Searchable abstracts of presentations at key conferences in endocrinology
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44th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

Oral Communications 5- Endocrine

ea0045oc5.1 | Oral Communications 5- Endocrine | BSPED2016

Effect of KRN23, a fully human anti-FGF23 monoclonal antibody, on rickets in children with X-linked hypophosphatemia (XLH): 40-week interim results from a randomized, open-label phase 2 study

Padidela Raja , van't Hoff William , Hogler Wolfgang , Portale Anthony , Imel Erik , Boot Annemieke , Linglart Agnes , Whyte Michael , Skrinar Alison , San Martin Javier , Carpenter Thomas

In XLH, high circulating FGF23 causes hypophosphatemia, rickets, and short stature. In our Phase 2 study, 52 XLH children (ages 5–12 years, ≤Tanner 2) were randomized to receive KRN23 subcutaneously biweekly (Q2W) or monthly (Q4W). Serum phosphate (Pi) was measured biweekly. KRN23 dose was titrated (maximum 2 mg/kg) targeting age-appropriate serum Pi concentrations.The first 36 subjects had a mean 6.6 years of standard-of-care treatment before...

ea0045oc5.2 | Oral Communications 5- Endocrine | BSPED2016

Functionally significant reductions in white matter in patients with congenital adrenal hyperplasia

Webb Emma , Elliott Lucy , Carlin Dominic , Wilson Martin , Hall Kirsty , Barrett Timothy , Salwani Vijay , Arlt Wiebke , Krone Nils , Peet Andrew , Wood Amanda

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems, reflecting an underlying effect on neural development. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abn...

ea0045oc5.3 | Oral Communications 5- Endocrine | BSPED2016

Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome

Prasad Rathi , Maharaj Avinaash , Meimaridou Eirini , van Veldhoven Paul , Buonocore Federica , Barbagelata Eliana , Bergada Ignacio , Cassinelli Hamilton , Das Urmi , Krone Ruth , Saleem Moin , Hacihamdioglu Bulent , Sari Erkan , Storr Helen , Achermann John , Guasti Leonardo , Braslavsky Debora , Guran Tulay , Ram Nanik , Metherell Lou

Background: Primary adrenal insufficiency (PAI) is most commonly congenital in children. PAI is genetically heterogeneous with some gene defects causing syndromic disease. A third of patients have no genetic diagnosis meaning their prognosis is uncertain. We recently investigated families with a novel combination of PAI and steroid resistant nephrotic syndrome.Objective and hypotheses: To discover the genetic defect underlying this syndrome.<p class=...

ea0045oc5.4 | Oral Communications 5- Endocrine | BSPED2016

Characteristics of Vitamin D supplementation programs for the prevention of rickets in infants and young children in Europe: Factors influencing compliance

Uday Suma , Kongjonaj Ardita , Tulchinsky Ted , Aguiar Magda , Hogler Wolfgang , ESPE ESPE

Introduction: Nutritional rickets is a growing public health concern in at-risk populations despite existing prevention programs and health policies.Aims: To compare infant and childhood vitamin D supplementation policies and strategies across Europe and explore factors influencing adherence.Methods: Representatives of the ESPE bone and growth plate working group and other experts in the field of infant vitamin D supplementation ac...

ea0045oc5.5 | Oral Communications 5- Endocrine | BSPED2016

The performance of early childhood Human Chorionic Gonadotrophin (HCG) testing to investigate male undervirilisation

van Geffen Joshua , Chinoy Amish , Ivison Fiona , Tetlow Lesley , Banerjee Indi

Background: The 3 day human chorionic gonadotrophin (HCG) test is commonly performed to investigate male undervirilisation. However, the utility of routine HCG testing for male undervirilisation in early childhood and correlation with pubertal progress is unclear.Aims: To review performance of the 3 day HCG test for diagnosis and outcomes.Methods: Standard 3 day HCG test data were analysed in 130 boys of age <3 years with under...

ea0045oc5.6 | Oral Communications 5- Endocrine | BSPED2016

Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant

Maharaj Avinaash , Buonocore Federica , Meimaridou Eirini , Cheetham Tim , Brain Caroline , Gray Ewan , Suntharalingham Jenifer , Striglioni Niccolo , Spoudeas Helen , Donaldson Malcolm , Achermann John , Metherell Lou

Background: CYP11A1 encodes the P450 side chain cleavage enzyme which initiates the steroidogenic cascade by conversion of cholesterol to pregnenolone. Severe (or classical) deficiency of this enzyme is characterised by disordered sexual differentiation in addition to adrenal and gonadal insufficiency. However partial loss-of-function mutations of CYP11A1 can present as isolated glucocorticoid deficiency (IGD). We describe 16 patients with both novel and know...

ea0045oc5.7 | Oral Communications 5- Endocrine | BSPED2016

Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop ‘True’ congenital hypothyroidism

Peters Catherine , Nicholas Adeline K. , Lyons Greta , Langham Shirley , Serra Eva G. , Schoenmakers Erik , Muzza Marina , Fugazzola Laura , Schoenmakers Nadia

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

ea0045oc5.8 | Oral Communications 5- Endocrine | BSPED2016

Understanding the Utility of Performing Endocrine & Genetic Investigations in Boys with a Suspected Disorder of Sex Development

Nixon Rachael , Cerqueira Vera , Kyriakou Andreas , Lucas-Herald Angela , McNeilly Jane , Diver Louise , Clelland Sharleene , Baird William , McMillan Martin , Purvis Andrew , Tobias Edward , McGowan Ruth , Ahmed Syed Faisal

Introduction: Evaluation of XY DSD requires a combination of endocrine and genetic tests. It is unclear whether these two sets of investigations should be performed stepwise or in parallel.Aims: The aim of the study was to document the range of endocrine and genetic abnormalities identified in all XY boys who were investigated at one specialist multidisciplinary service.Methods: Case records were reviewed to collect information fro...