ESPE Abstracts

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...

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

Background: Rare metabolic bone diseases (RMBD) are at the crossways of Endocrinology, Nephrology, Orthopaedic surgery and Rheumatology. Most of RMBD lead to short stature, bone pain, tooth anomalies, leg deformities, bone fragility and disability of variable importance. The organization of care varies immensely amongst European countries. Several European networks dedicated to RMBD already exist, supported by societies such as ESPE, ECTS or research grants, albeit their focus...

Background: 45,X/46,XY mosaicism is a rare karyotype with a broad phenotypic variation. In patients with a male or predominantly male phenotype, impaired genital development and statural growth have been observed, but little is known about long-term outcomes. Larger multicenter studies are needed.Objective and hypotheses: The aim of this study is to investigate long-term outcomes, namely gonadal function, growth and co-morbidities, in a larger group of m...

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...

Background: Clinical outcome data of patients with adrenal insufficiency, who were affected by COVID-19, have been collected as a common initiative by the ESE Rare Disease Committee and ENDO-ERN via the European Registries for Rare Endocrine Conditions (EuRRECa) project. Methods: This Webropol-based questionnaire included a total of 32 questions collecting quantitative and qualitative data. Of the 19 medical centres out ...

Introduction: 5α-reductase type 2 deficiency (5α--RD) and 17β-HSD type 3 deficiency (17β-HSDD) are rare differences/disorders of sex development (DSD) in which impairment of steroidogenic enzymes causes undervirilisation in patients with a 46,XY genotype. We aim to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.Methods: Data on phenotype, laborato...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) project aims to support the needs of the endocrine and bone community by facilitating the collaboration between patients, health care professionals and researchers across Europe and beyond. It is a project funded by the European Union’s health programme and is the affiliated registry of the European Reference Network for Rare Endocrine Conditions (Endo-ERN). It consists of two r...