Ausgabe 3/2021
Special Issue: Rare Endocrine Disease
Inhalt (25 Artikel)
Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease
Martin Reincke, Anita Hokken-Koelega
Access to patient oriented information—a baseline Endo-ERN survey among patients with rare endocrine disorders
Violeta Iotova, Camilla Schalin-Jäntti, Petra Bruegmann, Manuela Broesamle, Johan De Graaf, Natasa Bratina, Vallo Tillmann, Alberto M. Pereira, Olaf Hiort
CPMS–improving patient care in Europe via virtual case discussions
Isabel Mönig, Danielle Steenvoorden, Johan P. de Graaf, S. Faisal Ahmed, Domenica Taruscio, Johan G. Beun, Trine H. Johannsen, Anders Juul, Olaf Hiort, Alberto M. Pereira
Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) model
S. R. Ali, J. Bryce, C. Smythe, M. Hytiris, A. L. Priego, N. M. Appelman-Dijkstra, S. F. Ahmed
Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research
Johan P. de Graaf, Friso de Vries, Anne Dirkson, Olaf Hiort, Alberto M. Pereira, Márta Korbonits, Martine Cools
EndoERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases
Susan M. Webb, Jette Kristensen, Diana Vitali, Sandra van Klink, Charlotte van Beuzekom, Alicia Santos, Anna Nordenström
Serum insulin-like factor 3 quantification by LC–MS/MS in male patients with hypogonadotropic hypogonadism and Klinefelter syndrome
Trine Holm Johannsen, Marie Lindhardt Ljubicic, Jacques Young, Séverine Trabado, Jørgen Holm Petersen, Allan Linneberg, Jakob Albrethsen, Anders Juul
Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis
Hanna Nowotny, S. Faisal Ahmed, Sophie Bensing, Johan G. Beun, Manuela Brösamle, Irina Chifu, Hedi Claahsen van der Grinten, Maria Clemente, Henrik Falhammar, Stefanie Hahner, Eystein Husebye, Jette Kristensen, Paola Loli, Svetlana Lajic, Nicole Reisch
Update on primary bilateral macronodular adrenal hyperplasia (PBMAH)
Lucas Bouys, Iacopo Chiodini, Wiebke Arlt, Martin Reincke, Jérôme Bertherat
Hypercalcemia during pregnancy: management and outcomes for mother and child
Natasha M. Appelman-Dijkstra, Diana- Alexandra Ertl, M. C. Zillikens, Lars Rjenmark, Elizabeth M. Winter
Rare diseases caused by abnormal calcium sensing and signalling
Judit Tőke, Gábor Czirják, Péter Enyedi, Miklós Tóth
Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity
Francesca Dassie, Francesca Favaretto, Silvia Bettini, Matteo Parolin, Marina Valenti, Felix Reschke, Thomas Danne, Roberto Vettor, Gabriella Milan, Pietro Maffei
Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome
Felix Reschke, Julia Rohayem, Pietro Maffei, Francesca Dassie, Anke Schwandt, Carine de Beaufort, Sonia Toni, Agnieszka Szypowska, Roque Cardona-Hernandez, Nicolin Datz, Katharina Klee, Thomas Danne
Patients’ perception on the quality of care for multiple endocrine neoplasia disorders in Europe: an online survey from a patient support group
Karl Philipp Drewitz, Jo Grey, Petra Brügmann, Josef Pichl, Martina Sammarco, Monique Aarts, Dirk van Genechten, Maria-Luisa Brandi, Ludwig Schaaf
Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes
Henriett Butz, Jo Blair, Attila Patócs
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
Cornelis Jan De Groot, Christine Poitou Bernert, Muriel Coupaye, Karine Clement, Stavroula A. Paschou, Evangelia Charmandari, Christina Kanaka-Gantenbein, Martin Wabitsch, Emilie P. Buddingh, Barbara Nieuwenhuijsen, Ljiljana Marina, Gudmundur Johannsson, E. L. T. Van Den Akker
Assessing the health-related management of people with differences of sex development
Martina Jürgensen, Marion Rapp, Ulla Döhnert, Fabian-Simon Frielitz, Faisal Ahmed, Martine Cools, Ute Thyen, Olaf Hiort
ENDO-ERN expert opinion on the differential diagnosis of pubertal delay
Luca Persani, Marco Bonomi, Martine Cools, Mehul Dattani, Leo Dunkel, Claus H. Gravholt, Anders Juul
Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment
Ferdy S. van Geest, Stefan Groeneweg, W. Edward Visser
New genetics in congenital hypothyroidism
Athanasia Stoupa, Dulanjalee Kariyawasam, Marina Muzza, Tiziana de Filippis, Laura Fugazzola, Michel Polak, Luca Persani, Aurore Carré
Patient’s view on better care
Jette Kristensen, Manuela Brösamle, Bas van den Berg
Correction to: Patient’s view on better care
Jette Kristensen, Manuela Brösamle, Bas van den Berg