hrp0086fc11.6 | Thyroid | ESPE2016

Too many TFTs? A Change in Neonatal Thyroid Function Testing in a Peripheral Hospital in Ireland

Collins Aedin , Geoghegan Aisling , Johnston Niall , Carroll Aoife , Fitzsimons John

Background: Thyroid disorders in the neonatal period can have serious consequences for growth and development. Neonatal bloodspot screening identifies congenital hypothyroidism. Current guidelines both internationally and in tertiary centres in Ireland have moved towards checking thyroid function tests (TFTs) solely in infants of mothers with hyperthyroidism and those identified on neonatal bloodspot screening. The practice in OLOLH, Ireland was that all infants of mothers wit...

hrp0082p1-d3-57 | Bone (1) | ESPE2014

No Correlation Between 25OHD Status and Pro or Anti-Inflammatory Cytokines in Obese Children and Normal Weight Controls

Carroll Aoife , Onwuneme Chike , McKenna Malachi , Mayne Philip , Molloy Eleanor

Background: While the primary function of vitamin D relates to calcium and bone metabolism, it is now recognised that vitamin D is a potent immunomodulator. In vitro, 1,25(OH)2D has been shown to suppress pro-inflammatory cytokines, such as TNF-α and IL6, while up regulating synthesis of anti-inflammatory cytokines, IL10 and IL4. Previous in vitro studies have yielded inconsistent results on the relationship between 25OHD and cytokines in adul...

hrp0082p2-d3-481 | Hypoglycaemia | ESPE2014

Presentation, Clinical and Genetic Outcomes in a Series of Infants With Congenital Hyperinsulinism

Carroll Aoife , Gibney Brian , McDonnell Ciara , Moloney Sinead , Monavari Ardeshir , Murphy Nuala

Background: Congenital hyperinsulinism (CHI) is a rare condition but a significant cause of recurrent hypoglycaemia in infancy and childhood. Prompt recognition and appropriate management is important to avoid long-term neurological sequelae.Objective and hypotheses: To describe the presentation, clinical and genetic outcomes in a series of infants with CHI.Method: Retrospective case series of 35 patients diagnosed with CHI between...

hrp0082p3-d3-748 | Diabetes (4) | ESPE2014

Monogenic Diabetes in a Paediatric Population: Finding the Needle in the Haystack

Mavinkurve M , Johnston N , Carroll A , Donnell C Mc , Byrne M M , Murphy N P

Background: Ireland has a high incidence of type 1 diabetes in childhood (16.8/100, 000 per year (1). A small percentage of children with diabetes have maturity onset diabetes of the young (MODY) (2). Establishing the correct diagnosis is critical to optimal therapy and future genetic counselling (3).Objective and hypothesis: To review the cohort of children attending our tertiary diabetes service and describe the clinical features of those where MODY wa...

hrp0084p2-289 | Diabetes | ESPE2015

Longitudinal Study of Irish Children and Adolescents on Continuous Subcutaneous Insulin Infusion

Bohane Mary-Ellen , McGrath Niamh , Carroll Aoife , Devenney Dympna , McDonnell Ciara , Murphy Nuala

Background: Early establishment of good metabolic control with intensive insulin therapy can reduce the incidence and delay the progression of complications in type 1 diabetes (T1D) mellitus.Objective and hypotheses: To investigate the long-term outcomes of all children and adolescents started on continuous subcutaneous insulin infusion or pump therapy in our tertiary centre.Method: All children with T1D who started on continuous s...

hrp0082ha1 | Deciphering the functional mechanisms by which MKRN3 regulates puberty initiation | ESPE2014

Deciphering the Functional Mechanisms by which MKRN3 Regulates Puberty Initiation

Abreu Ana Paula , Navarro Victor , Bosch Martha , Liang Joy , Macedo Delanie , Simavli Serap , Noel Sekoni , Thompson Iain , Ronnekleiv Oline , Carroll Rona , Latronico Ana Claudia , Kaiser Ursula

Background: We recently identified loss-of-function mutations in makorin ring finger 3 (MKRN3) as a cause of familial central precocious puberty (CPP). Analysis of Mkrn3 expression in the arcuate nucleus of mice showed high expression levels in juvenile mice, with a marked reduction prior to puberty onset, suggesting that MKRN3 inhibits puberty initiation. The function of MKRN3 is not known but based on its amino acid sequence, it is predicted to act as an ubiquitin l...

hrp0094p1-8 | Adrenal A | ESPE2021

Long-term Cardiometabolic Morbidity In Young Adults With Classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Righi Beatrice , Ali Salma R , Bryce Jillian , Tomlinson Jeremy W , Bonfig Walter , Baronio Federico , Costa Eduardo C , Filho Guilherme Guaragna , T’Sjoen Guy , Cools Martine , Markosyan Renata , Bachega Tania A S S , Miranda Mirela C , Iotova Violeta , Falhammar Henrik , Ceccato Filippo , Stancampiano Marianna R , Russo Gianni , Vukovic Rade , Giordano Roberta , Mazen Inas , Guven Ayla , Darendeliler Feyza , Poyrazoglu Cukran , Vries Liat de , Ellaithi Mona , Daniel Eleni , Johnston Colin , Hunter Steven J , Carroll Paul V , Adam Safwaan , Perry Colin G , Kearney Tara , Abraham Prakash , Rees D Aled , Leese Graham P , Reisch Nicole , Stikkelbroeck Nike M M L , Auchus Richard J , Ross Richard J , Ahmed S Faisal ,

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...