hrp0089p1-p164 | Growth & Syndromes P1 | ESPE2018

Changing Patterns of Growth in Prader-Willi Syndrome

Irene Neophytou Georgia , Frixou Mikaela , Guftar Shaikh M. , Kyriakou Andreas

Introduction/Aim: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition. The aim was to describe the patterns of growth in PWS and the influence of both changes in clinical practice and GH therapy.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 200...

hrp0097p1-286 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Aetiology and Outcome of Hypoglycaemia in Young Children

Yean Chai Xin , Guftar Shaikh M. , D. McNeilly Jane

Background: Hypoglycaemia is one of the most common presenting complaints at paediatric emergency department. There are many distinct causes of hypoglycaemia, ranging from nutritional insufficiency, infectious origins, to metabolic disorders. A thorough investigation can help differentiate the cause of hypoglycaemia, with subsequent tailored management. All patients with hypoglycaemia should have a full clinical assessment and together with a hypoglycaemia scr...

hrp0095p2-57 | Diabetes and Insulin | ESPE2022

Outcome of positive adrenal antibodies identified on screening in children with T1DM

Pinsker Jonathan , McNeilly Jane , Whyte Karen , Kuehne Vaiva , Faisal Ahmed S , Guftar Shaikh M

Background: Primary adrenal insufficiency (PAI) is characterised by the immune destruction of the adrenal cortex and leads to impaired production of the adrenal hormones. It is a potentially life-threatening condition that can be managed if identified early. The onset is insidious and often difficult to diagnose. Screening for adrenal autoantibodies is routinely performed in autoimmune conditions such as type 1 diabetes mellitus (T1DM). The guidance around the...

hrp0097p1-364 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Transient diencephalic syndrome as a result of hypothalamic compression in a paediatric case of neurofibromatosis Type 1 (NF1).

Sepich Margherita , Romagnoli Gea , Ching Chen Suet , McIntosh Diana , O’Kane Roddy , Murphy Dermot , Guftar Shaikh M

Introduction: Diencephalic syndrome (DS) is a rare condition characterised by weight loss despite adequate calorie intake in association with other signs and symptoms such as hyperalertness, hyperactivity, visual field defects, nystagmus and vomiting. DS occurs in the presence of hypothalamic lesions, but its exact mechanism remains unclear. The diagnosis is often delayed due to the absence of specific clinical and biochemical features.<...

hrp0097p1-158 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Outcome of Children with Neurofibromatosis in the West of Scotland.

Romagnoli Gea , Sepich Margherita , Ching Chen Suet , Ronghe Milind , Sastry Jairam , McIntosh Diana , O’Kane Roddy , Murphy Dermot , Guftar Shaikh M

Background: Neurofibromatosis 1 (NF1) is a clinically heterogeneous genetic condition caused by the mutation of the NF1 gene. Individuals with NF1 have an increased risk of developing tumours, both benign and malignant. The most characteristic are plexiform neurofibromas, occurring in almost all patients. Other manifestations include café-au-lait macules, ocular involvement, intertriginous freckling, and learning disabilities or behavioural problems. Th...