hrp0086p1-p236 | Diabetes P1 | ESPE2016

Does Adherence to a High HbA1c Policy Improve Outcomes in a Paediatric Diabetic Clinic Population?

Beckett Rachel , Abid Noina

Background: Poor glycaemic control, indicated by a high HbA1c level, increases the risk of developing complications of type 1 diabetes. It is, therefore important to reduce HbA1c levels aiming for the new target outlined by NICE (2015) of 48 mmol/mol. To try and improve HbA1c levels in patients attending a large urban diabetic clinic a policy was developed, targeting patients with an HbA1c level of 64 mmol/mol or higher.Objective and hypotheses: To asses...

hrp0097p2-220 | Adrenals and HPA Axis | ESPE2023

A Case of Adrenal Suppression Secondary to Intranasal Betamethasone

McBay-Doherty Rhiannon , Abid Noina

Introduction: A 5 month old boy is admitted to his local hospital with increased work of breathing secondary to a viral upper respiratory tract infection. The admitting team found pubic hair on examination, with otherwise normal infant genitalia, prompting a screen for precocious puberty. A low random cortisol was found at 15nmol/L. Following this, he had an inadequate response to a Synacthen test (peak Cortisol 190 nmol/L) demonstrating adrenal insufficiency....

hrp0082p3-d2-890 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

A Novel Mutation Causing Pseudohypoaldosteronsim

Heffernan Emmeline , Abid Noina , McKee Shane

Background: We present a case of a neonate with life threatening hyponatraemia and hyperkalaemia, due pseudohypoaldosteronism, found to be caused by a novel mutation.Objective and hypotheses: An 8-day-old girl presented with a short history of poor feeding and vomiting. She was born at term, to consanguineous parents. She was severely shocked and required fluid resuscitation. She had profound hyponatraemia and hyperkalaemia. She was admitted to PICU with...

hrp0086p1-p893 | Thyroid P1 | ESPE2016

Resolution of Hepatic Hemangiomas and Consumptive Hypothyroidism in an Infant Treated with Propranolol and Levothyroxine

Campbell Victoria , Beckett Rachel , Abid Noina , Hoey Susannah

Infantile hepatic hemangiomas (IHH) particularly the diffuse subtype, can in severe cases be associated with hepatic and cardiac failure, compartment syndrome, and consumptive hypothyroidism. Early recognition and treatment of these pathologies is paramount in order to minimise the risk of longterm sequelae. Thyroid hormones are crucial for growth and neurodevelopment, with three to five IQ points lost for each month hypothyroidism remains untreated in the first year of life. ...

hrp0082p3-d3-656 | Autoimmune Endocrine Disease | ESPE2014

Two Cases of Thyroid Carcinoma in Children

Mitchell Bethany , Abid Noina , Eatock Fiona , Donnelly Deirdre

Background: Whilst thyroid carcinoma is rare in children, thyroid nodules in children have an increased risk of being malignant. Two 10-year-old patients with thyroid nodules presented to the Royal Belfast Hospital for Sick Children in December 2013.Objective and hypotheses: Illustration of sporadic and genetic presentations of thyroid carcinoma in children.Method: Presentation of two cases of thyroid carcinoma in children.<p c...

hrp0082p2-d3-618 | Turner Syndrome | ESPE2014

GH Deficiency as a Cause of Persistent Hypoglycaemia in a Child with Turner Mosaic and Kabuki Syndrome

Ajzensztejn Michal , Shah Pratik , Abid Noina , Hurst Jane , Morrogh Deborah , McKee Shane , Hussain Khalid

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...