ESPE Abstracts

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...

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....

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...

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. ...

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...

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...