hrp0095p1-7 | Adrenals and HPA Axis | ESPE2022

Management of mineralocorticoid deficiency in Congenital Adrenal Hyperplasia – a single centre study

Shan Queenie See Wing , Alexander Ashley , Katugampola Harshini , Atterbury Abigail , Tollerfield Sally , Dattani Mehul

Introduction: Glucocorticoid replacement has been the main focus of research in congenital adrenal hyperplasia (CAH). However, few studies have focused on mineralocorticoid replacement.Aim: Evaluation of mineralocorticoid replacement in a large cohort (n=124) with CAH recruited retrospectively over a 10-year (2010-2020) period.Methods: We recruited 124patients (71female, 5...

hrp0095p1-146 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Spectrum of Endocrinopathy in Children with Ectopic Posterior Pituitary (EPP)

Malhotra Neha , Amin Arliena , Cerbone Manuela , Bosch Laura , Tollerfield Sally , Atterbury Abigail , Katugampola Harshini , Dattani Mehul

Introduction: Ectopic posterior pituitary (EPP) is a radiological diagnosis likely caused by a migration defect that occurs during pituitary development. We aim to describe the clinical characteristics and hormonal deficiencies seen in patients with EPP.Method: Longitudinal observational study performed in a single [HK1] [NM2] centre from 1993-2020. As per MRI findings, cases were divided into three cohorts 1) C1: EPP on...

hrp0082p2-d2-274 | Adrenals & HP Axis (1) | ESPE2014

Severe 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia and Congenital Hypothyroidism Due to Thyroglobulin Mutations in a Single Family: Two Distinct Genetic Disorders with Phenotypic Variability within a Single Family

Ponmani Caroline , Atterbury Abigail , Seniappan Senthil , Schoenmakers Nadia , Nicholas Adeline K , Chatterjee Krishna , Dattani Mehul

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Objective and hypotheses: We report a kindred with three siblings born to unrelated parents manifesting with two different forms...

hrp0094p2-150 | Diabetes and insulin | ESPE2021

PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 (Covid-19)] in a child with new onset type 2 diabetes

Sakka Sophia , Mohan Meena , Price Abigail , Handforth Jennifer , Wong James , Nyman Andrew , Ponmani Caroline ,

Introduction: PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2] is a unique clinical complication of COVID -19 infection in paediatric patients. We report a case of a child presenting with PIMS-TS and new onset type 2 diabetes.Presentation: A previously healthy 15 year old boy of Bengali-Indian origin presented to the hospital with polyuria, polydipsia, dry cough, abdominal pain and 1 episode of...

hrp0094p1-133 | Growth Hormone and IGFs A | ESPE2021

Efficacy and safety profile of recombinant insulin like growth factor 1 (rh IGF1) therapy: A long term follow up study at a single tertiary centre.

Aftab Sommayya , Prentice Philippa , Katugampola Harshini , Tollerfield Sally , Atterbury Abigail , Shah Pratik , Peters Catherine , Gevers Evelien , Dattani Mehul ,

Background & Objective: Recombinant human insulin like growth factor 1 (rhIGF1) therapy is the only treatment available for primary IGF1 deficiency and related disorders. However, itÂ’s efficacy in promoting growth is controversial and needs cautious monitoring for adverse effects. The aim of this study was to determine the long-term efficacy and safety profile of rhIGF1 therapy.Methods: Retrospective review of a...

hrp0097lb13 | Late Breaking | ESPE2023

Low-Dose Liraglutide-Induced Acute Kidney Injury and Hepatocellular Disorder in an Adolescent Patient

Wittenberg Avigail , Komargodski Rinat , Rachmiel Marianna

Background: Liraglutide (SAXENDA®) is a glucagon-like peptide 1 (GLP-1) receptor agonist approved as an adjunct for chronic weight management in combination with a reduced-calorie diet and increased physical activity. Previous case reports have suggested an association between liraglutide use and acute kidney injury in adults, particularly at maintenance doses of 1.2 mg/day or higher. However, there is less data on the impact of liraglutide in the adolesce...

hrp0095p1-449 | Diabetes and Insulin | ESPE2022

Do-It-Yourself Artificial Pancreas Systems in a PediatricPopulation with Type 1 Diabetes in a Real-life Setting: The AWeSoMe Study Group Experience

Nir Judith , Rachmiel Marianna , Fraser Abigail , Lebenthal Yael , Brener Avivit , Pinhas-Hamiel Orit , Haim Alon , Stern Eve , Levek Noa , Ben-Ari Tal , Landau Zohar

Aims: Do-It-Yourself Artificial Pancreas Systems (DIYAPS) represent a unique patient-initiated treatment in which commercially available and approved medical devices such as continuous glucose monitoring systems (CGMs) and insulin pumps are connected by an off-label algorithm, and are remotely controlled by open-source algorithms to automate insulin delivery. While these systems are co-created by the DIYAPS community, and access is open to everyone, users have...

hrp0094p2-30 | Adrenals and HPA Axis | ESPE2021

Development of a novel weight-based steroid emergency plan for patients with Duchenne Muscular Dystrophy

Tollerfield Sally , Atterbury Abigail , Antell Hannah , Craig Sian , Smith Natalie , Sarkozy Anna , Manzur Adnan , Hoskins Steve , Amin Rakesh , Dattani Mehul , Katugampola Harshini ,

Background: Long-term glucocorticoid therapy with Prednisolone or Deflazacort has improved outcomes in patients with Duchenne Muscular Dystrophy (DMD), however recommended dosages suppress the hypothalamic-pituitary-adrenal axis, leading to adrenal insufficiency. All boys prescribed glucocorticoid therapy should be assumed to have adrenal suppression, and therefore at risk of adrenal crisis during illness or stress (eg. surgery, bisphosphonate infusions). The ...

hrp0094p1-170 | Growth B | ESPE2021

Facilitating Telehealth In A Tertiary Paediatric Endocrine Service: A Quality Improvement Initiative To Reduce The Discrepancy Between Parent-reported And Auxologist Height Measurements

McGlacken-Byrne Sinead M , Alexander Ashley , Tollerfield Sally , Atterbury Abigail , Antell Hannah , Mead Victor , Dastamani Antonia , Peters Catherine , Gan Hoong Wei , Amin Rakesh , Dattani Mehul T , Hoskins Steve , Katugampola Harshini ,

Background: The COVID-19 crisis required paediatric endocrinologists to rapidly adopt telehealth into their clinical practice. Accurate auxology is a cornerstone of paediatric endocrinology care and is needed to monitor growth and guide medication changes. Remote consultations depend upon parent-reported measurements. However, home height measurements are often inaccurate.Aim: We designed a quality improvement study with...

hrp0098fc5.3 | Growth and Syndromes | ESPE2024

Gene expression of monosomy × during human development reveals potential mechanisms in Turner syndrome

Suntharalingham Jenifer , Del Valle Ignacio , Buonocore Federica , McGlacken-Byrne Sinead , Brooks Tony , Ogunbiyi Olumide , Liptrot Danielle , Dunton Nathan , Madhan Gaganjit , Metcalfe Kate , Nel Lydia , Marshall Abigail , Ishida Miho , Sebire Neil , Moore Gudrun , Crespo Berta , Solanky Nita , Conway Gerard , Achermann John

Background: Monosomy × (45,X) is associated with Turner syndrome (TS) and pregnancy loss; however, the underlying mechanisms remain unclear. Girls and young women with TS/45,X can present with diverse clinical features and at different ages, including early postnatal life, suggesting that at least some mechanisms may be defined during early fetal development.Aims: To explore transcriptomic expression profiles in ke...