ESPE Abstracts

Introduction: The EQ5D questionnaire is an openly available, validated, age-specific and generic measure of quality of life (QoL) which takes less than 5 minutes to complete. A higher dimension score and a lower visual analogue scale (VAS) is associated with worse QoL. Our aim was to use this tool to assess the QoL of patients with a wide range of paediatric endocrine conditions in the routine clinical setting.Methods: B...

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.<...

Introduction: Post-marketing surveillance registries provided extensive information about the safety and efficacy of daily growth hormone (GH) therapy during treatment. With the availability of novel long-acting GH (LAGH) therapies, it is important to determine whether the novel molecules or the different pattern of GH exposure lead to changes in the efficacy and safety profile. Therefore, new surveillance registries of LAGH are warranted.<p class="abstext...

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...

Background: Turner syndrome (TS) is a chromosomal disorder characterized by ovarian dysgenesis, short stature, and other congenital abnormalities. This condition arises from a complete or partial loss of one X chromosome in females, often leading to delayed diagnosis and thus missing critical opportunities for timely treatment. Estrogen Replacement Therapy (ERT) and Growth Hormone Replacement Therapy (GHRT) are standard treatments, yet their long-term impacts ...

Objective: Transition is important for continuity of care for patients with chronic health conditions. The aimof this research was to evaluate the effectiveness of a transition clinic at a tertiary hospital in long term adult service attendance.Design: Retrospective case notes review of patients seen by paediatric endocrinology at the time of transition to adult services.Measurements:</stro...

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...

Aim: Serum IGF-1 is widely advocated as a tool for monitoring adherence, safety and effectiveness of recombinant human growth hormone (rhGH). However, there is a need to understand the real-world variations in IGF-1 levels in children on rhGH and the management of abnormal IGF-1 levels in routine clinical practice.Method: Centres participating in the Global Registry for Novel Therapies in Rare Bone and Endocrine Conditio...

Introduction: The Global Registry For Novel Therapies In Rare Bone & Endocrine Conditions (GloBE-Reg, https://globe-reg.net/) project was launched in 2022 with the aim of supporting studies that focus on effectiveness and long-term safety of specific therapies. The project’s initial focus has been on recombinant human growth hormone therapy (rhGH) given that there are existing gaps in knowledge with the introdu...