Author(s): Grasemann C, Gravholt CH, Breen L, Aksglaede L, Lucas-Herald A, Alimussina M, Boettcher C, Wernsmann J, Bauer JJ, Bryce J, Carlomagno F, Hannema SE, Isidori A, Mazen I, Nordenstroem A, Ahmed SF

Affiliated Institution / ERN: Copenhagen University Hospital, Rigshospitalet ; University Medical Center Mainz ; Katholisches Klinikum Bochum ; Aarhus University Hospital ; AOU Policlinico Umberto I - Rome ; Amsterdam UMC ; Karolinska University Hospital ;

Condition / Disease: Maternal Androgens

Publication: Endocrine Connections doi:10.1530/ec-25-0196 Year: 2025 ORPHAcode / other: NO XY CODE

DOI: 10.1530/EC-25-0196 Keywords: Klinefelter syndrome,age-adapted modules,life span,registry,transition

Author(s): Václav Jr. H, Manuela V, Michal K, Adéla K, Jana J, Mikuláš K, Pavel D, David N, Václav M, Martin M, Roman L, Václav H

Affiliated Institution / ERN: General University Hospital in Prague ;

Condition / Disease: Prolactinoma

Publication: Journal of Clinical & Translational Endocrinology v41 p100418 Year: 2025 ORPHAcode / other: ORPHA2965

DOI: 10.1016/j.jcte.2025.100418 Keywords: Dopamine agonist,Giant prolactinoma,Hypogonadism,PitNET

Author(s): Roumpou A, Palermo A, Tournis S, Hasenmajer V, Pasieka JL, Kaltsas G, Isidori A, Kassi E

Affiliated Institution / ERN: General Hospital of Athens “LAIKO” ; AOU Policlinico Umberto I - Rome ;

Condition / Disease: Hyperparathyroidism

Publication: Endocrine Reviews v46.4 p576-620 Year: 2025 ORPHAcode / other: ORPHA181408

DOI: 10.1210/endrev/bnaf010 Keywords: bone,fracture,hyperparathyroidism,hypoparathyroidism,parathyroid disorders,pseudohypoparathyroidism

Author(s): Haffner D, Emma F, Seefried L, Högler W, Javaid KM, Bockenhauer D, Bacchetta J, Eastwood D, Biosse Duplan M, Schnabel D, Wicart P, Ariceta G, Levtchenko E, Harvengt P, Kirchhoff M, Gardiner O, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenický P, Rejnmark L, Linglart A

Affiliated Institution / ERN: Aarhus University Hospital ; Hôpital Bicêtre ;

Condition / Disease: X-linked hypophosphataemia

Publication: Nature Reviews Nephrology v21.5 p330-354 Year: 2025 ORPHAcode / other: ORPHA89936

DOI: 10.1038/s41581-024-00926-x Keywords:

Author(s): Haffner D, Emma F, Seefried L, Högler W, Javaid KM, Bockenhauer D, Bacchetta J, Eastwood D, Biosse Duplan M, Schnabel D, Wicart P, Ariceta G, Levtchenko E, Harvengt P, Kirchhoff M, Gardiner O, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenický P, Rejnmark L, Linglart A

Affiliated Institution / ERN: Hôpital Bicêtre ; Aarhus University Hospital ; Karolinska University Hospital ; Charité Universitätsmedizin Berlin ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Hospices Civils de Lyon ; Hospital Universitari Vall d’Hebron ;

Condition / Disease: X-linked hypophosphataemia

Publication: Nature Reviews Nephrology v21.5 p330-354 Year: 2025 ORPHAcode / other: ORPHA89936

DOI: https://doi.org/10.1038/s41581-024-00926-x Keywords:

Author(s): Esposito E, Marra G, Catalano R, Maioli S, Nozza E, Barbieri AM, Hantel C, Di Dalmazi G, Sigala S, Geginat J, Cassinotti E, Baldari L, Palmieri S, Mangone A, Berruti A, Ferrante E, Mantovani G, Peverelli E

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

Condition / Disease: Adrenocortical carcinoma

Publication: International Journal of Cancer v156.6 p1256-1271 Year: 2025 ORPHAcode / other: ORPHA1501

DOI: 10.1002/ijc.35239 Keywords: Wee1,adavosertib,adrenocortical carcinomas,cell cycle regulation,filamin A,therapeutic target

Author(s): Detomas M, Altieri B, Nasi-Kordhishti I, Ryba A, Haberbosch L, Chierigo F, Deutschbein T, Fassnacht M, Mortini P, Flitsch J, Honegger J, Losa M

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ; San Raffaele hospital - Milan ; University Hospital Würzburg ;

Condition / Disease: Prolactinoma

Publication: Journal of Endocrinological Investigation v48.6 p1363-1370 Year: 2025 ORPHAcode / other: ORPHA2965

DOI: 10.1007/s40618-025-02559-8 Keywords: ACTH deficiency,Adrenal insufficiency,Hypogonadism,Hypothyroidism,Prolactinoma,TSH deficiency

Author(s): Lucas-Herald AK, Aksglaede L, Caspersen ID, Ahmed SF, Carlomagno F, Isidori AM

Affiliated Institution / ERN: Copenhagen University Hospital, Rigshospitalet ; AOU Policlinico Umberto I - Rome ;

Condition / Disease: Other

Publication: Endocrine Reviews doi:10.1210/endrev/bnaf005 Year: 2025 ORPHAcode / other: ORPHA325546

DOI: 10.1210/endrev/bnaf005 Keywords: Klinefelter,bone,cardiovascular,fertility,neurodevelopment,testosterone

Author(s): Fleseriu M, Pivonello R, Newell-Price J, Gadelha MR, Biller BMK, Auchus RJ, Feelders RA, Shimatsu A, Witek P, Bex M, Piacentini A, Pedroncelli AM, Lacroix A

Affiliated Institution / ERN: UZ Leuven ; AOU Federico II - Naples ; Erasmus MC: University Medical Center Rotterdam ;

Condition / Disease: Pituitary adenoma

Publication: Pituitary v28.1 Year: 2025 ORPHAcode / other: ORPHA99408

DOI: 10.1007/s11102-024-01471-3 Keywords: Cortisol normalization,Cushing’s disease,Diabetes,Hypertension,Long-term treatment,Osilodrostat

Author(s): Chiloiro S, Giampietro A, Giambò P, Costanza F, Mattogno PP, Lauretti L, Calandrelli R, Gaudino S, Gessi M, Rindi G, Olivi A, De Marinis L, Doglietto F, Bianchi A, Pontecorvi A, Giustina A

Affiliated Institution / ERN: San Raffaele hospital - Milan ;

Condition / Disease: Acromegaly

Publication: Pituitary v28.1 Year: 2025 ORPHAcode / other: ORPHA963

DOI: 10.1007/s11102-024-01479-9 Keywords: Acromegaly,Growth hormone,High frequency,IGF-I,Lanreotide autogel,Somatostatin,Somatostatin receptor ligands

Author(s): Iughetti L, Antoniazzi F, Giavoli C, Bellone S, Aversa T, Guazzarotti L, Street ME, Miraglia del Giudice E, Persani L, Pozzobon G, Ragusa L, Stagi S, Tornese G, Zecchino C, Mameli C, Zecchi E, Fedeli P, Zabransky M, Lucaccioni L, Zucchini S

Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU University of Campania "Luigi Vanvitelli", Naples ; AOUI Verona ; University Hospital Florence ; San Raffaele hospital - Milan ; Meyer Children’s Hospital Florence ; IRCCS Auxologico Italian Institute - Milan ; AOU-Bologna ; University Hospital of Padova ;

Condition / Disease: Combined pituitary hormone deficiencies, genetic forms

Publication: Endocrine doi:10.1007/s12020-025-04162-6 Year: 2025 ORPHAcode / other: ORPHA95494

DOI: 10.1007/s12020-025-04162-6 Keywords:

Author(s): Furnica RM, Devuyst F, Mathey C, Constantinescu SM, De Herdt C, Alexopoulou O, Lhommel R, Maiter D

Affiliated Institution / ERN: University Hospital Liège ; University Hospitals Saint-Luc ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;

Condition / Disease: Cushing disease

Publication: The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgaf047 Year: 2025 ORPHAcode / other: ORPHA96253

DOI: 10.1210/clinem/dgaf047 Keywords: 11C-Methionine PET/CT,functional imaging,persistent/recurrent Cushing’s disease,therapeutic intervention

Author(s): Claahsen-van der Grinten HL, Adriaansen BPH, Falhammar H

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

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: The Journal of Clinical Endocrinology & Metabolism v110.Supplement_1 pS25-S36 Year: 2025 ORPHAcode / other: ORPHA418

DOI: 10.1210/clinem/dgae718 Keywords: bone health,cardiometabolic health,congenital adrenal hyperplasia,hypergonadotropic hypogonadism,testicular adrenal rest tumors,transition of care

Author(s): Krysiak R, Claahsen-van der Grinten HL, Reisch N, Touraine P, Falhammar H

Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ; Karolinska University Hospital ; Klinikum der Universität München ;

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: Endocrine Reviews v46.1 p80-148 Year: 2025 ORPHAcode / other: ORPHA418

DOI: 10.1210/endrev/bnae026 Keywords: 21-hydroxylase deficiency,androgens,atherosclerosis,blood pressure,cardiovascular disease,glucocorticoids,insulin resistance,risk factors

Author(s): Boogers LS, Brüggenwirth HT, Wolffenbuttel KP, Hersmus R, Bryce J, Ahmed SF, Lucas-Herald AK, Baronio F, Cools M, Ellaithi M, Globa E, Güran T, Hiort O, Holterhus P, MсElreavey K, Niedziela M, Stancampiano MR, Tosun BG, van Bever Y, Oosterhuis JW, Looijenga LHJ, Hannema SE

Affiliated Institution / ERN: Ghent University Hospital ; Amsterdam UMC ; Karol Jonscher Clinical Hospital of Poznań University of Medical Sciences ;

Condition / Disease: Other

Publication: European Journal of Endocrinology v192.1 p34-45 Year: 2025 ORPHAcode / other: ORPHA98085

DOI: 10.1093/ejendo/lvae154 Keywords: 17beta-HSD deficiency,5alpha-reductase deficiency,disorder of sex development,germ cell cancer,hypogonadism,puberty,testis

Author(s): Pieterman CRC, Grozinsky‐Glasberg S, O'Toole D, Howe JR, Ambrosini V, Belli SH, Andreassen M, Begum N, Denecke T, Faggiano A, Falconi M, Grey J, Knigge UP, Kolarova T, Niederle B, Nieveen van Dijkum E, Partelli S, Pascher A, Rindi G, Ruszniewski P, Stättner S, Vandamme T, Valle JW, Vullierme M, Welin S, Perren A, Bartsch DK, Kaltsas GK, Valk GD

Affiliated Institution / ERN: University Medical Center Utrecht ; AOU-Bologna ; Copenhagen University Hospital, Rigshospitalet ; San Raffaele hospital - Milan ; Medical University of Vienna,Center for Rare Endocrinologic Diseases / Dpt. of Internal Medicine III ; Amsterdam UMC ; UZ Antwerpen ;

Condition / Disease: Multiple endocrine neoplasia type 1

Publication: Journal of Neuroendocrinology v37.1 Year: 2025 ORPHAcode / other: ORPHA652

DOI: 10.1111/jne.13468 Keywords: multiple endocrine neoplasia type 1,neuroendocrine tumour,screening,surveillance,survey

Author(s): Verburg FA, de Keizer B

Affiliated Institution / ERN: University Medical Center Utrecht ; Erasmus MC: University Medical Center Rotterdam ;

Condition / Disease: Differentiated thyroid carcinoma

Publication: The Lancet Diabetes & Endocrinology v13.1 p5-6 Year: 2025 ORPHAcode / other: ORPHA146

DOI: 10.1016/S2213-8587(24)00306-1 Keywords:

Author(s): Schmidt I, Vergeer RA, Postma MR, van den Berg G, Sterkenburg AJ, Korsten-Meijer AGW, Feijen RA, Kruijff S, van Beek AP, den Dunnen WFA, Robinson DJ, van Dijk JMC, Nagengast WB, Kuijlen JMA

Affiliated Institution / ERN: University Medical Center Groningen ; Erasmus MC: University Medical Center Rotterdam ;

Condition / Disease: Pituitary adenoma

Publication: European Journal of Nuclear Medicine and Molecular Imaging v52.2 p660-668 Year: 2025 ORPHAcode / other: ORPHA99408

DOI: 10.1007/s00259-024-06947-9 Keywords: Bevacizumab,Pituitary neuroendocrine tumor,Quantitative fluorescence molecular endoscopy,Transsfenoidal surgery

Author(s): Marques-Pamies M, Gil J, Sampedro-Nuñez M, Valassi E, Biagetti B, Giménez-Palop O, Hernández M, Martínez S, Carrato C, Villar-Taibo R, Araujo-Castro M, Blanco C, Simón-Muela I, Simó-Servat A, Xifra G, Vázquez F, Pavón I, Rosado JA, García-Centeno R, Zavala R, Hanzu FA, Mora M, Aulinas A, Vilarrasa N, Librizzi S, Calatayud M, de Miguel P, Alvarez-Escola C, Picó A, Salinas I, Fajardo-Montañana C, Cámara R, Bernabéu I, Jordà M, Webb SM, Marazuela M, Puig-Domingo M

Affiliated Institution / ERN: Hospital de la Santa Creu i Sant Pau ; Hospital Universitari Vall d’Hebron ;

Condition / Disease: Acromegaly

Publication: The Journal of Clinical Endocrinology & Metabolism v110.1 p30-40 Year: 2024 ORPHAcode / other: ORPHA963

DOI: 10.1210/clinem/dgae444 Keywords: acromegaly,clinical trial,first-generation somatostatin receptor ligands,medical treatment,personalized therapy,therapeutic response prediction

Author(s): Barnard‐Kelly K, Marrero D, de Wit M, Pouwer F, Khunti K, Hermans N, Pierce JS, Laffel L, Holt RIG, Battelino T, Naranjo D, Fosbury J, Fisher L, Polonsky W, Weissberg‐Benchell J, Hood KK, Schnell O, Messer LH, Danne T, Nimri R, Skovlund S, Mader JK, Sherr JL, Schatz D, O'Neill S, Doble E, Town M, Lange K, de Beaufort C, Gonder‐Frederick L, Jaser SS, Liberman A, Klonoff D, Elsayed NA, Bannuru RR, Ajjan R, Parkin C, Snoek FJ

Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ; Amsterdam UMC ; University Medical Centre Ljubljana ; Hannoversche Kinderheilanstalt ;

Condition / Disease: Diabetes mellitus

Publication: Diabetic Medicine doi:10.1111/dme.15484 Year: 2024 ORPHAcode / other: ORPHA101952

DOI: 10.1111/dme.15484 Keywords: T1D diabetes,adolescents,children,distress,patient‐reported outcomes,quality of life

Author(s): Rhys-Evans S, d’Aniello F, Alexander EC, Dinah IF, Heger S, Nordenstrom A, Rohayem J, Howard SR

Affiliated Institution / ERN: Karolinska University Hospital ; Charité Universitätsmedizin Berlin ;

Condition / Disease: Combined pituitary hormone deficiencies, genetic forms

Publication: The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgae874 Year: 2024 ORPHAcode / other: ORPHA95494

DOI: 10.1210/clinem/dgae874 Keywords: congenital hypogonadotropic hypogonadism,fertility,gonadotropin deficiency,gonadotropin treatment,mini-puberty

Author(s): Pajno R, Visconti C, Bucolo C, Guarneri MP, Del Barba P, Silvani P, Gregnanin M, Barera G

Affiliated Institution / ERN: San Raffaele hospital - Milan ;

Condition / Disease: Familial hyperinsulinism

Publication: World Journal of Clinical Pediatrics v13.4 Year: 2024 ORPHAcode / other: ORPHA276525

DOI: 10.5409/wjcp.v13.i4.94156 Keywords: Case report,Congenital hyperinsulinism,Diazoxide,Hypoglycemia,Side effect

Author(s): Mosbah H, Vatier C, Andriss B, Belalem I, Delemer B, Janmaat S, Bouhnik A, Le Collen L, Maiter D, Nobécourt E, Vantyghem M, Vigouroux C, Dumas A

Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; University Hospitals Saint-Luc ;

Condition / Disease: Familial partial lipodystrophy Type 1

Publication: The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgae837 Year: 2024 ORPHAcode / other: ORPHA98306

DOI: 10.1210/clinem/dgae837 Keywords: lipodystrophy syndrome,psychosocial impact,quality of life,rare disease,self-report,well-being

Author(s): Biagetti B, Cordero Asanza E, García-Feijoo P, Araujo-Castro M, Rodríguez Berrocal V, Serra G, Guerrero-Pérez F, Cámara R, Lamas C, Ollero García MD, Vicente A, Irigaray Echarri A, Villar-Taibo R, Moure Rodríguez MD, Pérez-López C, González-Molero I, Sánchez Ramírez MN, Gutiérrez Hurtado A, Capristan-Díaz V, Simó-Servat A, Gallach M, Safont Pérez E, González Rosa V, Civantos S, Martinez-Saez E, García-Arabehety J, Menéndez Torre E, Aulinas A, Iglesias P, Díez JJ, Bernabéu I, Álvarez-Escolá C, Puig-Domingo M

Affiliated Institution / ERN: Hospital de la Santa Creu i Sant Pau ; Hospital Universitari Vall d’Hebron ;

Condition / Disease: Acquired pituitary hormone deficiency

Publication: Neurosurgery doi:10.1227/neu.0000000000003281 Year: 2024 ORPHAcode / other: ORPHA95502

DOI: 10.1227/neu.0000000000003281 Keywords:

Author(s): De Vincentis S, Evangelisti S, Rossi B, Decaroli MC, Locaso M, Ansaloni A, Ferrara F, Corradini E, Pietrangelo A, Rochira V

Affiliated Institution / ERN: AOU - Modena ; ERN BOND ; ERN BOND ;

Condition / Disease: Hypoparathyroidism

Publication: Endocrine v87.3 p1257-1266 Year: 2024 ORPHAcode / other: ORPHA181405

DOI: 10.1007/s12020-024-04124-4 Keywords: Calcium/phosphorous ratio,Hemochromatosis,Hyperphosphatemia,Hypocalcemia,Parathyroid,Thalassemia

Author(s): Hannema SE, Busiah K, Butler G, Claahsen-van de Grinten HL, Cools M, Gawlik-Starzyk AM, Klink D, Main KM, Martinerie L, Richter-Unruh A, Skordis N, de Vries MC

Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ; Ghent University Hospital ;

Condition / Disease: Transgender, female to male

Publication: Hormone Research in Paediatrics p1-41 Year: 2024 ORPHAcode / other: ICD-10 F64

DOI: 10.1159/000542904 Keywords:

Author(s): Hasenmajer V, Sbardella E, Sciarra F, Simeoli C, Pivonello C, Ceccato F, Pofi R, Minnetti M, Rizzo F, Ferrari D, Bonaventura I, Barbagallo F, Giannetta E, Alunni Fegatelli D, Conia S, Navigli R, Arnaldi G, Scaroni C, Pivonello R, Gianfrilli D, Venneri MA, Isidori AM

Affiliated Institution / ERN: AOU Federico II - Naples ; AOU Policlinico Umberto I - Rome ; University Hospital of Padova ;

Condition / Disease: Cushing syndrome due to cortisol-producing adrenocortical adenoma

Publication: eBioMedicine v110 p105462 Year: 2024 ORPHAcode / other: ORPHA647758

DOI: 10.1016/j.ebiom.2024.105462 Keywords: Circadian rhythm,Cushing's syndrome,Glucocorticoids,Hypercortisolism,Immune system

Author(s): di Filippo L, Franzese V, Santoro S, Doga M, Giustina A

Affiliated Institution / ERN: San Raffaele hospital - Milan ;

Condition / Disease: Pituitary adenoma

Publication: Pituitary v27.6 p955-969 Year: 2024 ORPHAcode / other: ORPHA99408

DOI: 10.1007/s11102-024-01442-8 Keywords: Adrenal insufficiency,COVID-19,Growth hormone deficiency,Hypogonadism,Hypopituitarism,Long COVID,Pituitary,SARS-CoV-2

Author(s): Pérez‐Torres Lobato MR, Morell M, Solano‐Páez P, Ortiz‐Palacios M, Menárgez Ã, Panesso M, Vázquez‐Gómez F, Moreno‐Carrasco J, Lassaletta Ã, Santa‐María V, Pavon‐Mengual M, Quiroga E, García‐Ariza MA, Mora‐Matilla M, Garrido‐Colino C, Verdú‐Amoros J, Nova‐Lozano C, Vieito M, Cordero‐Asanza EX, Clemente M, Ramos‐Albiat M, de las Morenas‐Iglesias J, Moreno L, Llort A

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

Condition / Disease: Craniopharyngioma

Publication: Pediatric Blood & Cancer v71.12 Year: 2024 ORPHAcode / other: ORPHA54595

DOI: 10.1002/pbc.31343 Keywords: craniopharyngioma,hypothalamus,pediatrics,quality of life,treatment

Author(s): Tombolini B, Battista M, Borrelli E, Frontino G, Bandello F, Barboni P, Cascavilla ML

Affiliated Institution / ERN: San Raffaele hospital - Milan ;

Condition / Disease: Wolfram syndrome

Publication: Journal of Neuro-Ophthalmology v44.4 pe544-e546 Year: 2024 ORPHAcode / other: ORPHA3463

DOI: 10.1097/WNO.0000000000001981 Keywords: