ESPE Abstracts

Background: The condition when a person’s gender identity does not match the gender assigned at birth is called gender incongruence (GI). GI numbers increased tremendously over the last decade. Diabetes mellitus – type 1 and type 2 – is a severe and lifelong disease. GI combined with diabetes may potentiate the burden for affected people.Objective: The study aimed to characterize people with GI and diab...

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

Background: There is currently no published study evaluating the role of the IGF axis on bone development following anti-tumour necrosis factor (TNF) therapy in Crohn’s disease (CD).Method: Prospective, 12-month study in 19CD(12M) who were clinical responders to antiTNF therapy, median age 14.9 years (range 11.2–17.2). IGF1, insulin growth factor binding protein 3(IGFBP3), acid labile subunit (ALS), bone-specific alkaline phosphatase (BALP) and...

Background: Children with ISS have an array of causes that lead to short stature and/or poor growth velocity. Genetic causes of short stature, notably SHOX mutations, can be associated with subtle skeletal disproportion with shorter limbs, manifesting as increased sitting-to-standing height ratios or SDS.Objective and hypothesis: Children with ISS and skeletal disproportions have a diminished growth response to GH treatment compared to chi...

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...

Introduction: Worldwide the Short Synacthen Test (SST) is the most popular diagnostic investigation for adrenal insufficiency (AI) amongst both paediatric and adult endocrinologists. Cannulation and blood sampling are required making it invasive, time-consuming and resource-intensive. We have previously validated a reliably absorbed and well tolerated formulation of nasal synacthen (Nasacthin003) in healthy adult males, measuring the glucocorticoid response in salivary cortiso...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.<p cl...

Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Span...