Searchable abstracts of presentations at key conferences in endocrinology

ea0078p15 | Diabetes | BSPED2021

Patient experience of home and drive through HbA1c measurement during the COVID 19 pandemic

Akere Oluwatobi , Pupla Enada , Datta Vipan , Alanoor Ravi , Veltmann Jo-Anne , Lee Suzanne , Mower Jo , Rix Heather , Fear Louisa , Stubbs Faye , Howell Kris , Derisley Jo , John Garry , English Emma , Webb Emma A

Background: Prior to COVID-19, HbA1C was performed in clinic as a point of care test. As a service development project driven by the changes to our service from COVID-19 we offered either a hospital drive through point of care HbA1C test or the validated VAMS collection method to obtain HbA1C at home.Objective: Research ethics approval was obtained to assess patient/carer acceptability of these collection methods.Methods: Drive thr...

ea0078p16 | Diabetes | BSPED2021

Children and young people with type one diabetes and their families experience of remote clinics

Thirunavukkarasu J , Datta Vipan , Alanoor Ravi , Veltmann Jo-Anne , Lee Suzanne , Mower Jo , Rix Heather , Fear Louisa , Stubbs Faye , Howell Kris , Derisley Jo , John Garry , English Emma , Webb Emma A

Background: Children and young people (CYP) with Type 1 diabetes are offered 4 face to face appointments annually. During the COVID-19 pandemic these were delivered virtually.Objective: We conducted a survey to assess patient and carer satisfaction with the remote diabetes service. Methods: Research ethics approval was obtained. The survey was distributed to 280 CYP and their families; one response per family was collected. Data on...

ea0066p27 | Diabetes 2 | BSPED2019

Observational Study looking at the Impact of changing from novorapid to insulin aspart on glycaemic control in the clinic setting

Datta Vipan , Alanoor Ravi , Stubbs Faye , Webb Emma

Introduction: The first multi-center randomised trial looking at the efficacy and safety of Insulin Aspart, a faster acting insulin which aims to mimic endogenous prandial insulin action, was published in May 2019. We report our experience of using Insulin Aspart in the Norfolk and Norwich University Hospital childrenÂ’s diabetes clinic.Methods: Children and young people with type 1 diabetes seen the Norfolk and Norwich paediatric diabetes service (t...

ea0027p19 | (1) | BSPED2011

Mutations in the Sonic Hedgehog signalling pathway in patients with congenital hypopituitarism

Gregory Louise C , Webb Emma A , Panagiotakopoulos Leo , Dattani Mehul T

Introduction: The Gli-family of zinc-finger transcription factors regulates the Sonic Hedgehog (Shh) signalling pathway, critical for normal CNS development. Gli2 is essential for early pituitary and ventral forebrain development in mice, with mutations described in humans with holoprosencephaly (HPE), isolated hypopituitarism (HP) and cranial/midline facial defects. SHH mutations have been associated with phenotypes including HPE but not HP, despite murine studi...

ea0027p22 | (1) | BSPED2011

What does prolactin measurement add to the evaluation of pituitary hormone function?

Webb Emma , Lazze Pietro , Reddington Carly , Dattani Mehul

Background: Prolactin concentration is frequently measured as part pituitary function assessment, however there is little published data regarding result interpretation.Objective: To compare serum prolactin concentrations in children with isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD) and septo-optic dysplasia (SOD).Methods: Patients were assigned to the appropriate study group based on the results of t...

ea0078OC6.5 | Oral Communications 6 | BSPED2021

Highlighting POLE1 mutations as a cause of adrenal insufficiency

Dhamodaran Madhuvanthi , Dyke Mark , Walston Florence , Booth David , Andrews Katrina , Armstrong Ruth , Webb Emma

Background: Compound heterozygous POLE1 mutations have previously been described as a cause of IMAGe syndrome. The severity of the adrenal insufficiency (AI) at initial presentation has been a subject of ongoing debate. Case report: At 22 weeks gestation the probandÂ’s mother was referred to paediatric endocrinology for low oestriol on antenatal quadruple testing. The pregnancy was complicated by severe growth restriction leading to emergency caesare...

ea0051oc8.1 | Oral Communications 8 | BSPED2017

Hydrocortisone tablets: human factors in manipulation and their impact on dosing accuracy

Webb Emma A , Watson Cameron , Kerr Stephanie , Davies Justin H , Stirling Heather , Batchelor Hannah

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. An age-appropriate low dose hydrocortisone formulation is not available therefore manipulation a 10 mg tablet is required with potential for inaccurate dosing.Aims: To assess the variability in manipulation procedures recommended by healthcare professionals and undertaken by parents/carers. To quantify the dose-variabil...

ea0066oc8.2 | Oral Communications 8 | BSPED2019

Adrenal Insufficiency: hydrocortisone prescribing and sick day rules

Webb Cameron , Stirling Heather , Kerr Stephanie , Davies Justin , Batchelor Hannah , Webb Emma

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. Historically and age-appropriate hydrocortisone formulation has not been available. Adrenal crisis is associated with significant morbidity and mortality.Aims: To assess prescribing practice for oral hydrocortisone and sick day advise across the UK.Methods: Paediatric endocrinologists and parents[...

ea0023oc3.4 | Oral Communications 3 | BSPED2009

Severe midline abnormalities result in a distinct spectrum of endocrinopathies: implications for genetic diagnosis and follow-up

Alatzoglou Kyriaki S , Mehta Ameeta , Webb Emma A , Hindmarsh Peter C , Dattani Mehul T

Background: Holoprosencephaly (HPE) is a brain malformation that results from a defect in the patterning of the forebrain. Children with the most severe forms of HPE have endocrine deficits, in addition to neurologic and visual impairment. Forebrain abnormalities and pituitary hormone deficiencies are also part of the clinical spectrum of septo-optic dysplasia (SOD).Aim: Describe the spectrum of endocrinopathies in children with HPE and compare their cha...

ea0023oc3.6 | Oral Communications 3 | BSPED2009

Melatonin secretion in children with sleep disturbance and septo-optic dysplasia

Webb Emma A , Reilly Michelle O , Orgill Jane , Dale Naomi , Salt Alison , Gringras Paul , Dattani Mehul

Introduction: A previous case-report described one individual whose significant sleep disturbance in association with septo-optic dysplasia (SOD) was corrected with melatonin administration. Subsequently a trial of melatonin treatment in children with SOD and sleep disruption has become accepted clinical practice in many centres. There are however no published data describing melatonin secretion in these individuals.Methods: We studied six children with ...