hrp0095p2-210 | Multisystem Endocrine Disorders | ESPE2022

Glucose dysregulation and Diabetes mellitus in ROHHAD syndrome - possibly centrally driven?

Hawton Katherine , Candler Toby , Hamilton-Shield Julian , Giri Dinesh

Background: Rapid-onset obesity with hypothalamic dysregulation, hypoventilation and autonomic dysregulation (ROHHAD) is a rare syndrome with a high risk of morbidity and mortality. Blood glucose dysregulation is not widely recognised as a feature of ROHHAD and the mechanism is not well understood. We describe glucose dysregulation in two children with ROHHAD syndrome.Case 1: The patient presented at 6 years with rapid w...

hrp0086p2-p506 | Fat Metabolism and Obesity P2 | ESPE2016

Long Term Outcomes after Hospital Based, Life-Style Weight Loss Intervention During Childhood

Candler Toby , Wei Christina , Crowne Elizabeth , Shield Julian

Background: Weight loss interventions for obesity have shown variable short-term effects in adolescents and children, but data on longer-term benefits are sparse.Aim: To describe longer-term impact of lifestyle weight loss interventions in adolescent obesity.Method: Obese subjects previously underwent lifestyle weight loss interventions at a hospital-based clinic were invited to participate in metabolic re-assessment. Outcome measu...

hrp0086p2-p796 | Pituitary and Neuroendocrinology P2 | ESPE2016

Severe Juvenile Hypertrophy of the Breast with Hypercalcaemia; Mastectomy v’s Reduction Surgery

McGregor David , Candler Toby , Selby Georgina , Crowne Liz , Rayter Zenon

Background: A 10 year old girl with a background history of severe autism and developmental delay presented with significant and rapidly progressive asymmetrical breast enlargement accompanying her relatively rapid progress through puberty. There was associated tissue breakdown exacerbating her discomfort and leading to increasing problems with anxiety and behaviour.Objective and hypotheses: To explore the aetiology of the huge breast development and the...

hrp0092p1-123 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Does the Internet Provide Accurate and Valid Health Information Regarding Disorders of Sex Development?

Candler Toby , Hough Amy , Hamilton-Shield Antonia , Alderson Julie , Crowne Elizabeth

Background: The internet provides a multitude of health information. Understanding disorders/differences of sex development (DSD) can be difficult for families partly due to their complexity and relatively low prevalence. Consequently, families may use the internet to gain understanding of their child's condition, however the quality of this information has not been formally assessed.Aims: To assess the quality, vali...

hrp0089rfc3.6 | Diabetes and Insulin 1 | ESPE2018

Treatment Adherence and Weight Loss are Key Predictors of HbA1c One Year after Diagnosis of Childhood Type 2 Diabetes in UK

Candler Toby , Mahmoud Osama , Lynn Richard , Majbar Abdalmonem , Barrett Timothy , Shield Julian PH

Background: Type 2 Diabetes (T2DM) is increasing in childhood especially among females and South-Asians.Objective: To report outcomes from a national cohort of children and adolescents with T2DM 1-year post diagnosis.Subjects and Methods: Clinician reported 1-year follow-up of a cohort of children (<17 years) with T2DM reported through British Paediatric Surveillance Unit (April 2015┬ľApril 2016). This followed the same met...

hrp0086p1-p203 | Diabetes P1 | ESPE2016

Diabetes Mellitus Caused by Bone Marrow Transplantation and Total Body Irradiation – Experience from a Regional Single Centre

Candler Toby , Wei Christina , Bradley Karin , Cox Rachel , Elson Ruth , Stevens Michael , Crowne Elizabeth

Background: Diabetes is a recognised long term sequelae in childhood cancer survivors following bone marrow transplantation and total body irradiation (BMT/TBI), due to a combination of insulin deficiency and resistance.Aim: To characterise presentation, treatment and clinical course of diabetes in childhood leukaemia survivors post BMT/TBI.Method: A single centre retrospective case note review of diabetes post BMT/TBI identified f...

hrp0094p1-195 | Thyroid B | ESPE2021

DNA Methylation at a nutritionally sensitive region of the PAX8 gene is associated with thyroid volume and function in Gambian children

Candler Toby , Kessler Noah , Gunasekara Chathura , Ward Kate , James Phil , Dyer Roger , Elango Rajavel , Waterland Robert , Moore Sophie , Ludgate Marian , Prentice Andrew , Silver Matt ,

Background: Thyroid hormones contribute to a wide range of physiological processes and health outcomes. Epigenetic regulation of thyroid development and function has been little explored. PAX8 (Paired Box 8) is a thyroid transcription factor implicated in thyroid gland development and differentiation. PAX8 gene methylation appears to be sensitive to the environment in early pregnancy.Methods and Findings: Using a recall-by-epige...

hrp0097rfc4.6 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Results from the PROPEL 2 dose-finding study: oral infigratinib leads to significant increases in height velocity with good tolerability in children with achondroplasia

Savarirayan Ravi , Maria De Bergua Josep , Arundel Paul , Pierre Salles Jean , Saraff Vrinda , Delgado Borja , Leiva-Gea Antonio , McDevitt Helen , Nicolino Marc , Rossi Massimiliano , Salcedo Maria , Cormier-Daire Valerie , Skae Mars , Kannu Peter , B. Bober Michael , Phillips III John , Saal Howard , Harmatz Paul , Burren Christine , Candler Toby , Cho Terry , Muslimova Elena , Weng Richard , Raj Supriya , Hoover-Fong Julie , Irving Melita , Rogoff Daniela

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...