scott , Savage Martin O , Drake William M , Storr Helen L

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...

hrp0089p2-p020 | Adrenals and HPA Axis P2 | ESPE2018

Long-term Follow-up of Safety and Disease Control for Hydrocortisone Granules Designed to give Age-appropriate Dosing with Taste Masking to Children with Adrenal Insufficiency

Neumann Uta , Braune Katarina , Whitaker Martin , Wiegand Susanna , Krude Heiko , Porter John , Digweed Dena , Voet Bernard , Ross Richard , Davies Madhu , Blankenstein Oliver

Context: Alkindi® (Hydrocortisone Granules, Diurnal Ltd, UK), was recently licensed for oral administration to children with adrenal insufficiency (AI) from birth to 18 years. Previously, children received compounded hydrocortisone to achieve age appropriate dosing, however almost 25% of batches were out of specification for mass and content uniformity and clinically evident under- and over-dosing was reported.Objectives: Primary: long-te...

hrp0089p1-p144 | GH &amp; IGFs P1 | ESPE2018

A New p.(Ile66Serfs*93) IGF2 Variant Is Associated with SRS-like Phenotype

Rockstroh Denise , Pfaffle Heike , Le Duc Diana , Roszler Franziska , Schlensog-Schuster Franziska , Heiker John T , Kratzsch Jurgen , Kiess Wieland , Lemke Johannes , Abou Jamra Rami , Pfaffle Roland

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

hrp0086p1-p567 | Perinatal Endocrinology P1 | ESPE2016

Risk Factors and Clinical Features of a Large Cohort of Patients with Transient Hyperinsulinemic Hypoglycaemia

Ozsu Elif , Reed John , Hussain Alsaffar , Patil Prashant , Giri Dinesh , Dharmaraj Poonam , Blair J O , Das Urmi , Senniappan Senthil , Didi Mohommad

Background: Transient hyperinsulinemic hypoglycaemia (THH) is associated with risk factors such as prematurity, maternal diabetes mellitus, perinatal hypoxia, small for gestational age (SGA) and syndromes like Beckwith Wiedemann syndrome (BWS).Objective: To present the features of a large cohort of patients with THH managed at a Quaternary referral centre.Method: Patients who had neonatal onset HH that resolved before the 2nd birth...

hrp0082p2-d1-416 | Growth Hormone | ESPE2014

Absence of GH Signaling Induces Hypothalamic Inflammation that is Reversed in Response to a High Fat Diet

Baquedano Eva , Ruiz-Lopez Ana , Pardo-Barquin Elena , Gosney Elahu S , Herpy James , Chowen Julie A , Argente Jesus , Kopchick John J , Frago Laura M

Background: The GH/IGF1 axis has important roles in growth, metabolism, lipid profile and body composition. GH receptor disrupted mice (GHRKO mice) are resistant to the action of GH, thereby, GHRKO mice are dwarf, hypoinsulinemic, hypoglycemic and obese. Consumption of a high fat diet (HFD) induces inflammatory processes in a multitude of peripheral tissues, including hypothalamus.Objective and hypotheses: Our aim was to evaluate the effect of HFD intake...

hrp0082lbp-d3-1017 | (1) | ESPE2014

Exploring the Pathogenesis of Hypothalamic Obesity: the Interaction of Hormonal, Neuronal and Psychological Factors

Steele Caroline , Powell Joanne , Kemp Graham , Halford Jason , Wilding John , Harrold Joanne , Das Kumar , Cuthbertson Daniel , Javadpour Mohsen , MacFarlane Ian , Stancak Andrej , Daousi Christina

Background: Acquired hypothalamic damage frequently causes obesity (BMI ≥30 kg/m2), often refractory to treatment. The interaction of hormonal, neuronal and psychological factors underlying hypothalamic obesity (HO) remains poorly understood.Methods: In fasted and fed states participants underwent blood sampling (GLP-1, insulin, PYY, ghrelin and glucose), fMRI scanning (viewing food/non-food photographs) and assessment of hunger and sati...

hrp0084fc6.2 | Gonads &amp; DSD | ESPE2015

A Role for DMRT1 in Human Primary Sex-Determination

Rojo Sandra , Murphy Mark , Lee John , Gearhart Micah , Kurahashi Kayo , Banerjee Surajit , Loeuille Guy-Andre , Zarkower David , Aihara Hideki , Bardwell Vivian , McElreavey Ken , Bashamboo Anu

Background: DMRT transcription factors are highly conserved regulators of metazoan sexual development. The role of DMRT1 in human primary sex-determination is unclear. Chromosome 9p deletions that remove one copy of DMRT1 are associated with 46,XY feminization and gonadal dysgenesis. While they suggest that DMRT1 is haploinsufficient for testicular development, these deletions usually remove other genes, including DMRT2 and DMRT3. Also, most 9p deletions cause incomplete gonad...

hrp0084fc11.6 | Neuroendocrinology | ESPE2015

Long-term Outcome of Patients Treated for Paediatric Cushing’s Disease

Yordanova Galina , Lee Martin , Afshar Farhad , Sabin Ian , Alusi Ghasan , Plowman Nicholas , Evanson Jane , Matson Mattew , Grossman Ashley , Akker Scott , Monson John , Drake Wiliam , Savage Martin , Storr Helen

Background: Due to the rarity of Paediatric Cushing’s disease (CD) there is limited data on the long-term consequences of treatment.Objective and hypotheses: We assessed recurrence, anterior pituitary function and psychiatric disorders in a group of paediatric CD patients treated in a single centre.Method: Retrospective review of 20 patients with CD, mean age 11.75 years (5.74–17.8), managed in our centre between 1986 and...