Endocrine supplemental issue for Rare Disease Day 2021

Endocrine supplemental issue for Rare Disease Day 2021

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Endocrine (International Journal of Basic and Clinical Endocrinology) together with Endo-ERN created a special edition for Rare Disease Day 2021, with guest editors Sebastiano Filetti, Olaf Hiort & Alberto Pereira.

 

 
 
 
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TitleAuthorsMTGsWPs
Rare endocrine disease: Still a long and a winding roadSebastiano Filetti
Introduction to Endo-ERN–scope and missionPereira AM & Hiort O
Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine diseaseHokken-Koelega A & Reincke M
Access to patient oriented information—a baseline Endo-ERN survey among patients with rare endocrine disordersIotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, De Graaf J, Bratina N, … Hiort OWP1
CPMS–improving patient care in Europe via virtual case discussionsMönig I, Steenvoorden D, de Graaf JP, Ahmed SF, Taruscio D, Beun JG, … Pereira AMWP2
Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) modelAli SR, Bryce J, Smythe C, Hytiris M, Priego AL, Appelman-Dijkstra NM, & Ahmed SFWP2
Patients with rare endocrine conditions have corresponding views on unmet needs in clinical researchde Graaf JP, de Vries F, Dirkson A, Hiort O, Pereira AM, Korbonits M, & Cools MWP3
Endo ERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseasesWebb SM, Kristensen J, Vitali D, van Klink S, van Beuzekom C, Santos A, & Nordenström AWP4
Serum insulin-like factor 3 quantification by LC–MS/MS in male patients with hypogonadotropic hypogonadism and Klinefelter syndromeJohannsen TH, Ljubicic ML, Young J, Trabado S, Petersen JH, Linneberg A, … Juul AWP5
Patient’s view on better careBeun, Kristensen, Brosamle, & van den Berg
Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisisNicole Reisch, Hanna Nowotny, Faisal Ahmed, Sophie Bensing, Johan G Beun, Manuela Brösamle, … Svetlana LajicMTG1
Update on primary bilateral macronodular adrenal hyperplasia (PBMAH)Bouys L, Chiodini I, Arlt W, Reincke M, & Bertherat JMTG1
Hypercalcemia during pregnancy: management and outcomes for mother and childAppelman-Dijkstra NM, Ertl DA, Carola Zillikens M, Rjenmark L, & Winter EMMTG2
Rare diseases caused by abnormal calcium sensing and signallingTőke J, Czirják G, Enyedi P, & Tóth MMTG2
Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesityDassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, … Maffei PMTG3
Collaboration for rare diabetes: understanding new treatment options for Wolfram syndromeReschke F, Rohayem J, Maffei P, Dassie F, Schwandt A, de Beaufort C, … Danne TMTG3
Patients’ perception on the quality of care for multiple endocrine neoplasia disorders in Europe: an online survey from a patient support groupDrewitz KP, Grey J, Brügmann P, Pichl J, Sammarco M, Aarts M, … Schaaf LMTG4
Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromesButz H, Blair J, & Patócs AMTG4
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 ObesityDe Groot CJ, Poitou Bernert C, Coupaye M, Clement K, Paschou SA, Charmandari E, … Van Den Akker ELTMTG5
The clinical aspects of pituitary tumour geneticsDénes J & Korbonits MMTG6
Assessing the health-related management of people with differences of sex developmentJürgensen M, Rapp M, Döhnert U, Frielitz F, Ahmed F, Cools M, … Hiort OMTG7
ENDO-ERN expert opinion on the differential diagnosis of pubertal delayPersani L, Bonomi M, Cools M, Dattani M, Dunkel L, Gravholt CH, & Juul AMTG7
Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatmentvan Geest F, Groeneweg S, & Visser EMTG8
New genetics in congenital hypothyrodismStoupa A & Polak MMTG8
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