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Endo-ERN Publications Database

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1008 publication(s) found matching the search criteria

Efficacy and safety of automated insulin delivery in children aged 2–6 years (LENNY): an open-label, multicentre, randomised, crossover trial


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

Neonatal diabetes–associated missense PDX1 variant disrupts chromatin association and protein-protein interaction


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

EndoCompass project: research roadmap for thyroid endocrinology


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

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review


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)

Relationship between plasma urea and copeptin in response to arginine stimulation in healthy adults, patients with vasopressin deficiency and primary polydipsia


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

Utility of disease probability scores to guide decision-making during screening for phaeochromocytoma and paraganglioma: a machine learning modelling cross sectional study


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

European Society for Paediatric Endocrinology and European Society of Endocrinology Joint Clinical Practice Guidance for Healthcare Transition from Paediatric to Adult Endocrine Care


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

Clinical applications of human organoids


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

Toxicity and Quality of Life After Locoregional Radiotherapy in Patients With Thyroid Cancer


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

A nationwide study evaluating indications and outcomes for adrenalectomy in children in the Netherlands


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

Association of Catecholamines with Blood Glucose and Severity of Illness in Infants Born Preterm


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

Genotype-specific neoplastic risk profiles in patients with VHL disease


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

Revised European Society of Endocrinology Clinical Practice Guideline: Treatment of Chronic Hypoparathyroidism in Adults


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

Patient-derived medullary thyroid cancer organoids: a potential model for mechanistic studies on diagnostics and therapy


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:

Quantified Fluorescence Imaging for the Perfusion of the Parathyroid Glands of Children (FLUOPATCH): A Multicenter, Proof-of-Concept Study


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

DNA Methylation Dynamics and Prognostic Implications in Metastatic Differentiated Thyroid Cancer


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

Validation of the International Medullary Thyroid Cancer Grading System and Identification of EZH2 as a Prognostic and Potential Therapeutic Marker in Medullary Thyroid Cancer


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:

Transition between pediatric and adult diabetes healthcare services: an online global survey of experiences and perceptions of young people with diabetes and their carers


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:

Views of European Union medicine regulators and healthcare professionals on the approved versus prescribed dose of protein kinase inhibitors: an interview study


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

The utility of 68Ga-DOTATATE and 18F-FDG PET/CT in predicting the response to tyrosine kinase inhibitors in patients with advanced medullary thyroid cancer


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

ADECA: A novel course for training Paediatric Diabetes Nurse Educators in Sub-Saharan Africa


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:

Patient advocacy group perspectives on treatment priorities and clinical trials for the rare neurodevelopmental condition, Prader-Willi syndrome


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

Impact of Nutrition on Somatotroph Axis: A Potential Role in Acromegaly and Its Cardiovascular Risk?


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

Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader–Willi syndrome subjects


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:

Delivery room dextrose gel for preterm hypoglycaemia (the GEHPPI study): a randomised placebo-controlled trial


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

EndoCompass project: rare diseases in endocrinology


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

Menopause Has a Beneficial Influence on the Evolution of Prolactinomas. A Study of 99 Patients


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

A Systematic Review of Factors Associated With Transition Readiness and the Transfer to Adult Health Care for Young People With Diabetes


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:

Consensus and controversies about diagnosing GH deficiency: a Delphi survey by the GH research society


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

Consensus on acromegaly therapeutic outcomes: an update


Author(s): Melmed S, di Filippo L, Fleseriu M, Mercado M, Karavitaki N, Gurnell M, Salvatori R, Tsagarakis S, Losa M, Maffei P, Pereira AM, Geer EB, Katznelson L, van der Lely AJ, Bollerslev J, Esposito D, Webb SM, Zatelli MC, Valassi E, Neggers S, Chanson P, Ho KKY, Ioachimescu AG, Biller BMK, Samson SL, Kaiser UB, Schilbach K, Luque RM, Casanueva FF, Shimon I, Boguszewski CL, Biermasz N, Colao A, Pirchio R, Lamberts SWJ, Kadioglu P, Buchfelder M, Frara S, Chiloiro S, Petersenn S, Gadelha MR, Puig-Domingo M, Luger A, Brue T, Beckers A, Ferone D, Clemmons DR, Greenman Y, Marazuela M, Mortini P, Strasburger CJ, Giustina A
Affiliated Institution / ERN: Amsterdam UMC ; University Hospital of Padova ; AOU Federico II - Naples ; AOU - Ferrara ; Erasmus MC: University Medical Center Rotterdam ; Evangelismos General Hospital ; Hôpital Bicêtre ; Oslo University Hospital ; San Raffaele hospital - Milan ; Sahlgrenska University Hospital ;
Condition / Disease: Acromegaly
Publication: Nature Reviews Endocrinology v21.11 p718-737 Year: 2025 ORPHAcode / other: ORPHA963

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