Searchable abstracts of presentations at key conferences in endocrinology

ea0027p74 | (1) | BSPED2011

Age at onset of inappropriate weight gain in Prader--Willi syndrome; an opportunity for obesity prevention

Abouof Noran , Shaikh M Guftar , Donaldson Malcolm

Background: Prader-Willi syndrome (PWS) results from loss of paternally imprinted gene(s) from the 15q 11-13 region and is characterised by weight faltering during early childhood due to hypotonia, followed by obesity due to onset of the hyperphagic phase.Aim of study: To determine the presence of an age zone during which excessive weight gain is particularly likely, in order to target counselling and dietary input.Method: Body mas...

ea0051p044 | Pituitary and growth | BSPED2017

Changing patterns of growth in children with prader-willi syndrome

Neophytou Georgia Irene , Frixou Mikaela , Shaikh M Guftar , Kyriakou Andreas

Introduction: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 2000–2017, were analysed. To identify changes in growth we compared growth parameters between 2000–2012 and 2013–2017...

ea0051p048 | Pituitary and growth | BSPED2017

Growth hormone use in prader-willi syndrome – Experience of a dedicated paediatric clinic

Frixou Mikaela , Neophytou Georgia Irene , Shaikh M. Guftar , Kyriakou Andreas

Introduction: In Prader-Willi Syndrome (PWS), multidisciplinary evaluation is recommended both prior to GH initiation and at regular intervals during treatment.Methods: We reviewed the changes in GH use and the investigations performed prior and during GH therapy, in 58 children, from 2000 to 2017. International consensus recommendations were used as the gold standard of care. Data was analysed to compare four (2000–2004, 2005–2008, 2009–2...

ea0039ep91 | Obesity | BSPED2015

Leptin replacement improves central ventilation in a patient with congenital leptin deficiency: first report in childhood

Lucaccioni Laura , Davies Philip L , Gibson Neil A , Farooqi Sadaf , Shaikh M Guftar

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

ea0036oc3.2 | Oral Communications 3 | BSPED2014

Vertebral fracture assessment in a paediatric population using dual-energy X-ray absorptiometry

Kyriakou Andreas , Shepherd Sheila , Lucaccioni Laura , Shaikh M Guftar , Mason Avril , Ahmed S Faisal

Background: Vertebral Fractures (VF) are recognized as an important aspect of bone health in children and adolescents. The clinical utility of vertebral fracture assessment (VFA) using dual-energy X-ray absorptiometry (DXA) has not been evaluated in the paediatric population.Method: VFA was performed independently by two non-radiologist observers, in 165 patients (77M/88F) as part of their investigation for low bone mineral density. Lateral thoracolumbar...

ea0033oc1.3 | Oral Communications 1 | BSPED2013

The utility of AMH for predicting testosterone response to HCG stimulation in children with suspected DSD

Kyriakou Andreas , McNeilly Jane D , Shaikh M Guftar , Giacomozzi Claudio , Shapiro David , Ahmed S Faisal

Introduction: In children undergoing investigation of testicular function the relationship between serum anti-Müllerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Methods: 71 children (three females and 68 males) with a median age of 1.08 years (range: 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an addition...

ea0027p40 | (1) | BSPED2011

Gonadal failure in children with acute lymphoblastic leukaemia treated by bone marrow transplantation: prevalence and risk factors

Burrani Huda , Shaikh M Guftar , Ewins Anna Maria , Gibson Brenda , Donaldson Malcolm

Background: Gonadal failure is a well-recognized long-term complication of bone marrow transplantation (BMT) in children with acute lymphoblastic leukemia (ALL). Identifying key risk factors is helpful in planning and counselling for hormone replacement therapy (HRT) and in targeting future research.Objectives: To determine the prevalence and risk factors for primary gonadal failure (PGF) in childhood ALL treated with BMT in a single centre.<p class=...

ea0051p018 | Gonadal, DSD and reproduction | BSPED2017

Single centre experience of testosterone therapy for boys with delayed puberty

Lucas-Herald Angela , Mason Eliot , Beaumont Paula , Mason Avril , Shaikh M Guftar , Wong Sze Choong , Ahmed S Faisal

Introduction: Delayed puberty is a common indication for referral to paediatric endocrine services. Although guidelines exist for management of testosterone replacement in adults, currently it is not clear what the optimum regimen for testosterone therapy is for children or how best to monitor boys throughout treatment.Aims: To identify the characteristics of testosterone therapy in boys referred for delayed puberty.Methods: Retros...

ea0033p69 | (1) | BSPED2013

Congenital nasal pyriform aperture stenosis and pituitary abnormalities: case series of 20 patients and a management guideline for early identification of pituitary insufficiency

Chen Suet Ching , McDevitt Helen , Clement W Andrew , Wynne David M , Ahmed S Faisal , Shaikh M Guftar

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.Method: Retrospective casenote ...

ea0033p77 | (1) | BSPED2013

Urinary gonadotrophins: role in assessment and management of disorders of puberty

Lucaccioni Laura , McNeilly Jane D , Mason Avril , Shaikh M Guftar , Giacomozzi Claudio , Iughetti Lorenzo , Ahmed S Faisal

Introduction: With improvements in assays and the increasing need for non-invasive, out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (UG) for assessing pubertal progress. This study aims to establish the correlation between serum and urinary LH and FSH in patients undergoing investigation or management of pubertal disorders.Methods/design: Retrospective evaluation of eight patients undergoing investigatio...