2020

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S van Geest, Prof Ayhan Abacı, Alberto Alcantud, Gautem P Ambegaonkar, Christine M Armour, … W Edward Visser.(Lancet Diabetes Endocrinol., Vol 8, Issue 7, P594-605.)

Genetic testing in inherited endocrine disorders, Joint position paper of the European Reference Network on Rare Endocrine Diseases (Endo-ERN)

Eggermann T, Elbracht M, Kurth I, Juul A, Holm Johannsen T, Netchine I, … Hiort O, on behalf of the European Reference Network on Rare Endocrine Conditions (Endo-ERN).(Orphanet J Rare Dis., 2020, 15:144.)

Second-Day Morning Cortisol Levels after Transsphenoidal Surgery Are Accurate Predictors of Secondary Adrenal Insufficiency with Diagnostic Cut-Offs Similar to Those in Non-Stressed Conditions

Nunzia Prencipe, Mirko Parasiliti-Caprino, Filippo Gatti, Federica Penner, Alessandro Maria Berton, Chiara Bona, … Silvia Grottoli.(Karger., Doi: 10.1159/000509092.)

Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions.

Johannsen TH, Andersson AM, Ahmed SF, de Rijke YB, Greaves RF, Hartmann MF, … Juul A.(Eur J Endocrinol., Volume 182: Issue 6 Page(s): P1–P15.)

An overview of clinical activities in Endo-ERN: the need for alignment of future network criteria.

de Vries F, Bruin M, Cersosimo A, van Beuzekom CN, Ahmed SF, Peeters RP, … Pereira AM.(Eur J Endocrinol., Volume 183, 2020, Issue 2.)

Acromegaly and joint pain: is there something more? A cross-sectional study to evaluate rheumatic disorders in growth hormone secreting tumor patients

N Prencipe, M Scarati, T Manetta, A M Berton, S Parisi, C Bona, … E Fusaro & S Grottoli.(J of Endocrinological Invest., 2020 43:1661–1667.)

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.

Bever Y, Brüggenwirth H, Wolffenbuttel K, Dessens A, Groenenberg I, Knapen M, … Hannema S.(J Med Genet., Published Online First: 17 April 2020. doi: 10.1136/jmedgenet-2019-106354.)

Central Adrenal Insufficiency Is Rare in Adults With Prader-Willi Syndrome

Anna G W Rosenberg, Karlijn Pellikaan, Christine Poitou, Anthony P Goldstone, Charlotte Høybye, Tania Markovic, … Laura C G De Graaff.(J Clin Endocrinol Metab., 2020 Jul 1;105(7):e2563-e2571. doi: 10.1210/clinem/dgaa168.)

2019

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.

Karlsson L, de Paula Michelatto D, Lusa ALG, D'Almeida Mgnani Silva C, Östberg LJ, Persson B, … Lajic S.(Clinical Biochemistry., Volume 73, 2019, Pages 50-56.)

Time to Diagnosis in Cushing’s Syndrome: A Meta-Analysis Based on 5367 Patients

German Rubinstein, Andrea Osswald, Eva Hoster, Marco Losa, Atanaska Elenkova, Sabina Zacharieva, … Martin Reincke.(JCEM., Volume 105, Issue 3, March 2020, Pages e12–e22.)

A Consensus on the Diagnosis and Treatment of Acromegaly Comorbidities: An Update

Andrea Giustina, Ariel Barkan, Albert Beckers, Nienke Biermasz, Beverly M K Biller, Cesar Boguszewski, … Shlomo Melmed.(J Clin Endocrinol Metab., 2020 Apr 1;105(4):dgz096. doi: 10.1210/clinem/dgz096.)

Addressing gaps in care of people with conditions affecting sex development and maturation.

Hiort O, Cools M, Springer A, McElreavey K, Greenfield A, Wudy S, … Audi L, on behalf of COST Actions DSDnet and GnRH Network as well as the European Reference Network for Rare Endocrine Conditions (Endo–ERN).(Nat Rev Endocrinol., volume 15, pages 615–622, 2019.)

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Stefan Groeneweg, Prof Robin P Peeters, Carla Moran, Athanasia Stoupa, Françoise Auriol, Davide Tonduti, … W Edward Visser.(Lancet Diabetes Endocrinol., VOLUME 7, ISSUE 9, P695-706.)

Journal Digest for Congenital Hyperinsulinism

Banerjee I & Mohnike K.

How can we make pregnancy safe for women with Turner syndrome?

Donadille B, Bernard V, & Christin-Maitre S.(Am J Med Genet., 2019 Mar;181(1):100-107.)

The current landscape of European registries for rare endocrine conditions.

Ali SR, Bryce J, Cools M, Korbonits M, Beun JG, Taruscio D, … Ahmed SF.(Eur J Endocrinol., Volume 180: Issue 1 Page(s): 89–98.)

2018

Evaluation of DSD training schools organized by cost action BM1303 “DSDnet”.

Bertalan R, Lucas-Herald A, Kolesinska Z, Berra M, Cools M, Balsamo A, & Hiort O.(Orphanet J Rare Dis., 13, 227, 2018.)

2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism

Persani L, Brabant G, Dattani M, Bonomi M, Feldt-Rasmussen U, Fliers E, … Trotsenburg A van.(Eur Thyroid., 2018;7:225–237.)

Improving Laboratory Assessment in Disorders of Sex Development through a Multidisciplinary Network.

Hannema S & de Rijke Y.(Karger., Sex Dev 2018;12:135-139.)

2014

Acromegaly: An Endocrine Society Clinical Practice Guideline

Laurence Katznelson, Edward R Laws, Jr, Shlomo Melmed, Mark E Molitch, Mohammad Hassan Murad, … John A H Wass.(J Clin Endocrinol Metab., Volume 99, Issue 11, 1 November 2014, Pages 3933–3951.)