Rare endocrine disease: Still a long and a winding road | Sebastiano Filetti | | |
Introduction to Endo-ERN–scope and mission | Pereira AM & Hiort O | | |
Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease | Hokken-Koelega A & Reincke M | | |
Access to patient oriented information—a baseline Endo-ERN survey among patients with rare endocrine disorders | Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, De Graaf J, Bratina N, … Hiort O | | WP1 |
CPMS–improving patient care in Europe via virtual case discussions | Mönig I, Steenvoorden D, de Graaf JP, Ahmed SF, Taruscio D, Beun JG, … Pereira AM | | WP2 |
Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) model | Ali SR, Bryce J, Smythe C, Hytiris M, Priego AL, Appelman-Dijkstra NM, & Ahmed SF | | WP2 |
Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research | de Graaf JP, de Vries F, Dirkson A, Hiort O, Pereira AM, Korbonits M, & Cools M | | WP3 |
Endo ERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases | Webb SM, Kristensen J, Vitali D, van Klink S, van Beuzekom C, Santos A, & Nordenström A | | WP4 |
Serum insulin-like factor 3 quantification by LC–MS/MS in male patients with hypogonadotropic hypogonadism and Klinefelter syndrome | Johannsen TH, Ljubicic ML, Young J, Trabado S, Petersen JH, Linneberg A, … Juul A | MTG7 | WP5 |
Patient’s view on better care | Beun, Kristensen, Brosamle, & van den Berg | | |
Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis | Nicole Reisch, Hanna Nowotny, Faisal Ahmed, Sophie Bensing, Johan G Beun, Manuela Brösamle, … Svetlana Lajic | MTG1 | |
Update on primary bilateral macronodular adrenal hyperplasia (PBMAH) | Bouys L, Chiodini I, Arlt W, Reincke M, & Bertherat J | MTG1 | |
Hypercalcemia during pregnancy: management and outcomes for mother and child | Appelman-Dijkstra NM, Ertl DA, Carola Zillikens M, Rjenmark L, & Winter EM | MTG2 | |
Rare diseases caused by abnormal calcium sensing and signalling | Tőke J, Czirják G, Enyedi P, & Tóth M | MTG2 | |
Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity | Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, … Maffei P | MTG3 | |
Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome | Reschke F, Rohayem J, Maffei P, Dassie F, Schwandt A, de Beaufort C, … Danne T | MTG3 | |
Patients’ perception on the quality of care for multiple endocrine neoplasia disorders in Europe: an online survey from a patient support group | Drewitz KP, Grey J, Brügmann P, Pichl J, Sammarco M, Aarts M, … Schaaf L | MTG4 | |
Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes | Butz H, Blair J, & Patócs A | MTG4 | |
Clinical management of patients with genetic obesity during COVID-19 pandemic: position paper of the ESE Growth & Genetic Obesity COVID-19 Study Group and Rare Endo-ERN main thematic group on Growth and Obesity | De Groot CJ, Poitou Bernert C, Coupaye M, Clement K, Paschou SA, Charmandari E, … Van Den Akker ELT | MTG5 | |
The clinical aspects of pituitary tumour genetics | Dénes J & Korbonits M | MTG6 | |
Assessing the health-related management of people with differences of sex development | Jürgensen M, Rapp M, Döhnert U, Frielitz F, Ahmed F, Cools M, … Hiort O | MTG7 | |
Endo-ERN expert opinion on the differential diagnosis of pubertal delay | Persani L, Bonomi M, Cools M, Dattani M, Dunkel L, Gravholt CH, & Juul A | MTG7 | |
Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment | van Geest F, Groeneweg S, & Visser E | MTG8 | |
New genetics in congenital hypothyrodism | Stoupa A & Polak M | MTG8 | |