Searchable abstracts of presentations at key conferences in endocrinology

ea0041gp188 | Reproduction & Endocrine Disruption | ECE2016

Human 3β-hydroxysteroid dehydrogenase deficiency associated with a normal spermatic numeration despite a severe enzyme deficit, after an accomplished transition period

Donadille Bruno , Cabrol Sylvie , Houang Muriel , Lebouc Yves , Morel Yves , Netchine Irene , Christin-Maitre Sophie

Human 3β-hydroxysteroid dehydrogenase deficiency is a rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations, leading to steroidogenesis impairment in both adrenals and gonads. The transition period is important for a successful adult fertility, but information about fertility is lacking in this rare disease.The patient presented with salt wasting at birth in Trousseau Hospital. Consanguinity was present, since the parents ...

ea0058oc5.1 | Oral Communications 5 | BSPED2018

Growth outcomes in adolescents and adults with Silver-Russell syndrome and the effects of childhood growth hormone treatment

Lokulo-Sodipe Oluwakemi , Canton Ana P M , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L , Binder Gerhard , Netchine Irene , Mackay Deborah J G , Inskip Hazel M , Byrne Christopher D , Davies Justin H , Temple I Karen

Childhood short stature in Silver-Russell syndrome (SRS) is frequently treated with growth hormone (GH), however final height and long-term body mass index (BMI) data are limited.Objective: To assess height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and Ger...

ea0081oc12.1 | Oral Communications 12: Reproductive and Developmental Endocrinology | ECE2022

The European Registries for Rare Endocrine Conditions (EuRRECa): the use of a core registry for collecting common data elements and clinician and patient reported outcomes

Priego Zurita Ana Luisa , Ali Salma Rashid , Bryce Jillian , Cools Martine , Danne Thomas , Dekkers Olaf M , Hiort Olaf , Katugampola Harshini , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Pereira Alberto M , Persani Luca , Reisch Nicole , Smyth Arelene , Sumnik Zdenek , Taruscio Domenica , Visser Edward , Appelman-Dijkstra Natasha , Ahmed Faisal

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 2019 and December 2021.<p class...

ea0081p180 | Reproductive and Developmental Endocrinology | ECE2022

European Registries for Rare Endocrine Conditions (EuRRECa): results from the e-Reporting platform for rare conditions (e-REC)

Rashid Ali Salma , Bryce Jillian , Luisa Priego Zurita Ana , Cools Martine , Danne Thomas , Katugampola Harshini , Dekkers Olaf M. , Hiort Olaf , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , M Pereira Alberto , Persani Luca , Reisch Nicole , Smyth Arelene , Sumnik Zdenek , Taruscio Domenica , Visser Edward , Appelman-Dijkstra Natasha , Ahmed Faisal

Background: EuRRECa ( is a web-based project that supports professional networks such as European Reference Networks (ERNs) in capturing standardised clinical information. The project includes an e-reporting registry (e-REC), which can be used to perform regular surveillance of specific events. Since 2018, e-REC has been used by the ERN for rare endocrine conditions (Endo-ERN) to understand the number of new clinical encounters at centres within this network.<p...

ea0063p1017 | Interdisciplinary Endocrinology 2 | ECE2019

Diagnosis announcement procedure in rare endocrine diseases: a survey of the French National Healthcare Network for Rare Endocrine Diseases (FIRENDO)

Layachi-Rahabi Haifa , Givony Maria , Demaret Beatrice , Brun Philippe , Aubron Marie-Reine , Bartes Beate , Bernard Lucie , Victor Amelie , Dujardin Veronique , Lancon Catherine , Perrotin Benedicte , Picard Virginie , Bouazza Naim , Abdoul Hendy , Malivoir Sabine , Ribeiro Murielle , Netchine Irene , Drui Delphine , Reynaud Rachel , Tardy Guidollet Veronique , Bertherat Jerome , Colin Claudine , Brue Thierry

Context: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step of the management of severe conditions like rare endocrine diseases. It is considered as an ‘eternal minute’, marking the end of a time of life when the disease was absent. Little is known on how diagnosis is communicated to patients and families. FIRENDO as defined by the National Plan for Rare Diseases aims at promoting education...

ea0056p677 | Paediatric endocrinology | ECE2018

Awareness & participation in rare disease registries within the European reference network on rare endocrine conditions (Endo-ERN)

Ali Salma R , Bryce Jillian , Cools Martine , Korbonits Marta , Beun Johan G , Taruscio Domenica , Beuschlein Felix , Danne Thomas , Dattani Mehul , Dekkers Olaf , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Persani Luca , Smyth Arlene , Sumnik Zdenek , Edward Visser W , Hiort Olaf , Pereira Alberto M , Faisal Ahmed S

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 ( 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.Methods: Endo-ERN RC le...