2022

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

van der Kaay DCM, Rochtus A, Binder G, Kurth I, Prawitt D, Netchine I, … Eggermann T.(Endocrine Connections., doi.org/10.1530/EC-22-0277.)

Impact of gender-affirming treatment on bone health in transgender and gender diverse youth

Ciancia S, Dubois V, & Cools M.(Endocrine Connections., doi.org/10.1530/EC-22-0280.)

A Critical Evaluation of the EU-virtual consultation platform (CPMS) within the European Reference Network on Rare Endocrine Conditions

White EK, Wagner IV, Beuzekom C van, Iotova V, Ahmed SF, Hiort O, & Pereira A.(Endocrine Connections., doi.org/10.1530/EC-22-0281.)

Testosterone in men with hypogonadism and transgender males: a systematic review comparing three different preparations

Madsen MC, Heijer MD, Pees C, Biermasz NR, & Bakker LEH.(Endocrine Connections., doi.org/10.1530/EC-22-0112.)

We mind your step: understanding and preventing drop-out in the transfer from paediatric to adult tertiary endocrine healthcare

Davidse K, van Staa A, Geilvoet W, van Eck JP, Pellikaan K, Baan J, … de Graaff LCG.(Endocrine Connections., doi.org/10.1530/EC-22-0025.)

Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

F M van Haalen, M Kaya, I C M Pelsma, O M Dekkers, N R Biermasz, S C Cannegieter, … Endo-ERN Cushing and Thrombosis study group.(Orphanet J Rare Dis., 178. doi: 10.1186/s13023-022-02320-x.)

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

A Nordenström, S F Ahmed, E van den Akker, J Blair, M Bonomi, C Brachet, … O M Dekkers 2.(Eur J Endocrinology., 186(6):G9-G49. doi: 10.1530/EJE-22-0073.)

ENDO-ERN ON RARE ENDOCRINE CONDITIONS: Endo-ERN in its fifth year: a pinch of care, science, curiosity and new horizons

Iotova V, Bertherat J, Mastorakos G, Hiort O, & Pereira AM.(Endocrine Connections., doi.org/10.1530/EC-22-0082.)

2021

Consensus on diagnosis and management of Cushing’s disease: a guideline update

Maria Fleseriu, Richard Auchus, Irina Bancos, Anat Ben-Shlomo, Jerome Bertherat, Nienke R Biermasz, … Beverly M K Bill.(Lancet Diabetes Endocrinol., .)

ESE Clinical Practice Guideline on functioning and nonfunctioning pituitary adenomas in pregnancy

A Luger, L H A Broersen, N R Biermasz, B M K Biller, M Buchfelder, P Chanson, … O M Dekkers.(Eur J Endocrinology., 185(3):G1-G33. doi: 10.1530/EJE-21-0462.)

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).)

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).)

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).)

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).)