Endo-ERN Publications Database
940 publication(s) found matching the search criteria
Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction
Author(s):
Tauber M, Hoybye C
Affiliated Institution / ERN:
CHU de Toulouse ;
Condition / Disease:
Prader-Willi syndrome
Publication:
The Lancet Diabetes & Endocrinology v9.4 p235-246
Year:
2021
ORPHAcode / other:
ORPHA739
Generation and Differentiation of Adult Tissue-Derived Human Thyroid Organoids
Author(s):
Ogundipe VM, Groen AH, Hosper N, Nagle PW, Hess J, Faber H, Jellema AL, Baanstra M, Links TP, Unger K, Plukker JT, Coppes RP
Affiliated Institution / ERN:
Klinikum der Universität München ; University Medical Center Groningen ;
Condition / Disease:
Thyroid regeneration
Publication:
Stem Cell Reports v16.4 p913-925
Year:
2021
ORPHAcode / other:
DOI:
10.1016/j.stemcr.2021.02.011
Keywords:
hypothyroidism,regeneration,stem cells,thyroglobulin,thyroid cancer,thyroid-tissue-derived organoids,xeno-transplanation
HOMA-IR in acromegaly: a systematic review and meta-analysis
Author(s):
Biagetti B, Aulinas A, Casteras A, Pérez-Hoyos S, Simó R
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ; Hospital de la Santa Creu i Sant Pau ;
Condition / Disease:
Acromegaly
Publication:
Pituitary v24.2 p146-158
Year:
2021
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s11102-020-01092-6
Keywords:
Acromegaly,Diabetes mellitus,HOMA,Insulin resistance,Meta-analysis
SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis
Author(s):
Lambert S, Peycelon M, Samara‐Boustani D, Hyon C, Dumeige L, Peuchmaur M, Fiot E, Léger J, Simon D, Paye‐Jaouen A, Bouligand J, Siffroi J, Carel J, McElreavey K, El Ghoneimi A, Brachet C, Bouvattier C, Martinerie L
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; University Hospital Liège ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Hôpital Bicêtre ;
Condition / Disease:
Ovotesticular DSD
Publication:
Clinical Endocrinology v94.4 p667-676
Year:
2021
ORPHAcode / other:
ORPHA2138
DOI:
10.1111/cen.14389
Keywords:
46,XX-SRY-negative DSD,GnRH analog,minipuberty,ovotesticular DSD,testicular DSD
Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO
Author(s):
Ziegler A, Denommé‐Pichon A, Boucher S, Bouzamondo N, Colin E, Dieu X, Jean Yves T, Bouhours N, Rouleau S, Coutant R, Rodien P, Prunier D, Bonneau D
Affiliated Institution / ERN:
CHU d'Angers ;
Condition / Disease:
Congenital hypothyroidism
Publication:
Clinical Genetics v99.4 p604-606
Year:
2021
ORPHAcode / other:
ORPHA442
Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations
Author(s):
Casar-Borota O, Boldt H, Engström B, Andersen MS, Baussart B, Bengtsson D, Berinder K, Ekman B, Feldt-Rasmussen U, Höybye C, Jørgensen JOL, Kolnes AJ, Korbonits M, Rasmussen ÃK, Lindsay JR, Loughrey PB, Maiter D, Manojlovic-Gacic E, Pahnke J, Poliani PL, Popovic V, Ragnarsson O, Schalin-Jäntti C, Scheie D, Tóth M, Villa C, Wirenfeldt M, Kunicki J, Burman P
Affiliated Institution / ERN:
Karolinska University Hospital ; Copenhagen University Hospital, Rigshospitalet ; Aarhus University Hospital ; Oslo University Hospital ; University Hospitals Saint-Luc ; Universitätsklinikum Schleswig-Holstein ; Sahlgrenska University Hospital ; Helsinki University Hospital (HUS) ; Semmelweis University ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; University Hospital Liège ; Maria Sklodowska-Curie National Research Institute of Oncology (MSCNRIO) ;
Condition / Disease:
Cushing disease
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.4 pe1183-e1194
Year:
2021
ORPHAcode / other:
ORPHA96253
DOI:
10.1210/clinem/dgaa749
Keywords:
ATRX (alpha thalassemia/mental retardation syndrome X-linked),Cushing’s disease,aggressive PitNETs,pituitary adenoma,pituitary carcinoma
Targeted Metabolomics as a Tool in Discriminating Endocrine From Primary Hypertension
Author(s):
Erlic Z, Reel P, Reel S, Amar L, Pecori A, Larsen CK, Tetti M, Pamporaki C, Prehn C, Adamski J, Prejbisz A, Ceccato F, Scaroni C, Kroiss M, Dennedy MC, Deinum J, Langton K, Mulatero P, Reincke M, Lenzini L, Gimenez-Roqueplo A, Assié G, Blanchard A, Zennaro MC, Jefferson E, Beuschlein F
Affiliated Institution / ERN:
Condition / Disease:
Pheochromocytoma and paraganglioma, Cushing syndrome, Primary aldosteronism
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.4 pe1111-e1128
Year:
2021
ORPHAcode / other:
ORPHA573163, ORPHA553, ORPHA181415
DOI:
10.1210/clinem/dgaa954
Keywords:
Cushing syndrome,arterial hypertension,pheochromocytoma,primary aldosteronism,screening,targeted metabolomics
Distant Metastases From Childhood Differentiated Thyroid Carcinoma: Clinical Course and Mutational Landscape
Author(s):
Nies M, Vassilopoulou-Sellin R, Bassett RL, Yedururi S, Zafereo ME, Cabanillas ME, Sherman SI, Links TP, Waguespack SG
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.4 p1683-1697
Year:
2021
ORPHAcode / other:
ORPHA146
DOI:
10.1210/clinem/dgaa935
Keywords:
fusion gene,lung metastasis,pediatric thyroid cancer,prognosis,somatic mutation,stage II
Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease
Author(s):
Hokken-Koelega A, Reincke M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium
Author(s):
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux J, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J
Affiliated Institution / ERN:
UZ Leuven ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Ghent University Hospital ; University Hospitals Saint-Luc ; University Hospital Liège ;
Condition / Disease:
X-linked hypophosphataemia
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA89936
DOI:
10.3389/fendo.2021.641543
Keywords:
X-linked hypophosphatemia,burosumab,fibroblast growth factor 23 (FGF23),osteomalacia,rickets,vitamin D
European Reference Networks: challenges and opportunities
Author(s):
Birute Tumiene, Holm Graessner, Irene MJ Mathijssen, Alberto M Pereira, Franz Schaefer, Maurizio Scarpa, Jean-Yves Blay, Helene Dollfus & Nicoline Hoogerbrugge
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Journal of Community Genetics 2021
Year:
2021
ORPHAcode / other:
Disease and Treatment-Related Burden in Patients With Acromegaly Who Are Biochemically Controlled on Injectable Somatostatin Receptor Ligands
Author(s):
Fleseriu M, Molitch M, Dreval A, Biermasz NR, Gordon MB, Crosby RD, Ludlam WH, Haviv A, Gilgun-Sherki Y, Mathias SD
Affiliated Institution / ERN:
Leiden University Medical Center ;
Condition / Disease:
Acromegaly
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA963
DOI:
10.3389/fendo.2021.627711
Keywords:
Acro-TSQ,acromegaly,burden,patient-reported outcome,quality of life,somatostatin receptor ligands
Multiple Endocrine Neoplasia Type 1: Latest Insights
Author(s):
Brandi ML, Agarwal SK, Perrier ND, Lines KE, Valk GD, Thakker RV
Affiliated Institution / ERN:
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
Endocrine Reviews v42.2 p133-170
Year:
2021
ORPHAcode / other:
ORPHA652
DOI:
10.1210/endrev/bnaa031
Keywords:
MEN1,epigenetics,menin,mouse models,mutation-negative,neuroendocrine tumors,pharmacological therapies,phenocopy,quality of life,surgical approaches
Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology
Author(s):
Paul van Trotsenburg, Athanasia Stoupa, Juliane Léger, Tilman Rohrer, Catherine Peters, Laura Fugazzola, Alessandra Cassio, Claudine Heinrichs, Veronique Beauloye, Joachim Pohlenz, Patrice Rodien, Regis Coutant, Gabor Szinnai, Philip Murray, Beate Bartés, Dominique Luton, Mariacarolina Salerno, Luisa de Sanctis, Mariacristina Vigone, Heiko Krude, Luca Persani, and Michel Polak
Affiliated Institution / ERN:
Condition / Disease:
Congenital Hypothyroidism
Publication:
Mary Ann Liebert, Inc ThyroidVol. 31, No. 3
Year:
2021
ORPHAcode / other:
ORPHA442
Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings
Author(s):
Naafs JC, Marchal JP, Fliers E, Verkerk PH, Luijten MAJ, Boelen A, van Trotsenburg ASP, Zwaveling-Soonawala N
Affiliated Institution / ERN:
Condition / Disease:
Central congenital hypothyroidism
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.3 pe1231-e1239
Year:
2021
ORPHAcode / other:
ORPHA226298
DOI:
10.1210/clinem/dgaa901
Keywords:
IQ,central hypothyroidism,cognitive outcome,congenital hypopituitarism,congenital hypothyroidism,neonatal screening
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort
Author(s):
Capalbo D, Moracas C, Cappa M, Balsamo A, Maghnie M, Wasniewska MG, Greggio NA, Baronio F, Bizzarri C, Ferro G, Di Lascio A, Stancampiano MR, Azzolini S, Patti G, Longhi S, Valenzise M, Radetti G, Betterle C, Russo G, Salerno M
Affiliated Institution / ERN:
National Institute of Children's Diseases ; Public Pediatric Teaching Hospital ; Semmelweis University ; Medical University of Vienna,Center for Disorders of Sex Development / Dpt. of Pediatrics ; AOU Federico II - Naples ; IRCCS Istituto Giannina Gaslini, Genova ; IRCCS Ospedale Policlinico San Martino – Genova ; AOU polyclinic "G.Martino" of Messina ; University Hospital of Padova ; San Raffaele hospital - Milan ;
Condition / Disease:
Primary adrenal insufficiency
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.3 p762-773
Year:
2021
ORPHAcode / other:
ORPHA101958
DOI:
10.1210/clinem/dgaa881
Keywords:
Addison’s disease,Primary adrenal insufficiency,adrenal crisis,adult height
Targeted use of intraoperative frozen-section analysis lowers the frequency of completion thyroidectomy
Author(s):
Staubitz JI, Elmrich I, Musholt PB, Cámara RJA, Watzka F, Dralle H, Sekulla C, Lorenz K, Musholt TJ, Vorländer C, Lorenz K, Blankenburg C, Geffcken C, Steinmüller T, Trupka A, Steinert F, Schabram J, Albrecht L, Marschall C, Orlitsch C, Holzner K, Feller J, Weber T, Kaltofen D, Simon D, Kube R, Schultz K, Sahm M, Obermeier J, Roth C, Janson K, Thomusch O, Meier H, Weinhold A, Müller N, Tonndorf G, Sinn D, Klein E, Henke G, Rampf W, Rendel K, Cupisti K, Holzer K, Grothe D, Axt L, Müller I, Probst W, Guhr C, Schischke F, Schwörig T, Konrad Hospital M, Fielitz J, Stets R, Liese M, Weiss CL, Zaage J, Bräuer T, Weitz J, Huster A, Kidess E, Lautermann J, Kizilirmak N, Jannasch O, Bittscheidt H, Lehmann D, Kröll KP, Musholt TJ, Sonsnowska C, Lorenc Z, Dudesek B, Smutny S, Brauckhoff M, Bareck E, Köberle-Wührer R
Affiliated Institution / ERN:
Bergen Hospital Trust ;
Condition / Disease:
Thyroid carcinoma
Publication:
BJS Open v5.2
Year:
2021
ORPHAcode / other:
ORPHA100088
New genetics in congenital hypothyroidism
Author(s):
Stoupa A, Kariyawasam D, Muzza M, de Filippis T, Fugazzola L, Polak M, Persani L, Carré A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine v71.3 p696-705
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s12020-021-02646-9
Keywords:
Congenital hypothyroidism,Dyshormonogenesis,Epigenetics,Genetics,Oligogenism,Thyroid dysgenesis
MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia
Author(s):
Claahsen-van der Grinten HL, Stikkelbroeck N, Falhammar H, Reisch N
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ; Karolinska University Hospital ; Klinikum der Universität München ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
European Journal of Endocrinology v184.3 pR85-R97
Year:
2021
ORPHAcode / other:
ORPHA418
The antidiabetic drug glibenclamide exerts direct retinal neuroprotection
Author(s):
Berdugo M, Delaunay K, Naud M, Guegan J, Moulin A, Savoldelli M, Picard E, Radet L, Jonet L, Djerada Z, Gozalo C, Daruich A, Beltrand J, Jeanny J, Kermorvant-Duchemin E, Crisanti P, Polak M, Behar-Cohen F
Affiliated Institution / ERN:
Condition / Disease:
Neonatal diabetes
Publication:
Translational Research v229 p83-99
Year:
2021
ORPHAcode / other:
ORPHA224
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
Author(s):
Brinkmann J, Lissewski C, Pinna V, Vial Y, Pantaleoni F, Lepri F, Daniele P, Burnyte B, Cuturilo G, Fauth C, Gezdirici A, Kotzot D, Güleç EY, Iotova V, Schanze D, Ramond F, Havlovicová M, Utine GE, Simsek-Kiper PO, Stoyanova M, Verloes A, De Luca A, Tartaglia M, Cavé H, Zenker M
Affiliated Institution / ERN:
Universitätsklinikum Magdeburg ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; UMHAT “Sveta Marina” (Varna) ; Motol and Homolka University Hospital ;
Condition / Disease:
Noonan Syndrome
Publication:
European Journal of Human Genetics v29.3 p524-527
Year:
2021
ORPHAcode / other:
ORPHA648
Second primary neoplasms in patients with lung and gastroenteropancreatic neuroendocrine neoplasms: Data from a retrospective multi-centric study
Author(s):
Massironi S, Campana D, Pusceddu S, Albertelli M, Faggiano A, Panzuto F, Smiroldo V, Andreasi V, Rossi R, Maggio I, Torchio M, Dotto A, Modica R, Rinzivillo M, Carnaghi C, Partelli S, Fanetti I, Lamberti G, Corti F, Ferone D, Colao A, Annibale B, Invernizzi P, Falconi M
Affiliated Institution / ERN:
AOU-Bologna ; San Raffaele hospital - Milan ; AOU Federico II - Naples ; ERN BOND ;
Condition / Disease:
Gastroenteropancreatic neuroendocrine neoplasm
Publication:
Digestive and Liver Disease v53.3 p367-374
Year:
2021
ORPHAcode / other:
ORPHA100092
DOI:
10.1016/j.dld.2020.09.031
Keywords:
Neuroendocrine neoplasms (NEN),Neuroendocrine tumors (NET),Second primary malignancy (SPM),Second primary neoplasia
Prevalence of lifetime eating disorders in infertile women seeking pregnancy with pulsatile gonadotropin-releasing hormone therapy
Author(s):
Barbosa-Magalhaes I, Corcos M, Galey J, Perdigao-Cotta S, Papastathi C, de Crecy M, Nicolas I, Lamas C, Christin-Maître S, Pham-Scottez A
Affiliated Institution / ERN:
Condition / Disease:
Kallmann Syndrome
Publication:
Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity v26.2 p709-715
Year:
2021
ORPHAcode / other:
ORPHA478
DOI:
10.1007/s40519-020-00893-9
Keywords:
Anorexia nervosa,Eating disorders,GnRH pulsatile treatment,Hypothalamic amenorrhea,Infertility
Basal and stimulated calcitonin for the diagnosis of medullary thyroid cancer: updated thresholds and safety assessment
Author(s):
Fugazzola L, Di Stefano M, Censi S, Repaci A, Colombo C, Grimaldi F, Magri F, Pagotto U, Iacobone M, Persani L, Mian C
Affiliated Institution / ERN:
Reference centre for rare diseases of calcium and phosphate-HEGP ; Medical University of Vienna,Center for Rare Diabetes and Congenital Hyperinsulinism / Dpt. of Pedia ;
Condition / Disease:
Medullary thyroid carcinoma
Publication:
Journal of Endocrinological Investigation v44.3 p587-597
Year:
2021
ORPHAcode / other:
ORPHA1332
DOI:
10.1007/s40618-020-01356-9
Keywords:
Bradycardia,Calcitonin,Calcium test,Cut-off,Medullary thyroid cancer
Novel model to study the physiological effects of temporary or prolonged sex steroid deficiency in male mice
Author(s):
Kim NR, Khalil R, David K, Antonio L, Schollaert D, Deboel L, Van Herck E, Wardenier N, Cools M, Decallonne B, Claessens F, Dubois V, Vanderschueren D
Affiliated Institution / ERN:
UZ Leuven ; Ghent University Hospital ;
Condition / Disease:
Sex steroid deficiency
Publication:
American Journal of Physiology-Endocrinology and Metabolism v320.3 pE415-E424
Year:
2021
ORPHAcode / other:
DOI:
10.1152/ajpendo.00401.2020
Keywords:
body composition,bone,delayed puberty,hypogonadotropic hypogonadism,sex steroid deficiency
Possible protective role of metformin therapy on colonic polyps in acromegaly: an exploratory cross-sectional study
Author(s):
Albertelli M, Nazzari E, Dotto A, Grasso LF, Sciallero S, Pirchio R, Rebora A, Boschetti M, Pivonello R, Ricci Bitti S, Colao AAL, Ferone D
Affiliated Institution / ERN:
AOU Federico II - Naples ; IRCCS Ospedale Policlinico San Martino – Genova ;
Condition / Disease:
Acromegaly
Publication:
European Journal of Endocrinology v184.3 p419-425
Year:
2021
ORPHAcode / other:
ORPHA963
Functional Prognostic value of optical coherence tomography in optic chiasmal decompression: A preliminary study
Author(s):
Mambour N, Maiter D, Duprez T, Costa E, Fomekong E, Raftopoulos C, Bugli C, Boschi A
Affiliated Institution / ERN:
University Hospitals Saint-Luc ;
Condition / Disease:
Sellar and parasellar tumours
Publication:
Journal Français d'Ophtalmologie v44.3 p321-330
Year:
2021
ORPHAcode / other:
ORPHA99408, ORPHA54595, ORPHA2495
DOI:
10.1016/j.jfo.2020.06.041
Keywords:
Chiasmal compression,Compression chiasmatique,Functional predictive value,Ganglion Cell Complex,Optical coherence tomography,Récupération visuelle,Seuil,Threshold,Valeur prédictive fonctionnelle,Visual recovery
The prevalence of silent acromegaly in prolactinomas is very low
Author(s):
Bona C, Prencipe N, Jaffrain-Rea ML, Carosi G, Lanzi R, Ambrosio MR, Pasquali D, Vettor R, Cannavò S, Ghigo E, Grottoli S
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Journal of Endocrinological Investigation v44.3 p531-539
Year:
2021
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s40618-020-01338-x
Keywords:
Cabergoline,Dopamine agonists,Prolactinoma,Silent acromegaly
Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?
Author(s):
Ho K, Fleseriu M, Kaiser U, Salvatori R, Brue T, Lopes MB, Kunz P, Molitch M, Camper SA, Gadelha M, Syro LV, Laws E, Reincke M, Nishioka H, Grossman A, Barkan A, Casanueva F, Wass J, Mamelak A, Katznelson L, van der Lely AJ, Radovick S, Bidlingmaier M, Boguszewski M, Bollerslev J, Hoffman AR, Oyesiku N, Raverot G, Ben-Shlomo A, Fowkes R, Shimon I, Fukuoka H, Pereira AM, Greenman Y, Heaney AP, Gurnell M, Johannsson G, Osamura RY, Buchfelder M, Zatelli MC, Korbonits M, Chanson P, Biermasz N, Clemmons DR, Karavitaki N, Bronstein MD, Trainer P, Melmed S
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Marseille ; Klinikum der Universität München ; Erasmus MC: University Medical Center Rotterdam ; Oslo University Hospital ; Hospices Civils de Lyon ; Leiden University Medical Center ; Sahlgrenska University Hospital ; AOU - Ferrara ; Hôpital Bicêtre ;
Condition / Disease:
Pituitary adenoma
Publication:
Journal of the Endocrine Society v5.3
Year:
2021
ORPHAcode / other:
ORPHA99408
Impact of Long-Term Growth Hormone Replacement Therapy on Metabolic and Cardiovascular Parameters in Adult Growth Hormone Deficiency: Comparison Between Adult and Elderly Patients
Author(s):
Scarano E, Riccio E, Somma T, Arianna R, Romano F, Di Benedetto E, de Alteriis G, Colao A, Di Somma C
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Pituitary deficiency
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA101957
DOI:
10.3389/fendo.2021.635983
Keywords:
cardiovascular,elderly,growth hormone (GH) treatment,hypopituitarism,metabolism