Author(s): Mesquita F, Bernardino J, Henriques J, Raposo J, Ribeiro R, Paredes S

Affiliated Institution / ERN: APDP – Diabetes Portugal ;

Condition / Disease: diabetic nephropathy

Publication: Journal of Diabetes & Metabolic Disorders v23.1 p825-839 Year: 2023 ORPHAcode / other:

DOI: 10.1007/s40200-023-01357-4 Keywords: Clinical data,Diabetic nephropathy,Kidney disease,Machine learning,Risk prediction

Author(s): Schoenmakers E, Marelli F, Jørgensen HF, Visser WE, Moran C, Groeneweg S, Avalos C, Jurgens SJ, Figg N, Finigan A, Wali N, Agostini M, Wardle-Jones H, Lyons G, Rusk R, Gopalan D, Twiss P, Visser JJ, Goddard M, Nashef SAM, Heijmen R, Clift P, Sinha S, Pirruccello JP, Ellinor PT, Busch-Nentwich EM, Ramirez-Solis R, Murphy MP, Persani L, Bennett M, Chatterjee K

Affiliated Institution / ERN: AOU-Bologna ;

Condition / Disease: SBP2 defects - Rare thyroid signaling defect

Publication: Nature Communications v14.1 Year: 2023 ORPHAcode / other: ORPHA596426

DOI: 10.1038/s41467-023-43851-6 Keywords:

Author(s): Stark J, Tőke J, Huszty G, Nagy P, Bedics G, Bödör C, Tímár J, Tóth M

Affiliated Institution / ERN: Semmelweis University ;

Condition / Disease: Parathyroid carcinoma

Publication: Annales d'Endocrinologie v84.6 p761-763 Year: 2023 ORPHAcode / other: ORPHA143

DOI: 10.1016/j.ando.2023.06.003 Keywords:

Author(s): Ludwik KA, Opitz R, Jyrch S, Megges M, Weiner J, Beule D, Kühnen P, Stachelscheid H

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;

Condition / Disease: X-linked Allan-Herndon-Dudley syndrome

Publication: Stem Cell Research v73 p103256 Year: 2023 ORPHAcode / other: ORPHA59; ORPHA596426; ORPHA101955;

DOI: 10.1016/j.scr.2023.103256 Keywords: Allan-Herndon-Dudley syndrome,MCT8,SLC16A2

Author(s): LOPES-PINTO M, LACERDA-NOBRE E, MARQUES P, BUGALHO MJ

Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;

Condition / Disease: Von Hippel-Lindau

Publication: Minerva Endocrinology v48.4 Year: 2023 ORPHAcode / other: ORPHA892

DOI: 10.23736/s2724-6507.23.03885-x Keywords:

Author(s): Aglaia Kyrilli, Nunzia Tacelli, Lucia Russo, Laetitia Lebrun, Isabelle Salmon, Gilles Russ, Rodrigo Moreno-Reyes, Bernard Corvilain

Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;

Condition / Disease: Thyroid nodules and cancer stratification

Publication: Eur Thyroid J 2(6):e230135 Year: 2023 ORPHAcode / other: ORPHA146

DOI: 10.1530/ETJ-23-0135 Keywords: utonomously functioning thyroid nodules, cytology; scintigraphy, thyroid cancer, ultrasound

Author(s): Iglesias P, Biagetti B, Araujo-Castro M, Alcázar V, Guerrero-Pérez F, Rivero N, Casteràs A, Gómez CG, Izquierdo BG, Torres VV, Pascual-Corrales E, Pavón I, Villabona C, Cordido F, Díez JJ

Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ;

Condition / Disease: Pituitary adenomas

Publication: Experimental and Clinical Endocrinology & Diabetes v131.12 p631-638 Year: 2023 ORPHAcode / other: ORPHA963; ORPHA91349;

DOI: 10.1055/a-2197-3566 Keywords:

Author(s): Petersenn S, Fleseriu M, Casanueva FF, Giustina A, Biermasz N, Biller BMK, Bronstein M, Chanson P, Fukuoka H, Gadelha M, Greenman Y, Gurnell M, Ho KKY, Honegger J, Ioachimescu AG, Kaiser UB, Karavitaki N, Katznelson L, Lodish M, Maiter D, Marcus HJ, McCormack A, Molitch M, Muir CA, Neggers S, Pereira AM, Pivonello R, Post K, Raverot G, Salvatori R, Samson SL, Shimon I, Spencer-Segal J, Vila G, Wass J, Melmed S

Affiliated Institution / ERN: AOU Federico II - Naples ; Leiden University Medical Center ;

Condition / Disease: Prolactinoma

Publication: Nature Reviews Endocrinology v19.12 p722-740 Year: 2023 ORPHAcode / other: ORPHA2965

DOI: 10.1038/s41574-023-00886-5 Keywords:

Author(s): Ramalho D, Teixeira E, Cueto R, Correia S, Rocha G, Oliveira MJ, Soares P, Póvoa AA

Affiliated Institution / ERN: São João University Hospital(CHUSJ) ;

Condition / Disease: Papillary Thyroid Carcinoma

Publication: Cureus doi:10.7759/cureus.49563 Year: 2023 ORPHAcode / other: ORPHA146

DOI: 10.7759/cureus.49563 Keywords: disease-free survival,papillary thyroid microcarcinoma,prognosis,recurrence,thyroid neoplasms

Author(s): Scappaticcio L, Trimboli P, Bellastella G, Ferrazzano P, Clery E, Cozzolino I, Montella M, Fasano M, Pirozzi M, Ferrandes S, Docimo G, Ciardiello F, Franco R, Esposito K

Affiliated Institution / ERN: AOU University of Campania "Luigi Vanvitelli", Naples ;

Condition / Disease: Follicular thyroid carcinoma

Publication: Endocrine v84.2 p560-570 Year: 2023 ORPHAcode / other: ORPHA146

DOI: 10.1007/s12020-023-03604-3 Keywords: PTC subtypes,TI-RADS,Thyroid nodules

Author(s): de la Fouchardière C, Fugazzola L, Locati LD, Alvarez CV, Peeters RP, Camacho P, Simon IM, Jarząb B, Netea-Maier R

Affiliated Institution / ERN: IRCCS Auxologico Italian Institute - Milan ; Radboud University Medical Centre Nijmegen ;

Condition / Disease: Follicular thyroid carcinoma

Publication: Endocrine v83.3 p585-593 Year: 2023 ORPHAcode / other: ORPHA146

DOI: 10.1007/s12020-023-03610-5 Keywords: Diagnosis,Guidelines,Molecular testing,Real-world evidence,Thyroid cancer

Author(s): Piccini B, Felicioni M, Pessina B, Bertini M, Casalini E, Ceccotti C, Farina S, Ferrari M, Lenzi L, Monzali F, Toni S

Affiliated Institution / ERN: Meyer Children’s Hospital Florence ;

Condition / Disease: diabetes type 1

Publication: Nutrients v15.23 p4875 Year: 2023 ORPHAcode / other:

DOI: 10.3390/nu15234875 Keywords: advanced hybrid closed loop,body mass index,carbohydrate,glycemic control,pediatric diabetes

Author(s): Catalano R, Altieri B, Angelousi A, Arosio M, Bravi F, Canu L, Croci GA, Detomas M, Esposito E, Ferrante E, Ferrero S, Fuss CT, Kaltsas G, Kimpel O, Landwehr L, Luconi M, Morelli V, Nesi G, Nozza E, Sbiera S, Serban AL, Ronchi CL, Mantovani G, Peverelli E

Affiliated Institution / ERN: General Hospital of Athens “LAIKO” ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;

Condition / Disease: Adrenocortical carcinoma (ACC)

Publication: International Journal of Molecular Sciences v24.23 p16573 Year: 2023 ORPHAcode / other: ORPHA1501

DOI: 10.3390/ijms242316573 Keywords: ACC prognostic factor,IGF2,adrenocortical carcinoma,filamin A,molecular marker

Author(s): S R Ali, J Bryce, A L Priego-Zurita, M Cherenko, C Smythe, T M de Rooij, M Cools, T Danne, H Katugampola, O M Dekkers, O Hiort, A Linglart, I Netchine, A Nordenstrom, P Attila, L Persani, N Reisch, A Smyth, Z Sumnik, D Taruscio, W E Visser, A M Pereira, N M Appelman-Dijkstra, S F Ahmed

Affiliated Institution / ERN: Motol and Homolka University Hospital ; General Hospital of Athens “LAIKO” ; Hôpital Bicêtre ; Universitätsklinikum Schleswig-Holstein ; Klinikum der Universität München ; IRCCS Auxologico Italian Institute - Milan ; AOU-Bologna ;

Condition / Disease: EuRRECa - registries

Publication: Endocrine Connections 12(12):e230434 Year: 2023 ORPHAcode / other:

DOI: 10.1530/EC-23-0434 Keywords: European Reference Networks, databases, Endo-ERN, rare conditions, rare diseases, registries

Author(s): Pellikaan K, Nguyen NQC, Rosenberg AGW, Coupaye M, Goldstone AP, Høybye C, Markovic T, Grugni G, Crinò A, Caixàs A, Poitou C, Corripio R, Nieuwenhuize RM, van der Lely AJ, de Graaff LCG

Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;

Condition / Disease: Prader-Willi syndrome

Publication: The Journal of Clinical Endocrinology & Metabolism v108.12 pe1720-e1730 Year: 2023 ORPHAcode / other: ORPHA739

DOI: 10.1210/clinem/dgad312 Keywords: Prader-Willi syndrome,comorbidity,hypothalamo-hypophyseal system,neoplasms

Author(s): Hadoux J, Elisei R, Brose MS, Hoff AO, Robinson BG, Gao M, Jarzab B, Isaev P, Kopeckova K, Wadsley J, Führer D, Keam B, Bardet S, Sherman EJ, Tahara M, Hu MI, Singh R, Lin Y, Soldatenkova V, Wright J, Lin B, Maeda P, Capdevila J, Wirth LJ

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;

Condition / Disease: Medullary Thyroid Cancer

Publication: New England Journal of Medicine v389.20 p1851-1861 Year: 2023 ORPHAcode / other: ORPHA1332

DOI: 10.1056/nejmoa2309719 Keywords:

Author(s): Refardt J, Atila C, Chifu I, Ferrante E, Erlic Z, Drummond JB, Indirli R, Drexhage RC, Sailer CO, Widmer A, Felder S, Powlson AS, Hutter N, Vogt DR, Gurnell M, Soares BS, Hofland J, Beuschlein F, Fassnacht M, Winzeler B, Christ-Crain M

Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;

Condition / Disease: AVP Deficiency

Publication: New England Journal of Medicine v389.20 p1877-1887 Year: 2023 ORPHAcode / other: ORPHA101957; ORPHA30925;

DOI: 10.1056/nejmoa2306263 Keywords:

Author(s): Mancini A, Vergani E, Bruno C, Giavoli C, Spaziani M, Isidori AM, Arosio M, Pontecorvi A

Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;

Condition / Disease: Growth hormone deficiency (GHD)

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA631; ORPHA101957

DOI: 10.3389/fendo.2023.1298775 Keywords: IGF-1,adherence,compliance,e-health,growth hormone,personalized medicine

Author(s): Favero V, Prete A, Mangone A, Elhassan YS, Pucino V, Asia M, Hardy R, Chiodini I, Ronchi CL

Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;

Condition / Disease: Adrenocortical carcinoma (ACC)

Publication: European Journal of Endocrinology v189.5 p517-526 Year: 2023 ORPHAcode / other: ORPHA1501

DOI: 10.1093/ejendo/lvad151 Keywords: 1 mg overnight dexamethasone suppression test,Cushing's syndrome,adrenocortical tumours,inflammation scores,mild autonomous cortisol secretion

Author(s): Žarković M, Attanasio R, Nagy EV, Negro R, Papini E, Perros P, Cohen CA, Akarsu E, Alevizaki M, Ayvaz G, Bednarczuk T, Berta E, Bodor M, Borissova AM, Boyanov M, Buffet C, Burlacu M, Ćirić J, Díez JJ, Dobnig H, Fadeyev V, Field BCT, Fliers E, Frølich JS, Führer D, Galofré JC, Hakala T, Jiskra J, Kopp P, Krebs M, Kršek M, Kužma M, Lantz M, Lazúrová I, Leenhardt L, Luchytskiy V, McGowan A, Melo M, Metso S, Moran C, Morgunova T, Mykola T, Beleslin BN, Niculescu DA, Perić B, Planck T, Poiana C, Puga FM, Robenshtok E, Rosselet P, Ruchala M, Riis KR, Shepelkevich A, Unuane D, Vardarli I, Visser WE, Vrionidou A, Younes YR, Yurenya E, Hegedüs L

Affiliated Institution / ERN: University Hospital Essen ;

Condition / Disease: hypothyroidism

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other:

DOI: 10.3389/fendo.2023.1225202 Keywords: Europe,endocrinologists,healthcare delivery,hypothyroidism,questionnaire

Author(s): Fanis P, Neocleous V, Papapetrou I, Phylactou LA, Skordis N

Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;

Condition / Disease: Normosmic congenital hypogonadotropic hypogonadism

Publication: International Journal of Molecular Sciences v24.21 p15965 Year: 2023 ORPHAcode / other: ORPHA432

DOI: 10.3390/ijms242115965 Keywords: GnRH,GnRHR,HPG axis,gonadotropes,hypogonadotropic hypogonadism,pituitary

Author(s): Fanis P, Neocleous V, Papapetrou I, Phylactou LA, Skordis N

Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;

Condition / Disease: hypogonadotropic hypogonadism; pituitary

Publication: International Journal of Molecular Sciences v24.21 p15965 Year: 2023 ORPHAcode / other: ORPHA478; ORPHA432

DOI: 10.3390/ijms242115965 Keywords: GnRH,GnRHR,HPG axis,gonadotropes,hypogonadotropic hypogonadism,pituitary

Author(s): Giustina A, Biermasz N, Casanueva FF, Fleseriu M, Mortini P, Strasburger C, van der Lely AJ, Wass J, Melmed S, Banfi G, Barkan A, Beckers A, Bidlingmaier M, Boguszewski C, Brue T, Buchfelder M, Chanson P, Chiloiro S, Colao A, Coopmans E, Esposito D, Ferone D, Frara S, Gadelha M, Geer EB, Ghigo E, Greenman Y, Gurnell M, Ho K, Ioachimescu A, Johannsson G, Jørgensen JO, Kaiser UB, Karavitaki N, Katznelson L, Lamberts S, Losa M, Luger A, Luque R, Maffei P, Marazuela M, Neggers S, Pereira A, Persani L, Petersenn S, Reincke M, Salvatori R, Samson SN, Schilbach K, Shimon I, Tsagarakis S, Zatelli MC

Affiliated Institution / ERN: IRCCS Auxologico Italian Institute - Milan ;

Condition / Disease: Acromegaly

Publication: Pituitary doi:10.1007/s11102-023-01360-1 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.1007/s11102-023-01360-1 Keywords: Acromegaly,Assays,Diagnosis,Growth hormone,Insulin-like growth factor I,Remission criteria

Author(s): Giustina A, Biermasz N, Casanueva FF, Fleseriu M, Mortini P, Strasburger C, van der Lely AJ, Wass J, Melmed S, Banfi G, Barkan A, Beckers A, Bidlingmaier M, Boguszewski C, Brue T, Buchfelder M, Chanson P, Chiloiro S, Colao A, Coopmans E, Esposito D, Ferone D, Frara S, Gadelha M, Geer EB, Ghigo E, Greenman Y, Gurnell M, Ho K, Ioachimescu A, Johannsson G, Jørgensen JO, Kaiser UB, Karavitaki N, Katznelson L, Lamberts S, Losa M, Luger A, Luque R, Maffei P, Marazuela M, Neggers S, Pereira A, Persani L, Petersenn S, Reincke M, Salvatori R, Samson SN, Schilbach K, Shimon I, Tsagarakis S, Zatelli MC

Affiliated Institution / ERN: AOU Federico II - Naples ; San Raffaele hospital - Milan ; Erasmus MC: University Medical Center Rotterdam ; Charité Universitätsmedizin Berlin ;

Condition / Disease: Acromegaly

Publication: Pituitary doi:10.1007/s11102-023-01360-1 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.1007/s11102-023-01360-1 Keywords: Acromegaly,Assays,Diagnosis,Growth hormone,Insulin-like growth factor I,Remission criteria

Author(s): Schröder MAM, Greenald D, Lodewijk R, van Herwaarden AE, Span PN, Sweep FCGJ, Mitchell RT, Claahsen-van der Grinten HL

Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ;

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: Endocrinology v164.12 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.1210/endocr/bqad165 Keywords: adrenocorticotropic hormone,congenital adrenal hyperplasia,human fetal testis,testicular adrenal rest tumors

Author(s): De Leo S, D'Elia S, Grani G, Dondi F, Bertagna F, Puxeddu E, Morelli S, Piovesan A, Nervo A, Zatelli MC, Gagliardi I, Samà MT, Aimaretti G, Crocetti U, Massa M, Deandrea M, Retta F, Pagano L, Rossi M, Solaroli E, Pezzullo L, Chiofalo MG, Pontecorvi A, Lombardi CP, Antonelli A, Patrizio A, Messuti I, Magri F, Spiazzi G, Ceresini G, Bruno R, Sparano C, Centanni M, Crescenzi A, Tallini G, Marotta V, Madeo B, Mian C, Filetti S, Durante C, Fugazzola L

Affiliated Institution / ERN: AOU - Ferrara ; University Hospital of Padova ; AOU-Bologna ;

Condition / Disease: Oncogenic osteomalacia

Publication: Thyroid® v33.11 p1318-1326 Year: 2023 ORPHAcode / other: ORPH352540

DOI: 10.1089/thy.2023.0052 Keywords: outcome,prospective,radioiodine,thyroid cancer,thyroiditis

Author(s): Biester T, Eckert A, Becker M, Boettcher C, Golembowski S, Heidtmann B, Klinkert C, Müther S, Rami-Merhar B, Holl RW

Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ;

Condition / Disease: diabetes type 1

Publication: Diabetes Technology & Therapeutics v25.11 p774-781 Year: 2023 ORPHAcode / other:

DOI: 10.1089/dia.2023.0283 Keywords: Automated insulin dosage,Basal rate,Continuous subcutaneous insulin infusion,Insulin pump,Type 1 diabetes

Author(s): Guerreiro V, Mendonça F, Urbano Ferreira H, Freitas P, Pereira J, Bernardes I, Pinheiro J, Guimarães T, Carvalho D

Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;

Condition / Disease: Pituitary adenoma

Publication: Endocrinology, Diabetes & Metabolism v6.6 Year: 2023 ORPHAcode / other: ORPHA99408

DOI: 10.1002/edm2.445 Keywords: adenomas,hypopituitarism,nonfunctioning,pituitary

Author(s): David K, Devos G, Narinx N, Antonio L, Devlies W, Deboel L, Schollaert D, Eisenhauer A, Cavalier E, Vanderschueren D, Claessens F, Joniau S, Decallonne B

Affiliated Institution / ERN: UZ Leuven ;

Condition / Disease: PTH non-dependant hypercalcemia

Publication: eBioMedicine v97 p104817 Year: 2023 ORPHAcode / other: ORPHA68415; ORPHA405;

DOI: 10.1016/j.ebiom.2023.104817 Keywords: Androgen deprivation therapy,Androgen receptor signalling inhibitor,Bone turnover marker,Prostate cancer,Stable calcium isotope

Author(s): Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem M, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet M, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson J, Funalot B, Authier F, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J, Vanlander AV, Verloo P, Coucke PJ, Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B

Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;

Condition / Disease: Genetic lipodystrophy

Publication: Nature Genetics v55.11 p1929-1940 Year: 2023 ORPHAcode / other: ORPHA98305

DOI: 10.1038/s41588-023-01535-3 Keywords: