Author(s): Elenkova A, Racheva P, Kirilov G, Zacharieva S

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

Condition / Disease: Prolactinoma

Publication: Endocrinología, Diabetes y Nutrición (English ed.) v70 p27-34 Year: 2023 ORPHAcode / other: ORPHA2965

DOI: 10.1016/j.endien.2023.05.008 Keywords: Autoimmune thyroiditis,Hipertiroidismo,Hipotiroidismo,Hyperthyroidism,Hypothyroidism,Prolactin,Prolactina,Prolactinoma,Tiroiditis autoinmune

Author(s): Kalender U, Wiegmann S, Ernst M, Ihme L, Neumann U, Stöckigt B

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;

Condition / Disease:

Publication: Heliyon v9.6 pe16778 Year: 2023 ORPHAcode / other:

DOI: 10.1016/j.heliyon.2023.e16778 Keywords:

Author(s): de Mestier L, Resche‐Rigon M, Dromain C, Lamarca A, La Salvia A, de Baker L, Fehrenbach U, Pusceddu S, Colao A, Borbath I, de Haas R, Rinzivillo M, Zerbi A, Funicelli L, de Herder WW, Selberherr A, Wagner AD, Manoharan P, De Cima A, Lybaert W, Jann H, Prinzi N, Faggiano A, Annet L, Walenkamp A, Panzuto F, Pedicini V, Pitoni MG, Siebenhuener A, Mayerhoefer ME, Ruszniewski P, Vullierme M

Affiliated Institution / ERN: AOU Federico II - Naples ;

Condition / Disease: neuroendocrine tumors

Publication: Journal of Neuroendocrinology v35.6 Year: 2023 ORPHAcode / other: ORPHA100092

DOI: 10.1111/jne.13311 Keywords: computed tomography,neuroendocrine tumors,response evaluation,systemic treatments

Author(s): Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA

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

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.3389/fendo.2023.1156616 Keywords: 21-hyrdroxylase deficiency,CAH,CYP21A2,RCCX,gene duplications

Author(s): Sayol-Torres L, Valenzuela MI, Tomasini R, Fernández-Alvarez P, Clemente M, Yeste D

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

Condition / Disease: Non-acquired pituitary hormone deficiency

Publication: Journal of Clinical Research in Pediatric Endocrinology v15.2 p205-209 Year: 2023 ORPHAcode / other: ORPHA95488

DOI: 10.4274/jcrpe.galenos.2021.2021.0128 Keywords: Prolyl endopeptidase-like,genetics,growth hormone deficiency

Author(s): Robeva R, Elenkova A, Kirilov G, Zacharieva S

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

Condition / Disease: PCOS

Publication: Endocrine v81.3 p602-612 Year: 2023 ORPHAcode / other:

DOI: 10.1007/s12020-023-03404-9 Keywords: Nerve growth factor (NGF),Normetanephrine,Polycystic ovarian syndrome (PCOS),Renalase,Sympathetic noradrenergic activity

Author(s): Faccioli N, Poitou C, Clément K, Dubern B

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

Condition / Disease: Genetic non-syndromic obesity, leptin/melanocortin pathway

Publication: Journal of Clinical Research in Pediatric Endocrinology v15.2 p108-119 Year: 2023 ORPHAcode / other: ORPHA77828

DOI: 10.4274/jcrpe.galenos.2023.2023-3-2 Keywords: Genetic obesity,syndromic obesity,personalized medicine,setmelanotide

Author(s): Karapanagioti A, Nasiri-Ansari N, Moustogiannis A, Trigas GC, Zografos G, Aggeli C, Kyriakopoulos G, Choreftaki T, Philippou A, Kaltsas G, Kassi E, Angelousi A

Affiliated Institution / ERN: General Hospital of Athens “LAIKO” ;

Condition / Disease: Adrenocortical carcinoma

Publication: Endocrine v81.2 p357-367 Year: 2023 ORPHAcode / other: ORPHA1501

DOI: 10.1007/s12020-023-03393-9 Keywords: Adrenal adenomas,Adrenocortical carcinoma,Apoptosis,BAX,BCL2,CHCHD2

Author(s): Maghnie M, Orso M, Polistena B, Cappa M, Pozzobon G, d’Angela D, Patti G, Spandonaro F, Granato S, Di Virgilio R, La Torre D, Salerno M

Affiliated Institution / ERN: San Raffaele hospital - Milan ;

Condition / Disease: growth hormone deficiency

Publication: Journal of Endocrinological Investigation v46.12 p2513-2523 Year: 2023 ORPHAcode / other: ORPHA631; ORPHA101957;

DOI: 10.1007/s40618-023-02106-3 Keywords: Children,Growth hormone deficiency,Italy,Quality of life,Survey

Author(s): Lister NB, Baur LA, Felix JF, Hill AJ, Marcus C, Reinehr T, Summerbell C, Wabitsch M

Affiliated Institution / ERN: Ulm University Medical Center ;

Condition / Disease: Child and adolescent obesity

Publication: Nature Reviews Disease Primers v9.1 Year: 2023 ORPHAcode / other: ORPHA77828

DOI: 10.1038/s41572-023-00435-4 Keywords:

Author(s): Giacomozzi C, Martin A, Fernández MC, Gutiérrez M, Iascone M, Domené HM, Dominici FP, Bergadá I, Cangiano B, Persani L, Pennisi PA

Affiliated Institution / ERN: AOU-Bologna ;

Condition / Disease: growth hormone deficiency (GHD)

Publication: The Journal of Clinical Endocrinology & Metabolism v108.6 p1355-1369 Year: 2023 ORPHAcode / other: ORPHA101957; ORPHA95488

DOI: 10.1210/clinem/dgac738 Keywords: IGF1 mutation,IGF1 primary insufficiency,impaired glucose tolerance,insulin resistance,short stature

Author(s): Detomas M, Ritzel K, Nasi-Kordhishti I, Schernthaner-Reiter MH, Losa M, Tröger V, Altieri B, Kroiss M, Kickuth R, Fassnacht M, Micko A, Honegger J, Reincke M, Deutschbein T

Affiliated Institution / ERN: University Hospital Würzburg ;

Condition / Disease: Cushing Syndrome

Publication: European Journal of Endocrinology v188.5 p448-456 Year: 2023 ORPHAcode / other: ORPHA647758; ORPHA189427; ORPHA314749;

DOI: 10.1093/ejendo/lvad050 Keywords: Catheter,Cushing’s disease,IPSS,ectopic,petrosal sinus,pituitary,prolactin

Author(s): Juul A, Gravholt CH, De Vos M, Koledova E, Cools M

Affiliated Institution / ERN: Aarhus University Hospital ;

Condition / Disease: DSD

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA325546

DOI: 10.3389/fendo.2023.1160884 Keywords: DSD,Klinefelter syndrome,NSVSC,Turner syndrome,sex chromosomes

Author(s): Heller S, Battelino T, Bailey TS, Pieber TR, Hövelmann U, Plum‐Mörschel L, Melgaard AE, Aronson R, DiMeglio LA, Johansen T, Danne T

Affiliated Institution / ERN: University Medical Centre Ljubljana ;

Condition / Disease: Diabetes mellitus

Publication: Diabetes, Obesity and Metabolism v25.5 p1351-1360 Year: 2023 ORPHAcode / other:

DOI: 10.1111/dom.14987 Keywords: glucagon,glycaemic control,hypoglycaemia,type 1 diabetes

Author(s): Dieme A, André S, Lapillonne H, Tounian P, Clément K, Dubern B

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

Condition / Disease: Syndromic Genetic Obesity

Publication: Archives de Pédiatrie v30.4 p212-218 Year: 2023 ORPHAcode / other: ORPHA240371

DOI: 10.1016/j.arcped.2023.02.009 Keywords: Adipose tissue,Childhood obesity,Immunology,Inflammation

Author(s): Illouz F, Briet C, Rodien P

Affiliated Institution / ERN: CHU d'Angers ;

Condition / Disease: Immune checkpoint inhibitor-related thyroid dysfunction

Publication: Annales d'Endocrinologie v84.3 p346-350 Year: 2023 ORPHAcode / other:

DOI: 10.1016/j.ando.2023.03.005 Keywords: Dysfonction thyroïdienne,Hypothyroidism,Hypothyroïdie,Immune checkpoint inhibitors,Inhibiteurs des points de contrôle immunitaire,Thyroid dysfunction,Thyroiditis,Thyrotoxicose,Thyrotoxicosis,Thyroïdite

Author(s): Dubern B, Faccioli N, Poitou C, Clément K

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

Condition / Disease: obesity associated with defect in leptin/melanocortin pathway

Publication: Pharmacological Research v191 p106763 Year: 2023 ORPHAcode / other: ORPHA77828

DOI: 10.1016/j.phrs.2023.106763 Keywords: Childhood obesity,Genetics,Hypothalamus,Melanocortins,Monogenic obesity

Author(s): Berglund A, Ornstrup MJ, Lind-Holst M, Dunø M, Bækvad-Hansen M, Juul A, Borch L, Jørgensen N, Rasmussen ÃK, Andersen M, Main KM, Hansen D, Gravholt CH

Affiliated Institution / ERN: Aarhus University Hospital ;

Condition / Disease: Congenital Adrenal Hyperplasia

Publication: The Lancet Regional Health - Europe v28 p100598 Year: 2023 ORPHAcode / other: ORPHA418

DOI: 10.1016/j.lanepe.2023.100598 Keywords: Congenital adrenal hyperplasia,Diagnosis age,Epidemiology,Incidence,Prevalence

Author(s): Taïeb D, Wanna GB, Ahmad M, Lussey-Lepoutre C, Perrier ND, Nölting S, Amar L, Timmers HJLM, Schwam ZG, Estrera AL, Lim M, Pollom EL, Vitzthum L, Bourdeau I, Casey RT, Castinetti F, Clifton-Bligh R, Corssmit EPM, de Krijger RR, Del Rivero J, Eisenhofer G, Ghayee HK, Gimenez-Roqueplo A, Grossman A, Imperiale A, Jansen JC, Jha A, Kerstens MN, Kunst HPM, Liu JK, Maher ER, Marchioni D, Mercado-Asis LB, Mete O, Naruse M, Nilubol N, Pandit-Taskar N, Sebag F, Tanabe A, Widimsky J, Meuter L, Lenders JWM, Pacak K

Affiliated Institution / ERN: University Medical Center Groningen ;

Condition / Disease: Phaeochromocytoma and paraganglioma

Publication: The Lancet Diabetes & Endocrinology v11.5 p345-361 Year: 2023 ORPHAcode / other: ORPHA276621

DOI: 10.1016/s2213-8587(23)00038-4 Keywords:

Author(s): Burki T

Affiliated Institution / ERN: APDP – Diabetes Portugal ;

Condition / Disease: diabetes and behaviour

Publication: The Lancet Diabetes & Endocrinology v11.5 p313 Year: 2023 ORPHAcode / other:

DOI: 10.1016/s2213-8587(23)00095-5 Keywords:

Author(s): Baig S, Wanninayake S, Foggensteiner L, Elhassan YS, Manolopoulos K, Ali S, Lassen PB, Clément K, Steeds RP, Tomlinson JW, Geberhiwot T

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

Condition / Disease: BBS

Publication: International Journal of Obesity v47.5 p382-390 Year: 2023 ORPHAcode / other: ORPHA110

DOI: 10.1038/s41366-023-01280-x Keywords:

Author(s): Grasemann C, Höppner J, Burgard P, Schündeln MM, Matar N, Müller G, Krude H, Berner R, Lee-Kirsch MA, Hauck F, Wainwright K, Baumgarten S, Atinga J, Bauer JJ, Manka E, Körholz J, Kiewert C, Heinen A, Kretschmer T, Kurth T, Mittnacht J, Schramm C, Klein C, Graessner H, Hiort O, Muntau AC, Grüters A, Hoffmann GF, Choukair D

Affiliated Institution / ERN: Charité Universitätsmedizin Berlin ;

Condition / Disease: transition of care, rare diseases

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

DOI: 10.1186/s13023-023-02698-2 Keywords: Adolescent health,Empowerment,Health literacy,Pathway,Rare disease,Transition

Author(s): Schweizer R, Martin DD, Binder G

Affiliated Institution / ERN: Universitätsklinikum Tübingen ;

Condition / Disease: growth hormone deficiency (GHD)

Publication: Frontiers in Endocrinology v14 Year: 2023 ORPHAcode / other: ORPHA631; ORPHA101957

DOI: 10.3389/fendo.2023.1122287 Keywords: children,growth hormone treatment (GH),jumping mechanography,muscle function,muscle power,peak jump force,small for gestation age (SGA)

Author(s): Campi I, Dell’Acqua M, Stellaria Grassi E, Cristina Vigone M, Persani L

Affiliated Institution / ERN: San Raffaele hospital - Milan ;

Condition / Disease: Resistance to thyroid hormone

Publication: European Thyroid Journal v12.4 Year: 2023 ORPHAcode / other: ORPHA596426

DOI: 10.1530/etj-23-0012 Keywords: TSH,assay artifacts,consumptive hypothyroidism,deiodinases,hypothyroidism,macro-TSH,malabsorption,resistance to TSH

Author(s): Amodru V, Ferriere A, Tabarin A, Castinetti F, Tsagarakis S, Toth M, Feelders RA, Webb SM, Reincke M, Netea-Maier R, Kastelan D, Elenkova A, Maiter D, Ragnarsson O, Santos A, Valassi E, Amaral C, Ambrogio A, Aranda G, Arosio M, Balomenaki M, Berr-Kirmair C, Bertherat J, Bolanowski M, Bollerslev J, Cardoso H, Carvalho D, Cavagnini F, Ceccato P, Chabre O, Chanson P, Christ E, Demtröder Zentrum fur Endokrinologie F, Denes J, Deutschbein T, Dimopoulou C, Dreval A, Droste M, Duarte JS, Dusek T, Ertürk E, Evang JA, Fajardo C, Fazel J, Feelders RA, Fica S, García-Centeno R, Ghigo E, Goth M, Godlewska M, Greenman Y, Halperin I, Hanzu FA, Hermus A, Johannsson G, Hubina E, Januszewska A, Kamenicky P, Kasperlik-Zaluska A, Kirchner J, Kastelan D, Komerdus I, Kraljevic I, Krsek M, Kruszynska A, Lamas C, Lambrescu I, Lang S, Luger A, Maiter D, Marpole N, Martin S, Martinie M, Martins Oliveira MJ, Moros O, Netea-Maier R, Newell-Price J, Orbetzova M, Paiva I, Pecori Giraldi F, Percovich JC, Pereira AM, Pfeifer M, Pickel J, Pirags V, Ragnarsson O, Reghina AD, Reincke M, Riesgo P, Roberts M, Roerink S, Roig O, Rowan C, Rudenko P, Salvador J, Santos A, Scaroni C, Sigurjonsdottir HA, Skoric Polovina T, Smith R, Stachowska B, Stalla G, Strasburger C, Tabarin A, Terzolo M, Tőke J, Tóth M, Touraine P, Trainer PJ, Tsagarakis S, Valassi E, Vila G, Vinay S, Wagenmakers M, Werner S, Young J, Zdunowski P, Zopf K, Zopp S, Zosin I

Affiliated Institution / ERN: University Hospitals Saint-Luc ; Semmelweis University ; Hospital de la Santa Creu i Sant Pau ; Evangelismos General Hospital ;

Condition / Disease: Cushing's syndrome

Publication: European Journal of Endocrinology v188.4 p395-406 Year: 2023 ORPHAcode / other: ORPHA96253; ORPHA647758; ORPHA189427; ORPHA314749;

DOI: 10.1093/ejendo/lvad008 Keywords: Cushing's syndrome,ERCUSYN,aging,elderly patients

Author(s): Reschke F, Biester T, von dem Berge T, Jamiolkowski D, Hasse L, Dassie F, Maffei P, Klee K, Kordonouri O, Ott H, Danne T

Affiliated Institution / ERN: Hannoversche Kinderheilanstalt ;

Condition / Disease: rare diabetes

Publication: Endocrine Connections v12.7 Year: 2023 ORPHAcode / other: ORPHA101952

DOI: 10.1530/ec-22-0410 Keywords: cutaneous effects of rare diabetes,rare dermatologic changes in endocrine disorders,rare endocrinopathies,rare types of diabetes

Author(s): Binder G, Weber K, Peter A, Schweizer R

Affiliated Institution / ERN: Universitätsklinikum Tübingen ;

Condition / Disease: AVP deficiency

Publication: Clinical Endocrinology v98.4 p548-553 Year: 2023 ORPHAcode / other: ORPHA101957; ORPHA30925;

DOI: 10.1111/cen.14880 Keywords: arginine,central diabetes insipidus,copeptin,polydipsia,polyuria,short stature

Author(s): Leiding JW, Vogel TP, Santarlas VG, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O’Sullivan M, Pachlopnik Schmid J, Průhová Å, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A, Aleshkevich S, Allende LM, Atkinson TP, Atschekzei F, Aydemir S, Aygunes U, Barlogis V, Baumann U, Belko J, Bezrodnik L, Biebl A, Broderick L, Bunin NJ, Caldirola MS, Castelle M, Celmeli F, Charbonnier L, Chatila TA, Chellapandian D, Cokugras H, Conlon N, Cox F, Crickx E, Dalgic B, ASH Dalm V, Danielian S, Dominguez-Pinilla N, Dujovny T, Ebbo M, Eken A, Esty B, Fabre A, Fischer A, Hannibal M, Huppert L, Ikeda MD, Jolles S, Jolly KW, Jones N, Kanariou M, Karakoc-Aydiner E, Karamantziani T, Kelaidi C, Keogan M, Pac Kisaarslan A, Kiykim A, Klocperk A, Kotsonis K, Kuzmenko N, Leroy S, Lianou D, Longhurst H, Lorenz MR, Maffucci P, Manson A, Marchal S, Malphettes M, Marega LF, Mauracher AA, Meesilpavikai K, Miller H, Mombourquette J, Morgan NG, Mukhina A, Nathalie A, Nelken B, Nolan D, Norlin A, Oleastro M, Ozcan A, Pasquet M, Pegler JR, Picard C, Polychronopoulou S, Quartier P, Quesada JF, Ramakers J, Randall KL, Rao VK, Remiker A, Resin G, Richmond P, Rieux-Laucat F, Rodina Y, Rohrlich P, Sachs J, Sakovich I, Santarlas C, Sari S, Sawicki G, Schauer U, Scheffler Mendoza SC, Schvetz O, Schmidt RE, Schwarz K, Sediva A, Sinclair K, Slatter M, Sleasman J, Stergiou K, Suratannon N, Tanita K, Thompson G, Travis S, Trojan T, Tsinti M, Unal E, Urdinez L, Vazquez-Gomez F, Villa M, Weinrich M, Weiss MJ, Wright B, Yilmaz E, Zachova R, Zhang Y, Seppänen MR, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR

Affiliated Institution / ERN: University Hospital Motol ; AOU-Bologna ;

Condition / Disease: monogenic autoimmunity

Publication: Journal of Allergy and Clinical Immunology v151.4 p1081-1095 Year: 2023 ORPHAcode / other: ORPHA438159

DOI: 10.1016/j.jaci.2022.09.002 Keywords: STAT3,autoimmunity,cytopenia,gain of function,immune dysregulation,immunodeficiency,lymphoproliferation,precision medicine

Author(s): Simstich S, Züllig T, D'Aurizio F, Biasotto A, Colao A, Isidori AM, Lenzi A, Fauler G, Köfeler HC, Curcio F, Herrmann M

Affiliated Institution / ERN: AOU Federico II - Naples ;

Condition / Disease: acromegaly and GH deficiency

Publication: Clinical Biochemistry v114 p95-102 Year: 2023 ORPHAcode / other: ORPHA963

DOI: 10.1016/j.clinbiochem.2023.02.008 Keywords: Hormone,Insulin-like Growth Factor 1 (IGF-1),Liquid Chromatography High-Resolution Mass Spectrometry (LC-HRMS),Online Solid Phase Extraction (OSPE),Peptide,Quantification,Serum

Author(s): Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, Lenzi A, Salerno M, Cappa M, Chan L, De Martino MC, Savage MO

Affiliated Institution / ERN:

Condition / Disease: genetic paediatric adrenal insufficiency

Publication: Reviews in Endocrine and Metabolic Disorders v24.2 p345-363 Year: 2023 ORPHAcode / other: ORPHA101958;ORPHA101959; ORPHA101960; ORPHA418; ORPHA869;

DOI: 10.1007/s11154-023-09784-7 Keywords: Addison,Adrenal insufficiency,Adrenoleukodystrophy,Aldosteron,Aldosterone Synthase,Allgrove syndrome,Cortisol,Familial glucocorticoid deficiency,Intrauterine growth retardation syndromes,Pseudohypoaldosteronism,Steroidogenesis,Triple A syndrome