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47th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Cardiff, UK
27 Nov 2019 - 29 Nov 2019

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BSPED 2019, 27 - 29 November 2019; Cardiff, UK


Oral Communications 4

ea0066oc4.1 | Oral Communications 4 | BSPED2019

Mortality after childhood growth hormone treatment in the UK – the SAGhE study

Cooke Rosie , Swerdlow Anthony , Clayton Peter , Tollerfield Sally , Butler Gary

Background: Recombinant human growth hormone (r-hGH) has been used for more than 30 years and indications for r-hGH have multiplied worldwide. There has been concern that it might raise mortality, but published data are limited.Methods: The cohort comprised of 3902 UK patients over 18 years of age in 2009, treated with childhood r-hGH at all the major UK growth centres. The total European cohort was 24 232 from eight countries (including the UK), with > ...

ea0066oc4.2 | Oral Communications 4 | BSPED2019

Burosumab initiation in a UK XLH cohort: real-world use resonates with research evidence

Dharmaraj Poonam , Burren Christine , Cheung Moira , Padidela Raja , Mughal Zulf , Shaw Nick , Saraff Vrinda , Nadar Ruchi , Mushtaq Talat , Ramakrishnan Renuka , Senniappan Senith , Sakha Sophia , Barton John , Tucker Ian , Rayner Lauren , Arundel Paul , Gilbey-Cross Robyn , Tothill Alexander , Philip James , Sawoky Nadine , Connor Paul , Mathieson Leigh

Objectives: X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. We report relevant real-world biochemical data following the first 6 months of buros...

ea0066oc4.3 | Oral Communications 4 | BSPED2019

Defects in LGR4 Wnt-β-catenin signalling impair GnRH network development, leading to delayed puberty

Mancini Alessandra , Howard Sasha R , Cabrera Claudia P , Barnes Michael R , David Alessia , Wehkalampi Karoliina , Vassert Gilbert , Cariboni Anna , Garcia Maria Isabelle , Guasti Leonardo , Dunkel Leo

Background: The initiation of puberty is heralded by increasing gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. During embryonic life the GnRH neuroendocrine network develops thanks to a coordinated migration of neurons from the nasal placode to the forebrain. Our group has previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the population and is associated with adverse h...

ea0066oc4.4 | Oral Communications 4 | BSPED2019

A novel clinical risk score that accurately predicts recurrence of craniopharyngioma – a multicentre cohort study

Kyprianou Nikolina , Blackburn James , Tan Rachael , Korbonits Marta , Dattani Mehul , Dutta Pinaki , Bhansali Anil , Rai Ashutosh , Ribalta Teresa , Bulfamante Gaetano Pietro , Massa Valentina , Roncaroli Federico , Evanson Jane , Skoric Tanja , Kastelan Darko , Gnanalingham Kanna , Mitchell Rod , Bulfamante Antonio Mario , Argente Jesus , Goycoolea Andres , Torales Jorge , Biagetti Betina , Audi Laura , Resmini Eugenia , Webb Susan M , Kapoor Ritika R , Chandler Christopher , Sampron Nicolas , Preda Cristina , Ahmad Amar , Gevers Evelien F Pease , Gaston-Massuet Carles

Introduction: Craniopharyngiomas (CPs) are histologically benign tumours but are clinically associated with significant morbidity and mortality. Recurrence of CPs is known to influence mortality, but apart from the extent of surgical resection, no clinical characteristics have been shown to predict recurrence. Complete resection is difficult due to their infiltrative behaviour and unacceptable morbidity. Thus, predictors of risk of recurrence are needed....

ea0066oc4.5 | Oral Communications 4 | BSPED2019

Novel genetic defects in a cohort of Silver–Russell Syndrome (SRS) and SRS-like patients

Cottrell Emily , Ishida Miho , Moore Gudrun , Storr Helen L

Background: Silver-Russell Syndrome (SRS) is a clinically and genetically heterogenous condition. 40% patients with ‘clinical’ SRS remain without a genetic diagnosis despite fulfilling the Netchine-Harbison Clinical Scoring System (NH-CSS) criteria. There is increasing recognition of the wide range of clinical phenotypes within the SRS spectrum and overlap with other short stature syndromes.Methods: We analysed 26 undiagnosed patients with feat...

ea0066oc4.6 | Oral Communications 4 | BSPED2019

Understanding differences of sexual differentiation (DSD) MDT services across the UK; current service provision and sharing best practice

Eddy Danielle , Crowne Elizabeth , Alderson Julie , Skae Mars

Background: DSD services are evolving across the UK in response to both family, professional and societal pressures but MDT provision and access to specialist DSD services varies. In November 2017, DSD Clinical Standards were published by the BSPED Clinical Committee with the aim to improve and standardise DSD patient care and these were audited in March 2019. 95% of DSD centres responded with 85% listing psychology as part of their MDT.Aim: 1. To unders...

ea0066oc4.7 | Oral Communications 4 | BSPED2019

Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway

Chatterjee Sumana , Bertola Debora , Agwu Chizo , Karantza Maria , Cottrell Emily , Shapiro Lucy , Maharaj Avinaash V , Williams Jack , Savage Martin O , Gaston-Massuet Carles , Metherell Louise A , Storr Helen L

Objectives: Noonan Syndrome (NS) is an autosomal dominant multi-system disorder characterised by short stature (SS), distinctive facial features and cardiovascular abnormalities. Mutations in multiple genes regulating the RAS-MAPK pathway have been identified in NS including 5 recently described novel LZTR1 variants. We identified 2 novel LZTR1 variants in patients with features of growth hormone insensitivity and NS. The molecular function of LZTR1 ...

ea0066oc4.8 | Oral Communications 4 | BSPED2019

SGPL1 deficiency leads to accumulation of sphingolipid species and downregulation of key enzymes within the steroidogenic pathway

Maharaj Avinaash , Williams Jack , Guran Tulay , Braslavsky Debora , Casas Josefina , Metherell Louise , Prasad Rathi

Background: SGPL1 carries out the final degradative step of the sphingolipid pathway, irreversible cleavage of sphingosine-1-phopshate. SGPL1 deficiency is associated with a pathological accumulation of sphingolipid species and a multi-systemic condition incorporating primary adrenal insufficiency (PAI). Sphingolipid intermediates, ceramide and sphingosine are postulated to act as modulators of the steroidogenic pathway, acting as second messengers altering downstream expressi...

ea0066oc4.9 | Oral Communications 4 | BSPED2019

Health status of children aged 8–18 years with 21-hydroxylase deficiency in the United Kingdom: results of a multi-centre cohort study

Bacila Irina-Alexandra , Mahdi Sundus , Acerini Carlo L , Krone Ruth , Patel Leena , Alvi Sabah , Randell Tabitha , Gevers Evelien , Dattani Mehul , Cheetham Timothy , Kyriakou Andreas , Ryan Fiona , Crowne Elizabeth , Davies Justin H , Das Urmi , Ahmed S Faisal , Krone Nils

Introduction: There is limited knowledge on the impact of congenital adrenal hyperplasia (CAH) on the health and well-being of children and young persons (CYP). We aimed to establish the health status of CYP with CAH across the United Kingdom.Methods: We conducted a national multi-centre prospective study recruiting 107 patients aged 8–18 with 21-hydroxylase deficiency from 14 centres and 83 matched controls. Demographic, clinical, metabolic data, a...