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...

hrp0097p1-323 | Growth and Syndromes | ESPE2023

A systematic review of core outcomes reported in clinical trials of growth hormone therapy in children with growth hormone deficiency

Tseretopoulou Xanthippi , Lucas-Herald Angela , Chen Jiajia , Bachega Tania , Charmandari Evangelia , Choi Jin-Ho , Dou Xinyu , Gong Chunxiu , Hamza Rasha , Harvey Jamie , R. Hoffman Andrew , Horikawa Reiko , Johannsson Gudmundur , Jorge Alexander , S. Miller Bradley , Roehrich Sebastian , Sävendahl Lars , Vitali Diana , Wajnrajch Michael , Ching Chen Suet , Faisal Ahmed Syed

Introduction: Although the safety and effectiveness of recombinant human growth hormone therapy (rhGH) has been reported for several years, the level of consensus on the outcomes that should be reported is unclear. The aim of this systematic review is to study the frequency of reporting of these outcomes in children with GH deficiency (GHD).Methods: A systematic review was performed in Medline, Embase, Cochrane Central R...