hrp0082p1-d3-52 | Bone (1) | ESPE2014

Opposing Effects of Childhood Obesity on Radial and Tibial Bone Microstructure

Dimitri Paul , Jacques Richard , Paggiosi Margaret , King David , Walsh Jennifer , Bishop Nick , Eastell Richard

Background: Bone mass is low in obese children when measured by conventional techniques. However, these imaging modalities cannot quantify alterations in bone microstructure and strength. High resolution peripheral quantitative computed tomography (HRpQCT – isotropic voxel size 82 mm) provides the resolution required to determine 3-dimensional in-vivo bone microstructure; microfinite element (microFE) analysis of HRpQCT images provides insight into skeletal biome...

hrp0082p1-d3-126 | Fat Metabolism & Obesity (2) | ESPE2014

Dysautonomia and Acyl Ghrelin in Prader–Willi syndrome

Nyunt Ohn , Archbold Sinead , Donelly Jennifer , Jeffery Penelope , Cotterill Andrew , Davies Peter , Harris Mark

Background: Poor temperature regulation in Prader–Willi syndrome (PWS) suggests dysautonomia probably secondary to hypothalamic dysfunction. Autonomic nervous system (ANS) has control over orexigenic ghrelin.Objective and hypotheses: We aim to assess ANS function in PWS and its association with acyl ghrelin.Method: We recruited 16 genetically-confirmed children with PWS and 16 controls. Exclusion criteria were diabetes mellitu...

hrp0082p1-d3-132 | Fat Metabolism & Obesity (2) | ESPE2014

Impact of Maternal and Fetal Inflammatory Markers on Neonatal and Infant Adiposity

Donnelly Jean M , Walsh Jennifer M , Horan Mary , Molloy Eleanor J , Auliffe Fionnuala Mc

Background: The effect of maternal obesity and the associated maternal inflammation on neonatal and paediatric health and wellbeing over the early childhood years is not fully understood.Objective and hypotheses: This study aimed to determine the impact of maternal and fetal inflammatory factors on infant anthropometric measurements.Method: 265 mother–infant pairs from an RCT assessing the effect of a low glycaemic index diet ...

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....

hrp0082p2-d1-531 | Puberty and Neuroendocrinology | ESPE2014

Very Low Estradiol Levels are Independent From Duration of Amenorrhea in Girls with Severe Anorexia Nervosa

Kyheng Christele , De Filippo Gianpaolo , Castell Anne-Laure , Flandrin Jennifer , Durin Julie , Delafoy Manon , Duranteau Lise

Background: Anorexia nervosa (AN) is a primary psychiatric disease, complicated by serious endocrine disturbances. Hypogonadotropic hypogonadism with primary or secondary amenorrhea is the most common endocrine repercussion of AN, with consequent estrogen deficiency and concerns about bone mineral density. Furthermore, establishing regular menstrual cycles is considered as one of the important milestones in girls treated for AN.Aim: To quantify the estro...

hrp0084lbp-1266 | Late Breaking Posters | ESPE2015

Determining the Effects of Race, Skin Colour, and Genotype on the Response to Vitamin D Therapy

Kothandapani Jaya Sujatha Gopal , Evans Lucy , Walsh Jennifer , Eastell Richard , Bishop Nick

Background: Over-dosing and under-dosing of vitamin D in children and young people appears to be common, based on our audit of current practice. The contribution of ethnicity, skin colour, and vitamin D binding protein (VDBP) genotype has not been fully explored during vitamin D treatment.Objective: To investigate how ethnicity/skin colour and genetic variation affect the response to 150 000 units of vitamin D administered to young adults of White Caucas...

hrp0094fc6.6 | Bone and Mineral Metabolism | ESPE2021

Use of lateral DEXA scanning for identifying and monitoring vertebral fractures in patients affected by Duchenne Muscular Dystrophy.

Turner Lucy , Lemon Jennifer , Landes Caren , Madhu Rajesh , Dharmaraj Poonam , Spinty Stefan ,

Introduction: International guidelines for management of Duchenne Muscular Dystrophy (DMD) advise active screening for vertebral fractures (VF), complications of which include pain, scoliosis and impact on ambulation. Vertebral fracture assessment (VFA) is a technique of visualising thoracic and lumbar vertebrae with a lateral view on dual energy X-ray absorptiometry (DEXA) to identify VF. This is at reduced cost and radiation exposure when compared to spinal ...

hrp0094fc8.5 | Neuroendocrinology | ESPE2021

Bardet-Biedl Syndrome: A retrospective study of progression through puberty

Whitehead Jennifer , Schoeneberg Dillon , Sparks Kathryn , Forsythe Elizabeth , Beales Philip , Peters Catherine , Dastamani Antonia , Katugampola Harshini ,

Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 – 160,000 in Europe and the USA. It is characterised by 6 cardinal features: rod-cone dystrophy, truncal obesity, cognitive impairment, hypogonadism and genitourinary anomalies, postaxial polydactyly and renal dysfunction, as well as a plethora of secondary features spanning multiple body systems. BBS belongs to a family of ...

hrp0094p1-11 | Bone A | ESPE2021

Bone and endocrine monitoring in boys with Duchenne Muscular Dystrophy

Harley Gemma , Dunner Jennifer , Joseph Shuko , Horrocks Iain , Choong Wong Sze ,

Background: In 2020, a UK wide collaborative project between clinicians and patient organisations (Funding from Duchenne UK) called DMD Care UK was launched. The project aims to define the care standards which should be implemented as a priority in all UK centres. Adapting recommendations from the 2018 international care consensus, items were highlighted and used as standards for this audit in one tertiary centre. The standards are that all boys with DMD<p...

hrp0094p1-31 | Fat, Metabolism and Obesity A | ESPE2021

Efficacy and Safety of Setmelanotide in Individuals With Obesity Due to POMC or LEPR Deficiency: Phase 3 Results From Pivotal and Supplemental Cohorts

Farooqi Sadaf , Miller Jennifer , Ohayon Olga , Yuan Guojun , Scimia Cecilia , Stewart Murray , Yanovski Jack ,

Background: Disruption of the melanocortin-4 receptor pathway by genetic variants in POMC/PCSK1 or LEPR can result in hyperphagia and severe early-onset obesity. In the primary analyses of 2 pivotal Phase 3 trials, the melanocortin-4 receptor agonist setmelanotide was associated with significant reductions in body weight and hunger in patients with obesity due to proopiomelanocortin (POMC) or leptin receptor (LEPR) deficiency. These ...