ESPE Abstracts

Background: Rare disease registries provide rich longitudinal data on patients with rare conditions that can be used for research. Those charged with access to data must safeguard the process, but also have a good oversight of the available data to be able to work with researchers to realistically assess whether there will be adequate data available to answer specific research questions. Data access committees would benefit from a pragmatic method of rapidly a...

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...

Background: Current guidelines for girls with gonadal dysgenesis due to Turner Syndrome (TS) recommend initiating estrogen therapy at 11-12 years of age, using 'natural' 17-β estradiol. However, there is scant evidence regarding the optimal modality of induction, particularly concerning whether oral or transdermal routes are more effective or acceptable.Aim: To retrospectively evaluate differences in puber...