Author(s): Palumbo S, Cirillo G, Sanchez G, Aiello F, Fachin A, Baldo F, Pellegrin MC, Cassio A, Salerno M, Maghnie M, Faienza MF, Wasniewska M, Fintini D, Giacomozzi C, Ciccone S, Miraglia del Giudice E, Tornese G, Grandone A

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

Condition / Disease: DLK1 defect; idiopathic central precocious puberty;

Publication: Journal of Endocrinological Investigation v46.6 p1233-1240 Year: 2022 ORPHAcode / other: ORPHA650182

DOI: 10.1007/s40618-022-01997-y Keywords: DLK1,Genetics,Mutations,Precocious puberty, molecular screening

Author(s): Berton AM, Prencipe N, Bertero L, Baldi M, Bima C, Corsico M, Bianchi A, Mantovani G, Ferraù F, Sartorato P, Gagliardi I, Ghigo E, Grottoli S

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

Condition / Disease: Acromegaly

Publication: Journal of Clinical Medicine v12.1 p25 Year: 2022 ORPHAcode / other: ORPHA963

DOI: 10.3390/jcm12010025 Keywords: CAM5.2 granulation pattern,SSTR2,first-generation somatostatin receptor ligands,growth hormone-secreting adenoma,magnetic resonance imaging,precision medicine

Author(s): Poitou C, Holland A, Höybye C, de Graaff LCG, Bottius S, Otterlei B, Tauber M

Affiliated Institution / ERN:

Condition / Disease:

Publication: Endocrine Connections Volume 12: Issue 1 Year: 2022 ORPHAcode / other:

DOI: 10.1530/ec-22-0373 Keywords:

Author(s): Zamanipoor Najafabadi AH, van der Meulen M, Priego Zurita AL, Ahmed SF, van Furth WR, Charmandari E, Hiort O, Pereira A, Dattani M, Vitali D, de Graaf J, Biermasz N

Affiliated Institution / ERN: Leiden University Medical Center ; Assistance Publique-Hôpitaux de Marseille ; IRCCS Ospedale Policlinico San Martino – Genova ; Universitätsklinikum Schleswig-Holstein ; University Hospital Essen ;

Condition / Disease: Pituitary adenoma

Publication: Endocrine Connections Volume 12: Issue 1 Year: 2022 ORPHAcode / other: ORPHA99408

DOI: 10.1530/ec-22-0349 Keywords: Endo-ERN,pituitary,registry,surgery

Author(s): Beun JG, Burman P, Kämpe O, Husebye ES, Hahner S, Kristensen J, Noordzij A, Dahlqvist P

Affiliated Institution / ERN:

Condition / Disease:

Publication: Endocrine Connections Volume 12: Issue 1 Year: 2022 ORPHAcode / other:

DOI: 10.1530/EC-22-0345 Keywords:

Author(s): Dżygało K, Indulska K, Szypowska A

Affiliated Institution / ERN: Public Pediatric Teaching Hospital ;

Condition / Disease: Diabetes mellitus type 1

Publication: Acta Diabetologica v60.3 p337-343 Year: 2022 ORPHAcode / other: ORPHA181371

DOI: 10.1007/s00592-022-02012-9 Keywords: High-protein beverage,Insulin pump,Postprandial glycemia,Pure-protein beverage,Square bolus

Author(s): Webb SM, Kristensen J, Nordenström A, Vitali D, Amodru V, Wiehe LK, Bolz-Johnson M

Affiliated Institution / ERN:

Condition / Disease:

Publication: Endocrine Connections Volume 11: Issue 12 Year: 2022 ORPHAcode / other:

DOI: 10.1530/ec-22-0385 Keywords:

Author(s): Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus P, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R

Affiliated Institution / ERN: Aarhus University Hospital ;

Condition / Disease: DSD

Publication: Endocrine Connections v11.12 Year: 2022 ORPHAcode / other: ORPHA98085; ORPHA2982; ORPHA325546

DOI: 10.1530/ec-22-0367 Keywords: congenital hypogonadotropic hypogonadism,disorders of sex development,next-generation sequencing,primary ovarian insufficiency,rare diseases or syndromes

Author(s): van Haalen FM, Kaya M, Pelsma ICM, Dekkers OM, Biermasz NR, Cannegieter SC, Huisman MV, van Vlijmen BJM, Feelders RA, Klok FA, Pereira AM, Stochholm K, Fliers E, Castinetti F, Brue T, Bertherat J, Scaroni C, Colao A, Giordano R, Druce MR, Beckers A, Spranger J, Driessens N, Maiter D, Feldt-Rasmussen U, Feelders R, Webb SM, Dattani M, Husebye E, Zilaitiene B, Gaztambide S, Gatto F, Ferone D, Persani L, Chiodini I, Höybye C, Pereira AM, Biermasz NR, Klok FA, Dekkers OM, Meijer OC, Reincke M, Vila G, Perry C, Heck A, Stancampiano MR, van de Ven A, Johannsson G, Ragnarsson O, Tóth M, Volke V, Toumba M, Canu L, Vojtková J, Al-Mrayat M, Fassnacht M, Detomas M, Karavitaki N, van der Klauw MM, Groselj U, Elenkova A, Unuane D

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

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

Publication: Orphanet Journal of Rare Diseases v17.1 Year: 2022 ORPHAcode / other: ORPHA647758

DOI: DOI: 10.1186/s13023-022-02320-x Keywords: Cushing’s syndrome,Endo-ERN survey,Guidelines,Hemostasis,Hypercortisolism,Thromboprophylaxis,Venous thromboembolism

Author(s): Fleseriu M, Biller BMK, Bertherat J, Young J, Hatipoglu B, Arnaldi G, O’Connell P, Izquierdo M, Pedroncelli AM, Pivonello R

Affiliated Institution / ERN: AOU Federico II - Naples ;

Condition / Disease: Cushing Disease

Publication: Pituitary v25.6 p959-970 Year: 2022 ORPHAcode / other: ORPHA96253

DOI: 10.1007/s11102-022-01280-6 Keywords: Cortisol,Cushing’s disease,Cushing’s syndrome,Hypercortisolism,Osilodrostat,Steroidogenesis inhibitor

Author(s): van Haalen FM, Kaya M, Pelsma ICM, Dekkers OM, Biermasz NR, Cannegieter SC, Huisman MV, van Vlijmen BJM, Feelders RA, Klok FA, Pereira AM, Stochholm K, Fliers E, Castinetti F, Brue T, Bertherat J, Scaroni C, Colao A, Giordano R, Druce MR, Beckers A, Spranger J, Driessens N, Maiter D, Feldt-Rasmussen U, Feelders R, Webb SM, Dattani M, Husebye E, Zilaitiene B, Gaztambide S, Gatto F, Ferone D, Persani L, Chiodini I, Höybye C, Pereira AM, Biermasz NR, Klok FA, Dekkers OM, Meijer OC, Reincke M, Vila G, Perry C, Heck A, Stancampiano MR, van de Ven A, Johannsson G, Ragnarsson O, Tóth M, Volke V, Toumba M, Canu L, Vojtková J, Al-Mrayat M, Fassnacht M, Detomas M, Karavitaki N, van der Klauw MM, Groselj U, Elenkova A, Unuane D

Affiliated Institution / ERN: Bergen Hospital Trust ; Sahlgrenska University Hospital ;

Condition / Disease: Cushings syndrome, thromboprophylaxis

Publication: Orphanet Journal of Rare Diseases v17.1 Year: 2022 ORPHAcode / other: ORPHA:96253; ORPHA647758; ORPHA189427; ORPHA314749

DOI: 10.1186/s13023-022-02320-x Keywords: Cushing’s syndrome,Endo-ERN survey,Guidelines,Hemostasis,Hypercortisolism,Thromboprophylaxis,Venous thromboembolism

Author(s): Van Loo L, Vogels A, Rochtus A

Affiliated Institution / ERN: UZ Leuven ;

Condition / Disease: Prader Willi syndrome

Publication: JCEM Case Reports v1.1 Year: 2022 ORPHAcode / other: ORPHA739

DOI: 10.1210/jcemcr/luac034 Keywords: Prader-Willi syndrome,behavioral changes,severe underlying illness

Author(s): Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus P, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R

Affiliated Institution / ERN:

Condition / Disease:

Publication: Endocrine Connections Volume11: Issue 12 Year: 2022 ORPHAcode / other:

DOI: 10.1530/ec-22-0367 Keywords:

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: Non-functioning pituitary adenoma

Publication: Journal of Neuro-Oncology v160.2 p351-359 Year: 2022 ORPHAcode / other: ORPHA91349

DOI: 10.1007/s11060-022-04149-7 Keywords: Cabergoline,Dopamine agonists,Efficacy,Nonfunctioning pituitary adenoma,Safety,Therapeutic outcome

Author(s): van der Kaay DCM, Rochtus A, Binder G, Kurth I, Prawitt D, Netchine I, Johannsson G, Hokken-Koelega ACS, Elbracht M, Eggermann T

Affiliated Institution / ERN:

Condition / Disease:

Publication: Endocrine Connections doi.org/10.1530/EC-22-0277 Year: 2022 ORPHAcode / other:

DOI: Keywords:

Author(s): Giacobbe A, Andreoli L, Mauri E, Pajno R, Patria F, Pinzani R, Costantino AM, Barbieri S, Dilena R

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

Condition / Disease: Prader-Willi syndrome

Publication: Epileptic Disorders v24.5 p957-960 Year: 2022 ORPHAcode / other: ORPHA739

DOI: 10.1684/epd.2022.1455 Keywords:

Author(s): Zafón C, Castelo B

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

Condition / Disease: Non-metastatic Thyroid Carcinoma

Publication: Cancer Medicine v11.S1 p3-4 Year: 2022 ORPHAcode / other: ORPHA100088

DOI: 10.1002/cam4.5154 Keywords:

Author(s): Ciancia S, Dubois V, Cools M

Affiliated Institution / ERN:

Condition / Disease:

Publication: Endocrine Connections doi.org/10.1530/EC-22-0280 Year: 2022 ORPHAcode / other:

DOI: Keywords:

Author(s): Gentilini D, Muzza M, de Filippis T, Vigone MC, Weber G, Calzari L, Cassio A, Di Frenna M, Bartolucci M, Grassi ES, Carbone E, Olivieri A, Persani L

Affiliated Institution / ERN: San Raffaele hospital - Milan ;

Condition / Disease: Permanent congenital hypothyroidism

Publication: Journal of Endocrinological Investigation v46.2 p393-404 Year: 2022 ORPHAcode / other: ORPHA226292

DOI: 10.1007/s40618-022-01915-2 Keywords: Congenital diseases,Genome-wide DNA methylation,Preterm delivery,Thyroid,Thyroid dysgenesis,Twin gestation

Author(s): Barrea L, Vetrani C, Fintini D, de Alteriis G, Panfili FM, Bocchini S, Verde L, Colao A, Savastano S, Muscogiuri G

Affiliated Institution / ERN: AOU Federico II - Naples ;

Condition / Disease: Prader Willi Syndrome and Prader Willi-like Syndrome

Publication: Current Obesity Reports v11.4 p263-276 Year: 2022 ORPHAcode / other: ORPHA739

DOI: 10.1007/s13679-022-00478-w Keywords: Diet,Drugs,Ketogenic diet,Nutrition,Nutritionist,Obesity,Prader–Willi syndrome

Author(s): White EK, Wagner IV, Beuzekom C van, Iotova V, Ahmed SF, Hiort O, Pereira A

Affiliated Institution / ERN: Leiden University Medical Center ; Amsterdam UMC ; Universitätsklinikum Schleswig-Holstein ; UMHAT “Sveta Marina” (Varna) ;

Condition / Disease:

Publication: Endocrine Connections Volume 11: Issue 11 Year: 2022 ORPHAcode / other:

DOI: doi.org/10.1530/EC-22-0281 Keywords:

Author(s): Ionescu IC, van Trotsenburg PAS, Paridaens D, Tanck M, Mooij CF, Cagienard E, Kalmann R, Pakdel F, van der Meeren S, Saeed P

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

Condition / Disease: Paediatric-onset Graves disease

Publication: Acta Ophthalmologica v100.6 Year: 2022 ORPHAcode / other: ORPHA525731

DOI: 10.1111/aos.15084 Keywords: Graves’ disease,Graves’ orbitopathy,orbital decompression,paediatric,rehabilitative surgery,severity,thyroid eye disease

Author(s): Isidori AM, Aversa A, Calogero A, Ferlin A, Francavilla S, Lanfranco F, Pivonello R, Rochira V, Corona G, Maggi M

Affiliated Institution / ERN: AOU Federico II - Naples ;

Condition / Disease:

Publication: Journal of Endocrinological Investigation v45.12 p2385-2403 Year: 2022 ORPHAcode / other:

DOI: 10.1007/s40618-022-01859-7 Keywords: Bone mineral density,Erectile dysfunction,Hypogonadism,Late-onset hypogonadism,Metabolic syndrome,Obesity,Testosterone

Author(s): Feola T, Pirchio R, Puliani G, Pofi R, Crocco M, Sada V, Sesti F, Verdecchia F, Gianfrilli D, Appetecchia M, Di Iorgi N, Jaffrain-Rea ML, Pivonello R, Isidori AM, Grossman AB, Sbardella E, Savage AM, Foresta C, Krausz C, Durante C, De Martino MC, Paoli D, Ferrigno R, Caiulo S, Minnetti M, Hasenmajer V, Pozza C, Kanakis G, Cangiano B, Tenuta M, Petrozzi A, Carlomagno F, Di Nisio A, Pallotti F, Tarsitano MG, Spaziani M, Cargnelutti F, Sabovic I, Grani G, Virili C, Cozzolino A, Stramazzo I, Filardi T, Mazzotta P

Affiliated Institution / ERN: AOU Federico II - Naples ;

Condition / Disease: Craniopharyngioma

Publication: Journal of Endocrinological Investigation v46.1 p181-188 Year: 2022 ORPHAcode / other:

DOI: 10.1007/s40618-022-01900-9 Keywords: Adolescence,Parasellar lesions,Pituitary tumours,Sellar,Transition age,Young adults

Author(s): Marigliano M, Scaramuzza AE, Bonfanti R, Rabbone I, Schiaffini R, Toni S, Cherubini V, Abate Daga F, Bassi M, Berioli MG, Bruzzi P, Calandretti M, Carducci C, Cavalli C, Delvecchio M, Gesuita R, Giorda S, Iafusco D, Lenzi L, Lombardo F, Lo Presti D, Maffeis C, Maltoni G, Mameli C, Marino M, Piccini B, Minuto N, Mozzillo E, Piccinno E, Pignatiello C, Predieri B, Redaelli FC, Ricciardi MR, Rigamonti A, Ripoli C, Rosanio FM, Salzano G, Savastio S, Tiberi V, Tinti D, Trada M, Zanetta S, Zanfardino A, Zucchini S

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

Condition / Disease:

Publication: JAMA Network Open v5.8 pe2228669 Year: 2022 ORPHAcode / other:

DOI: 10.1001/jamanetworkopen.2022.28669 Keywords:

Author(s): Wolters WPG, Dreijerink KMA, Giles RH, van der Horst‐Schrivers ANA, van Nesselrooij B, Zandee WT, Timmers HJLM, Seute T, de Herder WW, Verrijn Stuart AA, Kilic E, Brinkman WM, Zondervan PJ, Vandertop WP, Daniels AB, Wolbers T, Links TP, van Leeuwaarde RS

Affiliated Institution / ERN: University Medical Center Groningen ;

Condition / Disease: VHL Syndrome

Publication: Cancer v128.15 p2871-2879 Year: 2022 ORPHAcode / other: ORPHA892

DOI: 10.1002/cncr.34265 Keywords: care pathway,hemangioblastoma,pancreatic neuroendocrine tumor,renal cell carcinoma,retinal angioma,von Hippel-Lindau (VHL)

Author(s): Montero‐Conde C, Leandro‐García LJ, Martínez‐Montes ÃM, Martínez P, Moya FJ, Letón R, Gil E, Martínez‐Puente N, Guadalix S, Currás‐Freixes M, García‐Tobar L, Zafon C, Jordà M, Riesco‐Eizaguirre G, González‐García P, Monteagudo M, Torres‐Pérez R, Mancikova V, Ruiz‐Llorente S, Pérez‐Martínez M, Pita G, Galofré JC, Gonzalez‐Neira A, Cascón A, Rodríguez‐Antona C, Megías D, Blasco MA, Caleiras E, Rodríguez‐Perales S, Robledo M

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

Condition / Disease: Non-metastatic Thyroid Carcinoma

Publication: Clinical and Translational Medicine v12.8 Year: 2022 ORPHAcode / other: ORPHA100088

DOI: 10.1002/ctm2.1001 Keywords: 5p-end FISH,TERC,TERT promoter methylation,TERT promoter mutation,subtelomeric gene expression,telomere shortening

Author(s): Prot-Bertoye C, Lievre L, Houillier P

Affiliated Institution / ERN: Reference centre for rare diseases of calcium and phosphate-HEGP ;

Condition / Disease:

Publication: Pflügers Archiv - European Journal of Physiology v474.8 p885-900 Year: 2022 ORPHAcode / other:

DOI: 10.1007/s00424-022-02725-4 Keywords: Calcium-sensing receptor,Claudin,Paracellular ion transport,Parathyroid hormone,TRPV5,Tight junction,Transcellular ion transport

Author(s): Scaramuzza AE, Cherubini V, Schiaffini R, Rabbone I, Gallo F, Fichera G, Arnaldi C, Bonfanti R, Lombardo F, De Marco R, Pascarella F, Tornese G, Bobbio A, Suprani T, Minuto N, Franceschi R, Piccinno E, Mozzillo E, Savastio S, Piccini B, Frongia AP, Mameli C, Musolino G, Toni S, Randazzo E, Frontino G, Delvecchio M, Sogno Valin P, Reinstadler P, Calcaterra V, De Sanctis L, Trada M, Coccioli MS, Guerraggio LP, Citriniti F, Lasagni A, Rutigliano I, Stamati FA, De Berardinis F, Zampolli M, Maltoni G, Fornari E, Ripoli C, Gaiero A, Sordelli S, d’Annunzio G, Predieri B, Cardinale G, Cardella F, Iafusco D, Corò A, Zucchini S, Maffeis C, Giani E, Tinti D, Cavalli C

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

Condition / Disease:

Publication: Acta Diabetologica v59.8 p1109-1111 Year: 2022 ORPHAcode / other:

DOI: 10.1007/s00592-022-01885-0 Keywords: Adolescents,COVID-19,Children,Type 1 diabetes,Vaccination,Vaccine

Author(s): Grottoli S, Bianchi A, Bogazzi F, Bona C, Carlsson MO, Colao A, Dassie F, Giampietro A, Gomez R, Granato S, Maffei P, Pivonello R, Prencipe N, Ragonese M, Urbani C, Cannavò S

Affiliated Institution / ERN: AOU Federico II - Naples ;

Condition / Disease: Acromegaly

Publication: Journal of Endocrinological Investigation v45.8 p1535-1545 Year: 2022 ORPHAcode / other: ORPHA963

DOI: 10.1007/s40618-022-01789-4 Keywords: Acromegaly,Effectiveness,Pegvisomant,Real-world analysis,Safety,Treatment schemes