Author(s): Battelino T, Kuusela S, Shetty A, Rabbone I, Cherubini V, Campbell F, Ahomäki R, Tuomaala A, Peters C, Iafusco D, Sundaram P, Schiaffini R, Cellot J, Gulotta F, Di Piazza F, Cohen O, van den Heuvel T, Vorrink L, Edd S, Julian B, Castaneda J, Shin J, Pulkkinen M, Jussila R, Kauppi E, Viikari L, Hunttila J, Alanen H, Palmu S, Pohjanpää M, Jylhä H, Väärälä H, Koski M, Keränen N, Pozzi E, Cammarata V, Boggio Sola V, Savastio S, Chiarle E, Battioni A, Dimarakis S, Tiberi V, Iannilli A, Marino M, Capogna A, Zanfardino A, Pampanini V, Rapini N, Bratina N, Dovc K, Smigoc Schweiger D, Murn Berkopec B, Logar Dolinšek T, Smith E, Fay Allen M, Yong J, Kelleher A, Mullier C, Evans J, Kinghorn S, Byatt J, Khanagha Y, Hill M, Trentham S, Yendle L, Harris R, Williams G, Phillips B, de Carteret A, Rees S, Margetts R, Wellings L, Amor S, Potts L, Laszczych B, Martin R, Badham E, Greening J, Collins M, Mayes A, Hunt S

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

Condition / Disease: MODY

Publication: The Lancet Diabetes & Endocrinology v13.8 p662-673 Year: 2025 ORPHAcode / other: ORPHA552

DOI: 10.1016/S2213-8587(25)00091-9 Keywords:

Author(s): Simo J, Lugar HM, Miller E, Wilf-Yarkoni A, Goldberg Y, Kocaağa A, Ito S, Cocozza S, Frontino G, Baldoli C, Benbachir A, Ashton C, Rouleau GA, Hershey T, Nadjar Y, La Piana R

Affiliated Institution / ERN: San Raffaele hospital - Milan ; AOU Federico II - Naples ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;

Condition / Disease: Wolfram syndrome

Publication: Frontiers in Neurology v16 Year: 2025 ORPHAcode / other: ORPHA3463

DOI: 10.3389/fneur.2025.1623314 Keywords: Wolfram (DIDMOAD) syndrome,genetic mimickers of MS,multiple sclerosis,rare diseases,white matter (WM)

Author(s): Piekiełko-Witkowska A, Elisei R, Leger J, Bendlová B, Pekova BB, Caron P, Durante C, Fassnacht M, Feldt-Rasmussen U, Nyström HF, Jansen H, Köhrle J, Kuś A, Ludgate M, Mertens J, Oczko-Wojciechowska M, Peters C, Schoenmakers N, Stoupa A, van Santen H, Trimboli P, van Trotsenburg P, Edward Visser W

Affiliated Institution / ERN: Amsterdam UMC ; Ghent University Hospital ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; AOU Pisan ; University Hospital Würzburg ; Copenhagen University Hospital, Rigshospitalet ; Sahlgrenska University Hospital ; Charité Universitätsmedizin Berlin ; UZ Antwerpen ; Maria Sklodowska-Curie National Research Institute of Oncology (MSCNRIO) ; Máxima Medisch Centrum Veldhoven ; Erasmus MC: University Medical Center Rotterdam ;

Condition / Disease: Permanent congenital hypothyroidism

Publication: European Journal of Endocrinology v193.Supplement_2 pii117-ii127 Year: 2025 ORPHAcode / other: ORPHA226292

DOI: 10.1093/ejendo/lvaf010 Keywords: Graves’ disease,Hashimoto's thyroiditis,autoimmune thyroid disease,congenital hypothyroidism,endocrine-disrupting chemicals,medullary thyroid cancer,microbiome,subclinical thyroid disease,thyroid,thyroid cancer

Author(s): Yang X, Zanfardino A, Schiaffini R, Ishibashi J, Daniel B, Haemmerle MW, Rapini N, Piscopo A, Miraglia del Giudice E, Digilio MC, Iorio R, Mucciolo M, Cianfarani S, Iafusco D, Barbetti F, Stoffers DA

Affiliated Institution / ERN: AOU Federico II - Naples ; Karolinska University Hospital ; AOU University of Campania "Luigi Vanvitelli", Naples ;

Condition / Disease: MODY

Publication: JCI Insight v10.11 Year: 2025 ORPHAcode / other: ORPHA552

DOI: 10.1172/jci.insight.189343 Keywords: Development,Diabetes,Endocrinology,Genetic diseases

Author(s): Atila C, Lustenberger S, Chifu I, Ferrante E, Erlic Z, Drummond JB, Indirli R, Drexhage R, Powlson AS, Gurnell M, Santana Soares B, Hofland J, Beuschlein F, Fassnacht M, Winzeler B, Refardt J, Christ-Crain M

Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; University Hospital Würzburg ; Klinikum der Universität München ;

Condition / Disease: Acquired central diabetes insipidus

Publication: Pituitary v28.1 Year: 2025 ORPHAcode / other: ORPHA95626

DOI: 10.1007/s11102-024-01489-7 Keywords: Arginine vasopressin,Diabetes insipidus,Pituitary,Polyuria polydipsia,Posterior pituitary,Stimulation test

Author(s): Le Roux E, Stochholm K, Fassnacht M, Coyne I, Touraine P, Alexandraki KI, Wasniewska M, van Eck JP, Di Guisto V, Helm A, Valassi E, Marlier J, Cools M, Hamza RT, Aversa T, Isidori AM, Juul A, Verroken C, Ornstrup MJ, Zabuliene L, Davidse K, Cianfarani S, Neggers SJ

Affiliated Institution / ERN: Ghent University Hospital ; Erasmus MC: University Medical Center Rotterdam ; Aarhus University Hospital ; University Hospital Würzburg ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; AOU polyclinic "G.Martino" of Messina ; AOU Policlinico Umberto I - Rome ; Copenhagen University Hospital, Rigshospitalet ; Karolinska University Hospital ;

Condition / Disease: Rare endocrine disease

Publication: Hormone Research in Paediatrics p1-11 Year: 2026 ORPHAcode / other: ORPHA97978

DOI: 10.1159/000550744 Keywords: Adolescent,Clinical practice guidelines,Endocrine conditions,Healthcare transition,Young adult

Author(s): Pamporaki C, Pommer G, Apostolopoulos ID, Filippatos A, Peitzsch M, Remde H, Constantinescu G, Berends AM, Nazari MA, Beuschlein F, Fassnacht M, Prejbisz A, Pacak K, Eisenhofer G

Affiliated Institution / ERN: University Medical Center Groningen ; University Hospital Würzburg ; Karol Jonscher Clinical Hospital of Poznań University of Medical Sciences ; General Hospital of Athens “LAIKO” ;

Condition / Disease: Hereditary pheochromocytoma-paraganglioma

Publication: eClinicalMedicine v82 p103181 Year: 2025 ORPHAcode / other: ORPHA29072

DOI: 10.1016/j.eclinm.2025.103181 Keywords:

Author(s): van Uitert A, Wijnen MH, Simons DC, Vietor CL, van Ginhoven TM, de Krijger RR, Vriens MR, Nieveen van Dijkum EJ, Koetje JH, Kruijff S, Schreuder MF, Timmers HJ, Langenhuijsen JF

Affiliated Institution / ERN: University Medical Center Groningen ; Karolinska University Hospital ; Amsterdam UMC ; Erasmus MC: University Medical Center Rotterdam ; Radboud University Medical Centre Nijmegen ; University Medical Center Utrecht ;

Condition / Disease: Hereditary pheochromocytoma-paraganglioma

Publication: Surgery v186 p109592 Year: 2025 ORPHAcode / other: ORPHA29072

DOI: 10.1016/j.surg.2025.109592 Keywords:

Author(s): van den End JW, Jager EC, Verbeek HHG, Oldehinkel E, Jansen L, Brouwers AH, Zandee WT, Kruijff S, Links TP

Affiliated Institution / ERN: University Medical Center Groningen ; Karolinska University Hospital ;

Condition / Disease: Follicular thyroid carcinoma

Publication: Head & Neck v47.6 p1653-1664 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1002/hed.28076 Keywords: quality of life,radiation,radiotherapy,thyroid cancer,toxicity

Author(s): Hoermann H, Roeper M, van Faassen M, Hagenbeck C, Herebian D, Muller Kobold AC, Dukart J, Kema IP, Mayatepek E, Meissner T, Kummer S

Affiliated Institution / ERN: University Medical Center Groningen ; Universitätsklinikum Düsseldorf ;

Condition / Disease: Rare Diabetes

Publication: The Journal of Pediatrics v289 p114897 Year: 2026 ORPHAcode / other: ORPHA101952

DOI: 10.1016/j.jpeds.2025.114897 Keywords: catecholamines,hyperglycemia,hypoglycemia,neonate,preterm infants

Author(s): Bollerslev J, Buch O, Cardoso LM, Gittoes N, Houillier P, van Hulsteijn L, Makay O, Marcocci C, Pallais JC, Pilz S, Rejnmark L, Yavropoulou M, Dekkers OM

Affiliated Institution / ERN: General Hospital of Athens “LAIKO” ; Leiden University Medical Center ; Aarhus University Hospital ; Oslo University Hospital ; Reference centre for rare diseases of calcium and phosphate-HEGP ;

Condition / Disease: Hypoparathyroidism

Publication: European Journal of Endocrinology v193.5 pG83-G112 Year: 2025 ORPHAcode / other: ORPHA181405

DOI: 10.1093/ejendo/lvaf222. Keywords: Hypoparathyroidism,PTH replacement therapy,hypocalcaemia,vitamin D

Author(s): Ganner A, Ferrara AM, Sekula P, Schiavi F, Joo JH, Sanso G, Almeida MQ, Knoblauch AL, Gizaw CJ, Krzystolik K, Astheimer SC, Achatz MI, Vieites A, Donegan D, Hundsberger T, Lubinski J, Yildirim Simsir I, Bandgar T, Hasse-Lazar K, Pawlaczek A, Zandee W, Yu K, Kater CE, Rostomyan L, Qi X, Deutschbein T, Remde H, Dallagnol TN, Yukina M, Baudrand R, Andreescu CE, Kunavisarut T, Ishak ND, Le Guillou Horn X, Shutler G, Jovanovic M, Pęczkowska M, Calissendorf J, Circosta F, Bugalho MJ, Corssmit EPM, Gimm O, Quinkler M, Goldmann A, Watutantrige Fernando S, Zovato S, Santana LS, Freitas-Castro F, Rothermundt C, Zimmermann J, Durmaz A, Aykut A, Vroonen L, Krauss T, Taschner C, Ruf J, Klingler J, Gläsker S, Lang S, Bucher F, Agostini H, Jilg C, Schultze-Seemann W, Bausch B, Bergfeld A, Rhein K, Uslar T, Concistrè A, Juhlin CC, Casali-da-Rocha JC, Petramala L, Tsoy U, Grineva E, Fang X, Kotsis F, Schaefer T, Links TP, Makay Ã, Fagundes GFC, Ngeow J, Shah N, Opocher G, Barontini M, Larsson C, Januszewicz A, Viana Lima J, Wohllk N, Letizia C, Donatini G, Maher ER, Beltsevich D, Bancos I, Cybulski C, Walz MK, Köttgen A, Eng C, Neumann HPH, Neumann-Haefelin E

Affiliated Institution / ERN: University Medical Center Groningen ; University Hospital Würzburg ; Antonio Cardarelli Hospital - Naples ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; UZ Brussels ; Karol Jonscher Clinical Hospital of Poznań University of Medical Sciences ; São João University Hospital(CHUSJ) ; Karolinska University Hospital ;

Condition / Disease: Von Hippel-Lindau disease

Publication: Endocrine-Related Cancer v32.5 Year: 2025 ORPHAcode / other: ORPHA892

DOI: 10.1530/ERC-24-0260 Keywords: genotype-phenotype,personalized preventive medicine,tumor risk profiles,von Hippel–Lindau disease

Author(s): Verstegen MMA, Coppes RP, Beghin A, De Coppi P, Gerli MFM, de Graeff N, Pan Q, Saito Y, Shi S, Zadpoor AA, van der Laan LJW

Affiliated Institution / ERN: University Medical Center Groningen ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; UZ Antwerpen ; Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ;

Condition / Disease: Follicular thyroid carcinoma

Publication: Nature Medicine v31.2 p409-421 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1038/s41591-024-03489-3 Keywords:

Author(s): van de Berg DJ, Schouw HM, Vriens MR, Paul van Trotsenburg A, Mooij CF, van Santen HM, Terwisscha van Scheltinga SC, Boot AM, Nieveen van Dijkum EJ, Kruijff S, Engelsman AF, Derikx JP

Affiliated Institution / ERN: University Medical Center Groningen ; Karolinska University Hospital ; Amsterdam UMC ; University Medical Center Utrecht ;

Condition / Disease: Follicular thyroid carcinoma

Publication: Journal of Pediatric Surgery v60.8 p162365 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1016/j.jpedsurg.2025.162365 Keywords:

Author(s): Jager EC, van Hemel BM, Rutgers B, Zandee WT, Jansen L, Kruijff S, Links TP

Affiliated Institution / ERN: Karolinska University Hospital ; University Medical Center Groningen ;

Condition / Disease: Follicular thyroid carcinoma

Publication: Cancers v17.5 p737 Year: 2025 ORPHAcode / other: ORPHA1332

DOI: 10.3390/cancers17050737 Keywords:

Author(s): Jager EC, Sondorp LHJ, Maturi R, Antunes IF, van Hemel BM, Brouwer U, Jansen L, Zandee WT, Brouwers AH, Links TP, Coppes RP, Kruijff S

Affiliated Institution / ERN: University Medical Center Groningen ; Karolinska University Hospital ; AOU Federico II - Naples ;

Condition / Disease: Follicular thyroid carcinoma

Publication: European Thyroid Journal v14.5 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1530/ETJ-24-0405 Keywords:

Author(s): Rodríguez-Lloveras H, Zafon C, Iglesias C, Marcos-Ruiz J, Gil J, Rueda-Pujol A, González L, Mayor R, Klein Hesselink EN, van Hemel BM, Carrato C, Perelló-Fabregat C, Hernández-Losa J, Somoza R, Pluvinet R, Sánchez-Herrero JF, Sumoy L, Seoane J, Riesco-Eizaguirre G, Montero-Conde C, Robledo M, Hernando J, Capdevila J, Reverter JL, Puig-Domingo M, Links TP, Jordà M

Affiliated Institution / ERN: University Medical Center Groningen ; Hospital Universitari Vall d’Hebron ;

Condition / Disease: Follicular thyroid carcinoma

Publication: Thyroid® v35.5 p494-507 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1089/thy.2024.0303 Keywords: Background: Distant metastases (DM) are the leading cause of thyroid cancer-related death in patients with differentiated thyroid cancer (DTC). Despite significant progress in understanding DNA methylation in DTC, the methylation landscape of metastatic primary tumors and DM remains unclear. Our primary objective was to investigate DNA methylation dynamics during DTC progression, with a secondary goal of assessing potential clinical implications. Materials and Methods: We conducted a multicenter retrospective study in patients with DTC who underwent surgery at five university hospitals. We profiled DNA methylation in a discovery series of 97 samples (15 normal tissues, 30 non-metastatic [non-mDTC], and 35 metastatic [mDTC] primary DTC, and 17 paired metastases [lymph nodes and DM]). Results were validated in an independent series of 17 non-mDTC and 13 mDTC. We used receiver operating characteristic curve analysis to evaluate the identified prognostic CpG-signature. Results: DNA methylation alterations, mostly hypomethylation, increased progressively from primary tumors to DM, both in papillary (PTC) and follicular (FTC) thyroid carcinomas. Compared with normal tissue, non-metastatic primary PTC (non-mPTC) exhibited more hypomethylated than hypermethylated CpGs in contrast to non-metastatic primary FTC (non-mFTC). However, metastatic tumors, both mPTC and mFTC, predominantly exhibited hypomethylated CpGs. The overlap of differentially methylated CpGs (DMe-CpGs) was low between non-mPTC and non-mFTC (14% non-mPTC DMe-CpGs present in non-mFTC) but significantly higher between mPTC and mFTC (60% mPTC DMe-CpGs present in mFTC), underscoring the convergence of epigenetic changes during metastatic progression. The presence of many de novo DMe-CpGs from metastatic primary tumors (83% from mPTC and 40% from mFTC) in DM, including metachronous DM, supports the hypothesis that DM originates from a major subclone of the primary tumor. We identified and validated a 156-CpG signature in primary tumors capable of distinguishing between non-mDTC and mDTC, offering potential prognostic value for DM development regardless of histology. Conclusions: These results show a progressive increase in DNA methylation alterations, mainly hypomethylation, during PTC and FTC metastatic progression, suggesting a linear model, though the DNA methylation dynamics differs between the two histological types. The analysis of the 156-CpG signature in primary tumors may help identify patients with DTC at high risk for DM, enhancing a more personalized treatment

Author(s): Jager EC, McNeil J, Papachristos AJ, Sywak M, Sidhu SB, Siddall R, Hoang J, Schembri GP, Tsang VHM, Wijewardene A, Tacon L, Robinson B, Clifton-Bligh RJ, Bullock M, Brouwers AH, Links TP, Kruijff S, Glover AR, Gild ML

Affiliated Institution / ERN: University Medical Center Groningen ; Karolinska University Hospital ;

Condition / Disease: Follicular thyroid carcinoma

Publication: Thyroid Research v18.1 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1186/s13044-025-00250-x Keywords: Medullary thyroid carcinoma,PET/CT imaging,Response prediction,Tyrosine kinase inhibitors

Author(s): Brinkhof M, de Vries ST, Mol PGM, Trapani D, Marije de Jong I, Broekman KE

Affiliated Institution / ERN: University Medical Center Groningen ; IRCCS Auxologico Italian Institute - Milan ;

Condition / Disease: Follicular thyroid carcinoma

Publication: BMJ Open v15.11 pe101053 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1136/bmjopen-2025-101053 Keywords:

Author(s): Cudizio L, James S, Maruthur NM, Ng SM, Lyons S, Araszkiewicz A, Gomber A, Snoek F, Toft E, Weissberg-Benchell J, de Beaufort C

Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ; Karolinska University Hospital ; Karol Jonscher Clinical Hospital of Poznań University of Medical Sciences ; Amsterdam UMC ;

Condition / Disease: Diabetes mellitus

Publication: Hormone Research in Paediatrics p1-22 Year: 2025 ORPHAcode / other: ORPHA101952

DOI: 10.1159/000545118 Keywords:

Author(s): Agwu JC, Muze KC, Mbogo J, Ameyaw E, Cohen D, Lindholm-Olinder A, Gelder C, de Beaufort C, Ogle GD

Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ; Karolinska University Hospital ;

Condition / Disease: Diabetes mellitus

Publication: Hormone Research in Paediatrics p1-16 Year: 2025 ORPHAcode / other: ORPHA101952

DOI: 10.1159/000546936 Keywords:

Author(s): Bennett JJ, Saint-Martin C, Neumann B, Männistö JME, Houghton JAL, Empting S, Johnson MB, Laver TW, Locke JM, Spurrier B, Wakeling MN, Banerjee I, Dastamani A, Demirbilek H, Mitchell J, Stange M, Abi Warde M, Amrita M, Aravena R, Arion A, Atapattu N, Barić I, Bertherat J, Bilici E, Bouchereau J, Braun K, Campas-Lebecque M, Castanet M, Cessans C, Conwell LS, Dabadghao P, Dayal Arya A, de Lonlay P, de Vries L, Droumaguet C, Faure-Galon N, Gilly O, Goldenberg A, Guemann A, Guerrot A, Harvengt J, Hassan SS, Hui SS, Humayun KN, Ibrahim M, Jain V, Jeevarathnam D, Loke KY, Khadilkar V, Kochar IPS, Kulkarni A, Kumbhojkar A, Lamireau D, Levy-Khademi F, Limbert C, Lindner M, Lombard C, Maillot F, Mention K, Mericq V, Mohamed Z, Mornet C, Murray P, Naccache A, Navasardyan LV, Neville K, Nicolescu R, Nicolino M, Nishimura-Meguro E, Numsriskulrat N, O’sullivan S, Ouarezki Y, Pambou A, Petit F, Praveen VP, Priou-Guesdon M, Radka S, Rami-Merhar B, Rao S, Reznik Y, Rulquin L, Salomon Estebanez M, Souto I, Tabarin A, Tangari A, Van Aken S, Verge C, Vinolas H, Voinot C, Wagner R, Walker J, Wiltshire E, Mohnike K, Arnoux J, Owens NDL, Zenker M, Bellanné-Chantelot C, Flanagan SE

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

Condition / Disease: Familial hyperinsulinism

Publication: Genome Medicine v17.1 Year: 2025 ORPHAcode / other: ORPHA276525

DOI: 10.1186/s13073-025-01440-w Keywords: Congenital hyperinsulinism,Hexokinase 1,Monogenic disease,Non-coding,Variable penetrance

Author(s): Pereira AM, Hiort O

Affiliated Institution / ERN: Amsterdam UMC ; Universitätsklinikum Schleswig-Holstein ;

Condition / Disease: MCT8 deficiency

Publication: European Journal of Endocrinology v193.Supplement_2 pii128-ii131 Year: 2025 ORPHAcode / other: ORPH59

DOI: 10.1093/ejendo/lvaf072 Keywords: EndoCompass,European reference network,rare diseases,roadmap

Author(s): King G, Sloan J, Duddy P, O'Sullivan A, Ó Catháin N, Miletin J, Dempsey S, Moore S, Purna JR, McDermott C, Moran M, James J, Letshwiti JB, Tabery K, Kubátová A, Janota J, Kelleher J

Affiliated Institution / ERN: Motol and Homolka University Hospital ; General University Hospital in Prague ; Beaumont & CHI - Dublin ;

Condition / Disease: Congenital isolated hyperinsulinism

Publication: Archives of Disease in Childhood - Fetal and Neonatal Edition v110.3 p319-325 Year: 2025 ORPHAcode / other: ORPHA657

DOI: 10.1136/archdischild-2024-327313 Keywords:

Author(s): Milioto A, Gatto F, Larsson I, Colao A, Ferone D, Johannsson G, Esposito D

Affiliated Institution / ERN: AOU Federico II - Naples ; IRCCS Ospedale Policlinico San Martino – Genova ; Sahlgrenska University Hospital ;

Condition / Disease: Acromegaly

Publication: Journal of the Endocrine Society v10.1 Year: 2025 ORPHAcode / other: ORPHA963

DOI: 10.1210/jendso/bvaf195 Keywords: acromegaly,biochemical control,cardiovascular risk,metabolism,morbidity,nutrition

Author(s): Holland A, Strong T, Schwartz L, Garrick L, Hoybye C, Tauber M, Hughes M

Affiliated Institution / ERN: CHU de Toulouse ; Karolinska University Hospital ;

Condition / Disease: Prader-Willi syndrome

Publication: Orphanet Journal of Rare Diseases doi:10.1186/s13023-026-04253-1 Year: 2026 ORPHAcode / other: ORPHA739

DOI: 10.1186/s13023-026-04253-1 Keywords:

Author(s): Correa‐da‐Silva F, Berkhout JB, Schouten P, Sinnema M, Stumpel CTRM, Curfs LMG, Höybye C, Mahfouz A, Meijer OC, Pereira AM, Fliers E, Swaab DF, Kalsbeek A, Yi C

Affiliated Institution / ERN: Amsterdam UMC ; Karolinska University Hospital ;

Condition / Disease: Prader-Willi syndrome

Publication: Journal of Neuroendocrinology v37.5 Year: 2025 ORPHAcode / other: ORPHA739

DOI: 10.1111/jne.70015 Keywords:

Author(s): Constantinescu SM, Nava CM, Chasseloup F, Alexopoulou O, Chanson P, Maiter D

Affiliated Institution / ERN: University Hospitals Saint-Luc ; Hôpital Bicêtre ;

Condition / Disease: Prolactinoma

Publication: The Journal of Clinical Endocrinology & Metabolism v110.11 pe3701-e3708 Year: 2025 ORPHAcode / other: ORPHA2965

DOI: 10.1210/clinem/dgaf152 Keywords: dopamine agonist,hormonal replacement therapy,menopause,prolactinoma,remission,withdrawal

Author(s): Papadakis JL, DeLacey S, Snoek FJ, James S, Toft E, Cudizio L, Araszkiewicz A, de Beaufort C, Gomber A, Lyons SK, Maruthur NM, Ng SM, Weissberg-Benchell J

Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ; Amsterdam UMC ; Karol Jonscher Clinical Hospital of Poznań University of Medical Sciences ;

Condition / Disease: Diabetes mellitus

Publication: Clinical Diabetes v43.5 p703-722 Year: 2025 ORPHAcode / other: ORPHA101952

DOI: 10.2337/cd25-0048 Keywords:

Author(s): Arlien-Søborg MC, Radovick S, Boguszewski MCS, Bidlingmaier M, Johannsson G, Grimberg A, Ho KKY, Biller BMK, Choong CS, Hoffman AR, Backeljauw P, Boguszewski CL, Bollerslev J, Brue T, Chanson P, Christ E, Cianfarani S, Clayton PE, Cohen P, Dauber A, Fleseriu M, Gebauer J, Giustina A, Higham CE, Horikawa R, Höybye C, Juul A, Lodish M, Luo X, Mauras N, Miller KK, Melmed S, Neggers SJCMM, Karavitaki N, Rosenfeld R, Ross R, Savendahl L, Schilbach K, Collett-Solberg PF, Strasburger CJ, Tritos NA, van Santen HM, Yuen KCJ, Jorgensen JOL

Affiliated Institution / ERN: Aarhus University Hospital ; AOU Policlinico Umberto I - Rome ; Charité Universitätsmedizin Berlin ; Copenhagen University Hospital, Rigshospitalet ; Erasmus MC: University Medical Center Rotterdam ; Hôpital Bicêtre ; Karolinska University Hospital ; Klinikum der Universität München ; Máxima Medisch Centrum Veldhoven ; Oslo University Hospital ; San Raffaele hospital - Milan ; Sahlgrenska University Hospital ;

Condition / Disease: Pituitary adenoma

Publication: Pituitary v28.3 Year: 2025 ORPHAcode / other: ORPHA99408

DOI: 10.1007/s11102-025-01526-z Keywords: Adult endocrinology,Consensus guideline,Diagnosis,GH stimulation tests,Growth hormone deficiency,Pediatric endocrinology