hrp0084fc1.1 | Adrenal | ESPE2015

A Genomic Atlas of Human Gonad and Adrenal Development

Duncan Andrew , Buoncore Federica , Lin Lin , Barenco Martino , Hubank Mike , Gerrelli Dianne , Achermann John

Background: The adrenal glands and gonads develop from an area of intermediate mesoderm between 6 and 10 weeks post conception (wpc) in humans. Elucidating the genomic components and pathways in these processes could reveal novel aspects of human developmental biology and new factors implicated in adrenal insufficiency and DSD.Objective and hypotheses: To develop a unique genomic atlas of adrenal and gonad development during critical stages of human embr...

hrp0086p1-p27 | Adrenal P1 | ESPE2016

Beckwith-Wiedemann Syndrome and Bilateral Phaeochromocytoma: A Diagnostic Challenge

Cottrell Emily , Glaser Adam , Blackburn Mike , Alvi Sabah , Mushtaq Talat , Squire Roland , Steele Caroline

Background: Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth disorder secondary to various mutations in growth-regulatory genes on chromosome 11p15.5. A well-established association exists between BWS and both benign and malignant tumours, most commonly WilmsÂ’ tumour and hepatoblastoma. We present a less frequently described diagnosis of bilateral phaeochromocytoma in association with BWS.Case report: We report the case of a 14-year-old girl w...

hrp0086lbp5 | (1) | ESPE2016

Development of Skeletal Microarchitecture and Biomechanics Over 2 Years Following 6 Month Intragastric Balloon Insertion in Obese Adolescents

Sachdev Pooja , Reece Lindsey , Copeland Rob , Thomson Mike , Wales Jerry , Jacques Richard , Dimitri Paul , Wright Neil

Background: A reduction in bone mass in adults and adolescents has been observed following Roux-en-Y bypass surgery with an increase in fracture risk reported in adults. However, the intragastric balloon (IGB) is a less invasive bariatric procedure.Objective and hypotheses: Given obese adolescents are at greater risk of fracture we studied the impact of a 6 month IGB insertion on skeletal mass, geometry and strength over 2 years.Me...

hrp0084p1-50 | Diabetes | ESPE2015

A Feasibility Study of Intra-Gastric Balloons (Supported By a Lifestyle Programme) for the Treatment of Severe Adolescent Obesity: the (Bob) Study

Sachdev Pooja , Reece Lindesy , Copeland Rob , Thomson Mike , Natarajan Anuja , Wales Jerry , Wright Neil

Rationale: Although many adolescents meet the NICE criteria for bariatric surgery in the UK, there is a reluctance to undertake or commission irreversible procedures in young people. Balloons are temporary, reversible, safer and in adults have been shown to promote a clinically significant change in BMI of between 4.0 and 9.0 kg/m2. However due to subsequent weight regain, bypass surgery is preferred in adults. In adolescents, more amenable to change, balloons may p...

hrp0086p2-p73 | Adrenal P2 | ESPE2016

Patients with Congenital Adrenal Hyperplasia have Significantly Higher Healthcare Utilisation than the General Paediatric Population

Jenkins-Jones Sara , Holden Sarah , Morgan Christopher , Currie Craig , Whitaker Martin , Ross Richard , Withe Mike , Porter John

Background: Congenital adrenal hyperplasia (CAH) is a rare disorder of steroid synthesis. Patients have multiple health problems. Healthcare utilisation has not previously been assessed in the paediatric population with CAH.Objective and hypotheses: To assess healthcare resource use in patients in England with CAH.Method: The English Clinical Practice Research Datalink (CPRD) database is an observational and interventional research...