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...

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...

hrp0092p3-206 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Unusual Cause of Hypopituitarism: A Niemann Pick Disease

Safi Wajdi , Kacem Faten Hadj , Naifar Manel , Kallel Faten , Ayadi Fatma , Feki Mouna Mnif , Abid Mohamed

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...

hrp0092p3-310 | Late Breaking Abstracts | ESPE2019

Case Report: Primary Hyperparathyroidism Presenting as a Brown Tumor of Mandible in an Adolescent Girl - An Unusual Presentation with Challenges and Outcome

Manzoor Jaida , Ahmed Saeed , Talat Nabila , Ali Qureshi Abid , Tahir Aisha

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...

hrp0092p2-39 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Bone Mineral Status in Adults with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

Othman Wafa Ben , Hadjkacem Faten , Gargouri Imen , Safi Wajdi , Charfi Nadia , Rekik Nabila , Kamoun Thouraya , Mnif Mouna , Abid Mohamed

Introduction: 21-Hydroxylase deficiency is the most frequent inborn error of steroidogenesis causing congenital adrenal hyperplasia (CAH). Bone status is affected by chronic glucocorticoid therapy and excess androgen exposure in patients with CAH. Our objective is to evaluate the bone mineral metabolism and density in adulthood in a Tunisian cohort.Subjects and Methods: We underwent a prospective study of 26 patients ove...

hrp0092p3-97 | Fat, Metabolism and Obesity | ESPE2019

Metabolic Syndrome in Adults with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Gargouri Imen , Hadjkacem Faten , Safi Wajdi , Ghorbel Dorra , Nabila Rekik , Nadia Charfi , Kamoun Thouraya , Mnif Mouna , Abid Mohamed

Introduction: 21-Hydroxylase deficiency is the most frequent form of congenital adrenal hyperplasia (CAH) which is a common autosomal recessive disorder characterized by impaired adrenocortical and adrenomedullary function, and adrenal hyperandrogenism. Chronic glucocorticoid therapy and excess androgen exposure in patients with CAH may predispose them to developing a metabolic syndrome in adulthood.Our objective is to evaluate the metabolic syndrome in adulth...

hrp0092p3-252 | Thyroid | ESPE2019

An Unusual Presentation of Hypothyridism: Van Wyk-Grumbach Syndrome

Gargouri Imen , Hadjkacem Faten , Safi Wajdi , Ben Othman Wafa , Charfi Nadia , Rekik Nabila , Mnif Mouna , Abid Mohamed

Introduction: The association of juvenile hypothyroidism, precocious puberty and ovarian enlargement is known as Van Wyk and Grumbach syndrome (VWGS). This diagnosis is considered on the basis of imaging findings and thyroid function analysis.Case report: Herein we report a case of 9 years old girl was referred to the endocrinology department with a suspicion of precocious puberty after having progressive breast enlargem...