2021

Thyroid Microcarcinoma in Pediatric Population in Romania

Andreea-Ioana Stefan, Andra Piciu, Maria Margareta Cosnarovici, Monica Dragomir, Romana Netea-Maier, & Doina Piciu.(MDPI., Children 2021, 8(5), 422;.)

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.(Endocrine., 2021(2).)

European Reference Networks: challenges and opportunities

Birute Tumiene, Holm Graessner, Irene MJ Mathijssen, Alberto M Pereira, Franz Schaefer, Maurizio Scarpa, … Helene Dollfus & Nicoline Hoogerbrugge.(J Community Genet., 2021.)

Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

Paul van Trotsenburg, Athanasia Stoupa, Juliane Léger, Tilman Rohrer, Catherine Peters, Laura Fugazzola, … and Michel Polak.(Mary Ann Liebert, Inc., ThyroidVol. 31, No. 3.)

Patient’s view on better care

Beun, Kristensen, Brosamle, & van den Berg.(Endocrine., 2021(2).)

Rare endocrine disease: Still a long and a winding road

Sebastiano Filetti.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment

van Geest F, Groeneweg S, & Visser E.(Endocrine., 2021(2).)

New genetics in congenital hypothyrodism

Stoupa A & Polak M.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

Update on primary bilateral macronodular adrenal hyperplasia (PBMAH)

Bouys L, Chiodini I, Arlt W, Reincke M, & Bertherat J.(Endocrine., 2021(2).)

Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes

Butz H, Blair J, & Patócs A.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

Hypercalcemia during pregnancy: management and outcomes for mother and child

Appelman-Dijkstra NM, Ertl DA, Carola Zillikens M, Rjenmark L, & Winter EM.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

The clinical aspects of pituitary tumour genetics

Dénes J & Korbonits M.(Endocrine., 2021(2).)

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, on behalf of Research and Science Work Package of Endo-ERN.

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.(Endocrine., 2021(2).)

Rare diseases caused by abnormal calcium sensing and signalling

Tőke J, Czirják G, Enyedi P, & Tóth M.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

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.(Endocrine., 2021(2).)

Introduction to Endo-ERN–scope and mission

Pereira AM & Hiort O.(Endocrine., 2021(2).)

2020

Congenital hypothyroidism: a 2020 consensus guidelines update An ENDO-EUROPEAN REFERENCE NETWORK (ERN) initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

Adrianus Sarinus van Trotsenburg, Athanasia Stoupa, Juliane Léger, Tilman Robert Rohrer, Catherine Peters, Laura Fugazzola, … Michel Polak.(Liebertpub., doi: 10.1089/thy.2020.0333.)

The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes

Salma R Ali, Jillian Bryce, Li En Tan, Olaf Hiort, Alberto M Pereira, Erica L T van den Akker, … Domenica Taruscio and S Faisal Ahmed.(MDPI., Volume 17 / Issue 23 / 10.3390/ijerph17238743.)

Predictors of recurrence of pheochromocytoma and paraganglioma: a multicenter study in Piedmont, Italy

Mirko Parasiliti-Caprino, Barbara Lucatello, Chiara Lopez, Jacopo Burrello, Francesca Maletta, Marinella Mistrangelo, … Emanuela Arvat & Mauro Maccario.(Hypertension Research., Volume 43, pages 500–510(2020).)