Searchable abstracts of presentations at key conferences in endocrinology

ea0078OC8.4 | Oral Communications 8 | BSPED2021

Developing a clinical decision aid for paediatric diabetic ketoacidosis: the DKA Calculator

Leach Daniel , Barton John

Diabetic Ketoacidosis (DKA) is a significant complication of paediatric diabetes, the effective management of which relies on meticulous calculations, and timely decision making in response to changing physiology. A previous regional audit in South West England has shown that compliance with national guidelines is highly variable, and errors in calculations such as fluid rates are common. Fluid management in paediatric DKA is a subject of ongoing debate and changing guidance. ...

ea0066p68 | Learning from Mistakes and Miscellaneous | BSPED2019

Mitochondrial disorders and endocrine dysfunction

Venkataramakrishnan Ramya , Barton John

Mitochondrial disorders are the result of mitochondrial respiratory chain dysfunction and caused by mutations of genes encoded by the nuclear or the mitochondrial DNA. They affect approximately 1 in 5000 of the population and are the most common group of inborn errors of metabolism. Most of them involve multiple organ systems with predominant central nervous system features including ptosis, external ophthalmoplegia and sensorineural hearing loss.Introdu...

ea0039ep105 | Pituitary and growth | BSPED2015

Childhood somatotroph pituitary adenomas due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations

Coxson Edward , Barton John , Dang Mary , Korbonits Marta , Burren Christine

Introduction: Two childhood cases of somatotroph pituitary adenomas caused by aryl hydrocarbon receptor interacting protein (AIP) mutations highlight the importance of screening for familial isolated pituitary adenoma (FIPA) genes and wider family implications.Case 1: A 13.5-year-old girl presented with 5 years growth acceleration and size ten feet, with no headache or visual disturbance. Examination: coarse facial features, large hands and feet...

ea0036P48 | (1) | BSPED2014

Initial care of babies born with ambiguous genitalia: a service evaluation

Wijeyaratne Lihini , Burren Christine , Barton John , Crowne Elizabeth

Introduction: Disorders of sex development (DSD) may present in the newborn as ambiguous genitalia. Gender determination and diagnosis must occur as quickly as possible to minimise parental distress. Aim: to evaluate the initial care of babies born with DSD, and identify areas for improvement.Methods: Detailed assessment of 14 neonatal presentations at a tertiary centre between 2012 and 2014 was undertaken. Based on local trust guidelines, several parame...

ea0058oc5.6 | Oral Communications 5 | BSPED2018

Successes and challenges around cohorted introduction of Burosumab in clinical treatment of X-linked hypophosphataemia (XLH)

Tucker Ian , Burren Christine , Barton John , Crampton Rachel

Background: Burosumab (a monoclonal antibody inhibiting elevated FGF23 activity) targets the pathophysiology of XLH better than conventional phosphate and activated Vitamin D and shows encouraging research findings. Whilst marketing authorisation underway, enrolment into a Named Patient Scheme was possible. Delivery of new treatment modalities can present practical challenges. We report our experience of initiating the first UK cohort.Methods: Seven pati...

ea0039ep117 | Pituitary and growth | BSPED2015

Brain or the kidneys? Nephrogenic Diabetes Insipidus with loss of Pituitary brightness on MRI.

Naufal Buhary Mohamed , Kumar Yadlapalli , Cuthell Oliver , Crowne Liz , Saleem Moin , Barton John

A 6 month boy with chronic vomiting and severe weight faltering (birth weight 50th to 75th centile dropped to 0.4th centile) originally attributed to gastro-oesophageal reflux was admitted after a period of poor urine output and found to have severe hypernatraemia (Na 168 mmol/l, K 4.1 mmol/l, Urea 16.2 mmol/l, Creatinine 54 umol/l) with high plasma osmolality (330 mosm/kg) and inappropriately low urine osmolality (130 mOsm/Kg). Renal USS was normal with slightly small kidneys...

ea0036P7 | (1) | BSPED2014

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a regional cohort 1994–2004: characterisation and genotype–phenotype analysis

Warner Bronwen , Prasad Rathi , Barton John , Burren Christine , Henchliffe Jennifer , Crowne Liz

Congenital adrenal hyperplasia (CAH) has an estimated prevalence of one in 10 000–20 000 live births. Patients are described as salt wasting (SW), simple virilising (SV), or non-classical (NC). The CAH genotype is usually compound heterozygous.Aims: To characterise the cohort of CAH patients presenting to a regional centre 1994–2014, to quantify the allelic frequency of CYP21A2 mutations and to examine genotype–phenotype associations.<...

ea0033p78 | (1) | BSPED2013

How to improve the “gold standard” – the insulin tolerance test (ITT) revisited

Daskas Nikolaos , Bowron Ann , Burren Christine , Woldersdorf Wolf , Barton John , Crowne Elizabeth

Background: The ITT has been said to be the gold standard for diagnosing GH deficiency (GHD) for 50 years. The original 0, 20, 30, 60, 90 and 120 min time points are still used in many but a survey of current UK paediatric ITT protocols identified several variations.Objective and hypotheses: To identify optimal GH sampling time points to avoid over diagnosis of GHD.Methods: Results of 502 paediatric ITTs using two different samplin...

ea0044p241 | Thyroid | SFEBES2016

Contrasting phenotypes in Resistance to Thyroid Hormone α correlate with divergent properties of thyroid hormone receptor α1 mutant proteins

Moran Carla , Agostini Maura , McGowan Anne , Schoenmakers Erik , Fairall Louise , Lyons Greta , Rajanayagam Odelia , Watson Laura , Offish Amaka , Barton John , Price Susan , Schwabe John , Chatterjee Krishna

Resistance to Thyroid Hormone alpha (RTHα) is characterised by tissue-selective hypothyroidism with near-normal thyroid function tests, and is due to thyroid receptor α gene mutations. We sought to correlate the clinical characteristics and response to thyroxine treatment of two RTHα patients with the properties of their defective TRα proteins.Clinical, biochemical and physiological parameters were assessed in each patient at baseline...

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...