Author(s): Kimpel O, Schindler P, Schmidt-Pennington L, Altieri B, Megerle F, Haak H, Pittaway J, Dischinger U, Quinkler M, Mai K, Kroiss M, Polat B, Fassnacht M

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

Condition / Disease: Adrenocortical carcinoma

Publication: British Journal of Cancer v128.4 p586-593 Year: 2023 ORPHAcode / other: ORPHA1501

DOI: 10.1038/s41416-022-02082-0 Keywords:

Author(s): Altieri B, La Salvia A, Modica R, Marciello F, Mercier O, Filosso PL, de Latour BR, Giuffrida D, Campione S, Guggino G, Fadel E, Papotti M, Colao A, Scoazec J, Baudin E, Faggiano A

Affiliated Institution / ERN: AOU Federico II - Naples ;

Condition / Disease: neuroendocrine tumor of the lung

Publication: Journal of Personalized Medicine v13.2 p330 Year: 2023 ORPHAcode / other: ORPHA877; ORPHA100101

DOI: 10.3390/jpm13020330 Keywords: LCNEC,adjuvant therapy,age,lymph nodes,neuroendocrine tumor,prognosis,prognostic marker,pulmonary cancer,surgery,survival

Author(s): Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D

Affiliated Institution / ERN:

Condition / Disease: Prader-Willi syndrome

Publication: Orphanet Journal of Rare Diseases v18.1 Year: 2023 ORPHAcode / other: ORPHA739

DOI: 10.1186/s13023-023-02633-5 Keywords: Genetic diseases,Prader–Willi syndrome,Quality,Rare diseases,Registry

Author(s): Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D

Affiliated Institution / ERN: University Hospital of Padova ; AOU Federico II - Naples ; AOU polyclinic "G.Martino" of Messina ; IRCCS Istituto Giannina Gaslini, Genova ; Meyer Children’s Hospital Florence ; San Raffaele hospital - Milan ;

Condition / Disease: Prader-Willi syndrome

Publication: Orphanet Journal of Rare Diseases v18.1 Year: 2023 ORPHAcode / other: ORPHA739

DOI: 10.1186/s13023-023-02633-5 Keywords: Genetic diseases,Prader–Willi syndrome,Quality,Rare diseases,Registry

Author(s): Coerts HI, de Keizer B, Marlowe RJ, Verburg FA

Affiliated Institution / ERN: University Medical Center Utrecht ;

Condition / Disease: Thyroid cancer

Publication: European Journal of Endocrinology v188.2 pR23-R35 Year: 2023 ORPHAcode / other: ORPHA146

DOI: 10.1093/ejendo/lvad006 Keywords: radioactive iodine,recombinant human TSH,thyroid hormone withdrawal

Author(s): Melo M, Ventura M, Cardoso L, Gaspar da Rocha A, Paiva I, Sobrinho-Simões M, Soares P

Affiliated Institution / ERN: São João University Hospital(CHUSJ) ;

Condition / Disease: Thyroid cancer

Publication: European Journal of Endocrinology v188.2 pR15-R22 Year: 2023 ORPHAcode / other: ORPHA146

DOI: 10.1093/ejendo/lvad004 Keywords: NIFTP,NIFTP molecular,low-risk thyroid neoplasm,non-invasive follicular thyroid neoplasm with papillary-like nuclear feature,thyroid neoplasm,thyroid tumour

Author(s): Bizzarri C, Capalbo D, Wasniewska MG, Baronio F, Grandone A, Cappa M

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

Condition / Disease: Adrenal insufficiency

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA101958

DOI: 10.3389/fendo.2023.1133376 Keywords: adrenal crisis,adrenal insufficiency,child,cortisol,hydrocortisone

Author(s): Chen J, Salveridou E, Liebmann L, Sundaram SM, Doycheva D, Markova B, Hübner CA, Boelen A, Visser WE, Heuer H, Mayerl S

Affiliated Institution / ERN: University Hospital Essen ;

Condition / Disease: Allan-Herndon-Dudley syndrome, thyroid hormone analog; thyroid hormone transport

Publication: International Journal of Molecular Sciences v24.4 p3452 Year: 2023 ORPHAcode / other: ORPHA59; ORPHA596426; ORPHA101955

DOI: 10.3390/ijms24043452 Keywords: Allan-Herndon-Dudley syndrome,Ditpa,SLC16A2,SLCO1C1,Triac,thyroid hormone analog,thyroid hormone transport

Author(s): Detomas M, Altieri B, Flitsch J, Saeger W, Korbonits M, Deutschbein T

Affiliated Institution / ERN: University Hospital Würzburg ;

Condition / Disease: Acromegaly

Publication: Journal of Endocrinological Investigation v46.8 p1705-1709 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.1007/s40618-023-02031-5 Keywords: AIP,Acromegaly,Colorectal cancer,Familial,GH,Gene,Growth hormone,Mutation,Pituitary adenoma,Twins

Author(s): van’t Westeinde A, Karlsson L, Messina V, Wallensteen L, Brösamle M, Dal Maso G, Lazzerini A, Kristensen J, Kwast D, Tschaidse L, Auer MK, Nowotny HF, Persani L, Reisch N, Lajic S

Affiliated Institution / ERN: IRCCS Auxologico Italian Institute - Milan ; Klinikum der Universität München ;

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: Endocrine Connections Volume 12: Issue 4 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.1530/ec-22-0400 Keywords: CAH,brain development,dexamethasone,first trimester,prenatal treatment,treatment safety

Author(s): van’t Westeinde A, Karlsson L, Messina V, Wallensteen L, Brösamle M, Dal Maso G, Lazzerini A, Kristensen J, Kwast D, Tschaidse L, Auer MK, Nowotny HF, Persani L, Reisch N, Lajic S

Affiliated Institution / ERN: Karolinska University Hospital ; Charité Universitätsmedizin Berlin ; Aarhus University Hospital ; Antonio Cardarelli Hospital - Naples ;

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: Endocrine Connections v12.4 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.1530/EC-22-0400 Keywords: CAH,brain development,dexamethasone,first trimester,prenatal treatment,treatment safety

Author(s): Ertl D, Mantovani G, de Nanclares GP, Elli FM, Pereda A, Pagnano A, Sanchis A, Cueto-Gonzalez AM, Berrade S, León MC, Rothenbuhler A, Audrain C, Berkenou J, Knight N, Dolman K, Gleiss A, Argente J, Linglart A

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

Condition / Disease: Acrodysostosis Type 2 (iPPSD5)

Publication: Journal of Endocrinological Investigation v46.8 p1673-1684 Year: 2023 ORPHAcode / other: ORPHA950

DOI: 10.1007/s40618-023-02026-2 Keywords: Acrodysostosis,Auxology,Inactivating PTH/PTHrP signaling disorders,Pediatric,Recombinant human growth hormone,SGA,Short stature

Author(s): Louveau C, Turtulici M, Consoli A, Poitou C, Coupaye M, Krebs M, Chaumette B, Iftimovici A

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

Condition / Disease: Prader Willi syndrome

Publication: Frontiers in Neuroscience v17 Year: 2023 ORPHAcode / other: ORPHA739

DOI: 10.3389/fnins.2023.1126970 Keywords: Prader–Willi,deletion,disomy,genetics,personalized medicine,topiramate,treatment

Author(s): Clement SC, Visser WE, Lebbink CA, Albano D, Claahsen-van der Grinten HL, Czarniecka A, Dias RP, Dierselhuis MP, Dzivite-Krisane I, Elisei R, Garcia-Burillo A, Izatt L, Kanaka-Gantenbein C, Krude H, Lamartina L, Lorenz K, Luster M, Navardauskaitė R, Negre Busó M, Newbold K, Peeters RP, Pellegriti G, Piccardo A, Priego AL, Redlich A, de Sanctis L, Sobrinho-Simões M, van Trotsenburg ASP, Verburg FA, Vriens M, Links TP, Ahmed SF, van Santen HM

Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ; University Medical Center Groningen ; University Medical Center Utrecht ; Amsterdam UMC ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; Aghia Sophia Children’s Hospital ; Charité Universitätsmedizin Berlin ; AO City of Health and Science - Turin ;

Condition / Disease: Pediatric Thyroid cancer

Publication: Endocrine Connections Volume 12: Issue 3 Year: 2023 ORPHAcode / other: ORPHA146

DOI: 10.1530/ec-22-0306 Keywords: DTC,childhood,registry,thyroid carcinoma

Author(s): Van Cauwenberghe J, De Block C, Vanderschueren D, Antonio L

Affiliated Institution / ERN: UZ Antwerpen ;

Condition / Disease: testosterone and diabetes

Publication: Andrology v11.2 p225-233 Year: 2023 ORPHAcode / other:

DOI: 10.1111/andr.13318 Keywords: GLP1 receptor analogues,antidiabetic agents,antihyperglycemic agents,functional hypogonadism,hypogonadism,obesity

Author(s): Joustra GE, ten Dam E, Vermeulen KM, Korsten‐Meijer AGW, Appelman APA, Feijen RA

Affiliated Institution / ERN: University Medical Center Groningen ;

Condition / Disease: Acromegaly

Publication: Laryngoscope Investigative Otolaryngology v8.1 p7-15 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.1002/lio2.1004 Keywords: anterior skull base,endoscopic endonasal sinus and Skull Base surgery questionnaire (EES‐Q),endoscopic skull base surgery,patient reported outcome measure,quality of life

Author(s): Grzywotz A, Li Y, Unger N, Kiewert C, Chmielewski WX, Sure U, Uerschels A, Wrede K, Kreitschmann-Andermahr I

Affiliated Institution / ERN: University Hospital Essen ;

Condition / Disease: Pituitary adenoma

Publication: Pituitary v26.1 p164-170 Year: 2023 ORPHAcode / other: ORPHA99408

DOI: 10.1007/s11102-022-01296-y Keywords: CSF pressure,ICP,Pituitary enlargement,Pituitary hyperplasia,Shunt insertion

Author(s): Beran D, Abidha C, Adler A, de Beaufort C, Lepeska M, Levitt N, Pfiester E, Zafra-Tanaka JH, Gale EA

Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ;

Condition / Disease: diabetes type 1; Teplizumab;

Publication: The Lancet Diabetes & Endocrinology v11.2 p78-80 Year: 2023 ORPHAcode / other:

DOI: 10.1016/s2213-8587(22)00384-9 Keywords:

Author(s): Links MH, Lefrandt JD, Lisman T, van der Boom T, Lukens MV, Meijer K, Links TP, Zandee WT

Affiliated Institution / ERN: University Medical Center Groningen ;

Condition / Disease: Thyroid cancer

Publication: Thyroid v33.2 p203-213 Year: 2023 ORPHAcode / other: ORPHA146

DOI: 10.1089/thy.2022.0299 Keywords: TH withdrawal,THST,cardiovascular risk,differentiated thyroid carcinoma,hemostasis,thrombosis

Author(s): Battelino T, Danne T, Edelman SV, Choudhary P, Renard E, Westerbacka J, Mukherjee B, Pilorget V, Coudert M, Bergenstal RM

Affiliated Institution / ERN: University Medical Centre Ljubljana ;

Condition / Disease: Diabetes mellitus

Publication: Diabetes, Obesity and Metabolism v25.2 p545-555 Year: 2023 ORPHAcode / other:

DOI: 10.1111/dom.14898 Keywords: basal insulin,continuous glucose monitoring,glycaemic control,insulin analogues,randomized trial,type 1 diabetes

Author(s): Bugalho MJ, Lopes-Pinto M, Lemos C, Nobre E

Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;

Condition / Disease: Acromegaly

Publication: Cureus doi:10.7759/cureus.34463 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.7759/cureus.34463 Keywords: acromegaly,growth hormone,hyperglycemia,oral glucose tolerance test,suppression test

Author(s): Kamusheva M, Vandeva S, Mitov K, Parvanova A, Pesheva M, Ganov N, Rusenova Y, Marinov L, Getova V, Elenkova A, Petrova G

Affiliated Institution / ERN: USHATE “ACAD IVAN Penchev” ;

Condition / Disease: Acromegaly

Publication: Pharmaceutics v15.2 p438 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.3390/pharmaceutics15020438 Keywords: Bulgaria,acromegaly,adherence

Author(s): Panfili FM, Convertino A, Grugni G, Mazzitelli L, Bocchini S, Crinò A, Campana G, Cappa M, Delvecchio M, Faienza MF, Licenziati MR, Mariani M, Osimani S, Pajno R, Patti G, Rutigliano I, Sacco M, Scarano E, Fintini D

Affiliated Institution / ERN: AOU-Bologna ;

Condition / Disease: Prader-Willi syndrome

Publication: Journal of Endocrinological Investigation v46.7 p1397-1406 Year: 2023 ORPHAcode / other: ORPHA739

DOI: 10.1007/s40618-022-01990-5 Keywords: 25OHD,GH therapy,Insulin resistance,Obesity,Prader-Willi syndrome,Vitamin D

Author(s): Shishkov SR, Tuccillo L, Iotova VM, Pivonello R, Pelsma IC, Pereira AM, Biermasz NR, and the Endo-ERN Reference Centers of the Main Thematic Group: Hypothalmic and Pituitary Conditions, Endo-ERN Pituitary Transition of Care Study Group

Affiliated Institution / ERN: UMHAT “Sveta Marina” (Varna) ; Leiden University Medical Center ;

Condition / Disease: pituitary conditions; transition survey;

Publication: Endocrine Connections Volume 12: Issue 2 Year: 2023 ORPHAcode / other: ORPHA99408; ORPHA95502

DOI: 10.1530/ec-22-0308 Keywords: Endo-ERN,pituitary disease,quality of care,survey,transition of care

Author(s): Fanis P, Morrou M, Tomazou M, Michailidou K, Spyrou GM, Toumba M, Skordis N, Neocleous V, Phylactou LA

Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;

Condition / Disease: Central Precocious Puberty

Publication: Frontiers in Endocrinology v13 Year: 2023 ORPHAcode / other: ORPHA650182

DOI: 10.3389/fendo.2022.1075341 Keywords: CpG island,DNA methylation,MKRN3,promoter,puberty timing

Author(s): Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Tveit Haavind M, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy M, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM, van Hest LP, Adank MA, Duijkers F, Nielsen M, Verbeek KCJ, van Ierland Y, Giltay JC, Vos JR, Vos JR

Affiliated Institution / ERN: University Medical Center Groningen ;

Condition / Disease: Familial Genetic Tumour Syndromes

Publication: JNCI: Journal of the National Cancer Institute v115.1 p93-103 Year: 2023 ORPHAcode / other: ORPHA306498

DOI: 10.1093/jnci/djac188 Keywords:

Author(s): Chmielewski WX, Walbrodt S, Rauschenbach L, Chihi M, Gembruch O, Darkwah Oppong M, Schroer S, Wrede KH, Dammann P, Jabbarli R, Kreitschmann-Andermahr I, Sato T, Unger N, Mattheis S, Sure U, Ahmadipour Y

Affiliated Institution / ERN: University Hospital Essen ;

Condition / Disease: pituitary adenoma

Publication: Medicina v59.1 p127 Year: 2023 ORPHAcode / other: ORPHA99408

DOI: 10.3390/medicina59010127 Keywords: adenomectomy,health-related quality of life,pituitary adenoma,pre-surgery patient health,sino-nasal health

Author(s): Alexandre MI, Faria CC, Gomes A, Bugalho MJ

Affiliated Institution / ERN: Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;

Condition / Disease: Pediatric growth hormone and prolactin secreting tumour

Publication: Journal of Pediatric Endocrinology and Metabolism v0.0 Year: 2023 ORPHAcode / other: ORPHA2965

DOI: 10.1515/jpem-2022-0488 Keywords: genetic testing,gigantism,growth hormone

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

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

Condition / Disease: Prader Willi syndrome

Publication: Endocrine Connections v12.1 Year: 2023 ORPHAcode / other: ORPHA739

DOI: 10.1530/ec-22-0373 Keywords: Prader-Willi syndrome,transition

Author(s): Pulungan AB, de Beaufort C, Ratnasari AF, Puteri HA, Lewis-Watts L, Bhutta ZA

Affiliated Institution / ERN: Centre Hospitalier de Luxembourg ;

Condition / Disease: pediatric diabetes care

Publication: Clinical Pediatric Endocrinology v32.3 p137-146 Year: 2023 ORPHAcode / other: ORPHA101952

DOI: 10.1297/cpe.2023-0017 Keywords: access,availability,children,diabetes,type 1 diabetes mellitus (T1DM)