Miscellaneous/other 2

ea0095p130 | Miscellaneous/other 2 | BSPED2023

Patient attendance in virtual paediatric and adolescent gynaecology clinics since the COVID-19 pandemic

Soundararajan Keerthana , Elder Charlotte

Introduction: The COVID-19 pandemic accelerated the execution of the 2019 NHS Long Term Plan with rapid introduction and widescale uptake of virtual consulting. While these are associated with lower Was Not Brought (WNB) rates, we observed that patients in our Paediatric and Adolescent Gynaecology (PAG) clinics were frequently absent, with parents (usually mothers) attending alone, unlike Face-To-Face (F2F) consultations, where the patients are always present....

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ea0095p131 | Miscellaneous/other 2 | BSPED2023

Hypernetwork analysis: A novel approach for epigenome analysis, with Kabuki syndrome as an exemplar

Martirosian Evgenii , Cuvertino Sara , Garner Terence , Walusimbi Bridgious , Kimber Susan , Banka Siddharth , Stevens Adam

Background/objectives: Kabuki Syndrome 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function of histone 3 lysine 4 mono-methyltransferase KMT2D. In addition, to neurodevelopmental features, some Kabuki Syndrome patients also exhibit endocrine-related phenotypes, such as hypoglycaemia. KMT2D is involved in global gene regulation, therefore, it is important to have a systems-based approach to understand pathomechanisms of KS1.<p class="abstext"...

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ea0095p132 | Miscellaneous/other 2 | BSPED2023

Initial accuracy and family experience evaluation of the Dexcom G7 continuous glucose monitor for hypoglycaemia due to hyperinsulinism

Worth Chris , Worthington Sarah , Ahmad Sumera , O'Shea Elaine , Salomon-Estebanez Maria , Banerjee Indraneel

Background: For children with congenital hyperinsulinism (HI), detection and avoidance of hypoglycaemia is the cornerstone of clinical management and poses significant demands on families. Standard of care remains intermittent fingerprick monitoring but the lack of predictive information has resulted in continuous glucose monitoring (CGM) increasing in popularity. Accuracy is suboptimal in this group and family feedback identifies various barriers to use. We a...

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ea0095p133 | Miscellaneous/other 2 | BSPED2023

Patient and public involvement: Techniques used to engage with children and young people about research in congenital adrenal hyperplasia

Tonge Joseph , Bacila Irina , Barker Nicki , Aslam Muniba , Salim Eliza , Walsh James , Phillips Bob , Krone Nils , Lawrence Neil

Background: Incorporating the ideas and views of children and young people (CYP) with endocrine conditions from early stages in the research life cycle will increase the benefit for patients and contribute to high impact research.Methods: We conducted two days of patient and public involvement (PPI) sessions with patients from a tertiary endocrine centre who are living with Congenital Adrenal Hypoplasia (CAH). We explore...

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ea0095p134 | Miscellaneous/other 2 | BSPED2023

Abstract withdrawn...

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ea0095p135 | Miscellaneous/other 2 | BSPED2023

Rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neuroendocrine tumors (ROHHADNET) syndrome: A case report

de Silva UAMD , Suntharesan J , Gunasekara B , Lakmini C , Atapattu N

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic, autonomic dys-regulation) syndrome is an uncommon disease with fatal outcome. Rapidly progressive obesity in early childhood along with altered hypothalamic and autonomic function and hypoventilation are characteristic features. Neuroendocrine tumors complicate approximately 40% of the ROHHAD cases (ROHHAD-NET). Early diagnosis of this extreme rare disease is hampered by the absence of...

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ea0095p136 | Miscellaneous/other 2 | BSPED2023

Aortic valve disease in two females with congenital hyperinsulinism due to activating GCK mutation

Alhusaini Fatemah , Dastamani Antonia , Gilbert Clare , Flanagan Sarah , Alhomaidah Doha , Morgan Kate

Introduction: Activating mutations of Glucokinase (GCK) gene are described as a rare genetic aetiology of Congenital Hyperinsulinism (CHI), which can cause variable disease severity. However, cardiac anomalies such as aortic valve disease have not been reported as a feature of this genetic form of CHI. We describe two patients diagnosed with GCK-CHI and aortic valve disease.Case 1: A twelve-month-old female presented at ...

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Endocrine Abstracts

50th Annual Meeting of the British Society for Paediatric Endocrinology and Diabetes

Poster Presentations

Patient attendance in virtual paediatric and adolescent gynaecology clinics since the COVID-19 pandemic

Hypernetwork analysis: A novel approach for epigenome analysis, with Kabuki syndrome as an exemplar

Initial accuracy and family experience evaluation of the Dexcom G7 continuous glucose monitor for hypoglycaemia due to hyperinsulinism

Patient and public involvement: Techniques used to engage with children and young people about research in congenital adrenal hyperplasia

Rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neuroendocrine tumors (ROHHADNET) syndrome: A case report

Aortic valve disease in two females with congenital hyperinsulinism due to activating GCK mutation

BiosciAbstracts