hrp0094p1-157 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Endocrine Monitoring and Outcome After Therapy In Childhood Survivors of Central Nervous System Tumours

Gilani Misha , McIntosh Diana , Murphy Dermot , Ronghe Milind , Sastry Jairam , Shaikh M Guftar , Kyriakou Andreas ,

Background: Childhood cancer survivors (CCS) are at increased risk of endocrinopathies; as a consequence of cranial/craniospinal radiotherapy and alkylating agents. Hypothalamic-pituitary dysfunction, thyroid dysfunction and gonadal failure are frequently seen.Aim: To explore the endocrine monitoring following completion of treatment for central nervous system (CNS) tumours within a regional paediatric oncology service.<...

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...