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...

Background: Neoplastic causes of precocious puberty include brain, gonadal, adrenal and germ cell tumors; hepatoblastoma (HB) is only rarely noted [1,2]. HB, is a rare primary hepatic tumor of childhood [3]. It is accompanied by raised levels of alpha-fetoprotein (α-FP). Rarely, beta-human chorionic gonadotropin (β-hCG) levels are elevated, resulting in peripheral precocious puberty (PPP).Clinical Case: We pre...

Introduction: Niemann Pick type B (NMP B) is a rare lysosomal storage disease caused by mutations in the SMPD1 gene. Typically, had normal height and weight. In this work, we report an unusual association of a Niemann Pick disease in a child with hypopituitarism.Case:We report the case of a young boy who was hospitalized at the age of 11, in Hematological Department for splenomegaly and polyadenopathies where the d...

Brown tumor is a rare non-neoplastic focal giant cell lesion resulting due to increase osteolytic activity by excess of parathormone in cortical bone which is replaced by fibrovascular tissue, giant cells with hemorrhages and hemosiderin. It is a rare late stage bone sequelae of long standing hyperparathyroidism. Parathyroid adenoma is the commonest cause of primary hyperparathyroidism.We present a referred case of 15-year-old girl with highly aggressive...

We present a 13-year old boy, who presented with acute testicular pain. Examination revealed bulky, nodular testicular enlargement. Testicular ultrasound showed multifocal, hyperechoic, calcified masses in both testes, characteristic of large cell calcifying Sertoli cell tumours (LCCSCTs), following which he was referred to endocrinology. He had a history of benign skin tags and a previous chest wall tumour, confirmed as a lipoblastoma on histology. Physical examination showed...