Endocrine Abstracts

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...

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...

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...

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...

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...

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...

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=...

Introduction: Thyroid cancers are the most common endocrine cancer among children, accounting for 0.5–3% of all childhood malignancies. Thyroid carcinogenesis is well established in Multiple Endocrine Neoplasia syndromes type 2, and may present with medullary thyroid cancer at young age. However, with the advancement of genetics, several other syndromes need to be considered which may lead to non-medullary thyroid cancers including DICER1 tumour predispos...

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...

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 ...