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Endo-ERN Publications Database

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895 publication(s) found matching the search criteria

Venous thromboembolism in Cushing syndrome: results from an EuRRECa and Endo-ERN survey


Author(s): Cherenko M, Appelman-Dijkstra NM, Priego Zurita AL, Biermasz NR, Dekkers OM, Klok FA, Reisch N, Aulinas A, Biagetti B, Cannavo S, Canu L, Detomas M, Devuyst F, Falhammar H, Feelders RA, Ferrau F, Gatto F, Grasselli C, van Houten P, Hoybye C, Isidori AM, Kyrilli A, Loli P, Maiter D, Nowak E, Pivonello R, Ragnarsson O, Steenaard RV, Unger N, van de Ven A, Webb SM, Yeste D, Ahmed SF, Pereira AM
Affiliated Institution / ERN: Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Amsterdam UMC ;
Condition / Disease: Cushing disease
Publication: Endocrine Connections v13.6 Year: 2024 ORPHAcode / other: ORPHA96253
DOI: 10.1530/EC-24-0046 Keywords: Cushing disease,Cushing syndrome,endogenous hypercortisolism,thromboprophylaxis,venous thromboembolism

Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres


Author(s): Dwyer AA, McDonald IR, Cangiano B, Giovanelli L, Maione L, Silveira LFG, Raivio T, Latronico AC, Young J, Quinton R, Bonomi M, Persani L, Seminara SB, Lee CS
Affiliated Institution / ERN: IRCCS Auxologico Italian Institute - Milan ; Hôpital Bicêtre ; Helsinki University Hospital (HUS) ;
Condition / Disease: Kallmann Syndrome
Publication: The Lancet Diabetes & Endocrinology v12.4 p257-266 Year: 2024 ORPHAcode / other: ORPHA478

Efficacy and tolerability of somatostatin analogues according to gender in patients with neuroendocrine tumors


Author(s): Ruggeri RM, Aini I, Gay S, Grossrubatscher EM, Mancini C, Tarsitano MG, Zamponi V, Isidori AM, Colao A, Faggiano A
Affiliated Institution / ERN: AOU Federico II - Naples ; AOU Policlinico Umberto I - Rome ; AOU polyclinic "G.Martino" of Messina ;
Condition / Disease: Multiple endocrine neoplasia type 1
Publication: Reviews in Endocrine and Metabolic Disorders v25.2 p383-398 Year: 2024 ORPHAcode / other: ORPHA652
DOI: 10.1007/s11154-023-09858-6 Keywords: Gender,Neuroendocrine neoplasms,PRRT,Somatostatin analogues (SSA),Somatostatin receptors (SSTR),Therapy

A European Network for the Investigation of Gender Incongruence in adolescents


Author(s): Boogers LS, Wiepjes CM, Staphorsius AS, Klink DT, Ciancia S, Romani A, Stolk THR, van den Boogaard E, Steensma TD, de Vries ALC, van Trotsenburg ASP, den Heijer M, Fisher AD, Cools M, Hannema SE
Affiliated Institution / ERN: Ghent University Hospital ; University Hospital Florence ; Amsterdam UMC ;
Condition / Disease: Transgender, female to male
Publication: The Journal of Sexual Medicine v21.4 p350-356 Year: 2024 ORPHAcode / other: ICD-10 F64
DOI: 10.1093/jsxmed/qdae014 Keywords: GAH,GnRHa,adolescent,estradiol,puberty,testosterone,transgender

Exploring sexual function in adrenal insufficiency: findings from the Dual RElease hydrocortisone versus conventionAl glucocorticoid replaceMent therapy in hypocortisolism (DREAM) trial


Author(s): Hasenmajer V, De Alcubierre D, Ferrari D, Minnetti M, Bonaventura I, Pofi R, Simeoli C, Tomaselli A, Sciarra F, Bottillo G, Angelini F, Cozzolino A, Venneri MA, Jannini EA, Gianfrilli D, Pivonello R, Isidori AM
Affiliated Institution / ERN: AOU Federico II - Naples ; AOU Policlinico Umberto I - Rome ;
Condition / Disease: Chronic adrenocorticoid insufficiency
Publication: Andrology doi:10.1111/andr.13635 Year: 2024 ORPHAcode / other: ORPHA101959
DOI: 10.1111/andr.13635 Keywords: adrenal insufficiency,dual‐release hydrocortisone,erectile dysfunction,sexual function

Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency


Author(s): Chiarito M, Lattanzio C, D’Ascanio V, Capalbo D, Cavarzere P, Grandone A, Aiello F, Pepe G, Wasniewska M, Zoller T, Salerno M, Faienza MF
Affiliated Institution / ERN: AOU Federico II - Naples ; AOUI Verona ; AOU polyclinic "G.Martino" of Messina ; AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: Endocrine v84.2 p727-734 Year: 2024 ORPHAcode / other: ORPHA418
DOI: 10.1007/s12020-024-03792-6 Keywords: 17-OHP,21-hydroxylase deficiency (21-OHD),ACTH,Congenital adrenal hyperplasia (CAH),Nephrolithiasis

Near Adult Height and Body Mass Index Changes in Growth Hormone Treated Short Children with Noonan Syndrome: The Belgian Experience


Author(s): De Schepper J, Thomas M, Huysentruyt K, Becker M, Boros E, Casteels K, Chivu O, De Waele K, Dotremont H, Lysy PA, Massa G, Parent A, Rochtus A, Gies I
Affiliated Institution / ERN: Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; UZ Brussels ; University Hospitals Saint-Luc ; University Hospital Liège ; Ghent University Hospital ; UZ Antwerpen ; UZ Leuven ;
Condition / Disease: Noonan Syndrome
Publication: Hormone Research in Paediatrics p1-13 Year: 2024 ORPHAcode / other: ORPHA648
DOI: 10.1159/000538034 Keywords:

Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults


Author(s): Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M’Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Lewiecki EM
Affiliated Institution / ERN: Hôpital Bicêtre ;
Condition / Disease: Hypophosphatasia
Publication: Osteoporosis International v35.3 p431-438 Year: 2024 ORPHAcode / other: ORPHA436
DOI: 10.1007/s00198-023-06844-1 Keywords: Diagnosis,Hypophosphatasia,Major criteria,Minor criteria

IGF‐1 as screening tool for acromegaly and adult‐onset growth hormone deficiency in the Netherlands


Author(s): Postma MR, van Beek AP, van der Klauw MM, Lentjes EGWM, Muller Kobold AC
Affiliated Institution / ERN: University Medical Center Groningen ;
Condition / Disease: Pituitary
Publication: Clinical Endocrinology v100.3 p260-268 Year: 2024 ORPHAcode / other: ORPHA963; ORPHA95502;
DOI: 10.1111/cen.15000 Keywords: IGF-1,acromegaly,adult-onset growth hormone deficiency

Sunitinib for metastatic progressive phaeochromocytomas and paragangliomas: results from FIRSTMAPPP, an academic, multicentre, international, randomised, placebo-controlled, double-blind, phase 2 trial


Author(s): Baudin E, Goichot B, Berruti A, Hadoux J, Moalla S, Laboureau S, Nölting S, de la Fouchardière C, Kienitz T, Deutschbein T, Zovato S, Amar L, Haissaguerre M, Timmers H, Niccoli P, Faggiano A, Angokai M, Lamartina L, Luca F, Cosentini D, Hahner S, Beuschlein F, Attard M, Texier M, Fassnacht M, DOCAO C, Drui D, Borson Chazot F, Chabre O, Vezzosi D, Castinetti F, Bertherat J, Libé R, Gimenez-Roqueplo AP, Favier J, Quinkler M, Strasburger C, Zopf K, Reincke M, Kroiss M, Remde H, Haaf M, Fuß CT, Dischinger U, Eisenhofer G, Pamporaki C, Van Berkel A
Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease: Sporadic phaeochromocytoma/secreting paraganglioma
Publication: The Lancet v403.10431 p1061-1070 Year: 2024 ORPHAcode / other: ORPHA276621

Changes in depression symptom profile with gender-affirming hormone use in transgender persons


Author(s): Morssinkhof MW, Wiepjes CM, van den Heuvel OA, Kreukels BP, van der Tuuk K, T'Sjoen G, den Heijer M, Broekman BF
Affiliated Institution / ERN: Ghent University Hospital ; Amsterdam UMC ; University Medical Center Groningen ;
Condition / Disease: Transgender, female to male
Publication: Journal of Affective Disorders v348 p323-332 Year: 2024 ORPHAcode / other: ICD-10 F64
DOI: 10.1016/j.jad.2023.12.056 Keywords: Depression,Estrogen,Gender affirming hormone therapy,Testosterone,Transgender

IGF‐1 as screening tool for acromegaly and adult‐onset growth hormone deficiency in the Netherlands


Author(s): Postma MR, van Beek AP, van der Klauw MM, Lentjes EGWM, Muller Kobold AC
Affiliated Institution / ERN: University Medical Center Groningen ; University Medical Center Utrecht ;
Condition / Disease: Pituitary gigantism
Publication: Clinical Endocrinology v100.3 p260-268 Year: 2024 ORPHAcode / other: ORPHA99725

The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance


Author(s): Brandi ML, Khan AA, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M’Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Roux C
Affiliated Institution / ERN: Hôpital Bicêtre ;
Condition / Disease: Hypophosphatasia
Publication: Osteoporosis International v35.3 p439-449 Year: 2024 ORPHAcode / other: ORPHA436
DOI: 10.1007/s00198-023-06859-8 Keywords: Diagnostic parameters,HPP diagnosis in adults,Hypophosphatasia,Systematic review

Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)


Author(s): Hendricks LAJ, Verbeek KCJ, Schuurs-Hoeijmakers JHM, Mensenkamp AR, Brems H, de Putter R, Anastasiadou VC, Villy M, Jahn A, Steinke-Lange V, Baldassarri M, Irmejs A, de Jong MM, Links TP, Leter EM, Bosch DGM, Høberg-Vetti H, Tveit Haavind M, Jørgensen K, Mæhle L, Blatnik A, Brunet J, Darder E, Tham E, Hoogerbrugge N, Vos JR
Affiliated Institution / ERN: University Medical Center Groningen ; UZ Leuven ;
Condition / Disease: Partial gonadal dysgenesis
Publication: Cancers v16.5 p953 Year: 2024 ORPHAcode / other: NO XX CODE
DOI: 10.3390/cancers16050953 Keywords: alcohol drinking,body mass index,breast neoplasm,exercise,hamartoma syndrome,multiple

Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project


Author(s): Aversa T, De Sanctis L, Faienza MF, Gambineri A, Balducci A, D’Aprile R, Di Somma C, Giavoli C, Grossi A, Meriggiola MC, Profka E, Salerno M, Stagi S, Scarano E, Zatelli MC, Wasniewska M
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU polyclinic "G.Martino" of Messina ; AO City of Health and Science - Turin ; University Hospital of Padova ; AOU-Bologna ; AOU Federico II - Naples ; University Hospital Florence ; Meyer Children’s Hospital Florence ; AOU - Ferrara ;
Condition / Disease: Other
Publication: Journal of Endocrinological Investigation v47.7 p1585-1598 Year: 2024 ORPHAcode / other: ORPHA325546

Multi-Stakeholder Opinion Statement on the Care of Individuals Born with Differences of Sex Development: Common Ground and Opportunities for Improvement


Author(s): Cools M, Cheng EY, Hall J, Alderson J, Amies Oelschlager A, Balen AH, Chan Y, Geffner ME, Gravholt CH, Güran T, Hoebeke P, Lee P, Magritte E, Matos D, McElreavey K, Meyer-Bahlburg HF, Rink RC, Springer A, Szymanski KM, Vilain E, Williams J, Wolffenbuttel KP, Sandberg DE, Subramaniam R
Affiliated Institution / ERN: Aarhus University Hospital ;
Condition / Disease: DSD
Publication: Hormone Research in Paediatrics p1-17 Year: 2024 ORPHAcode / other: ORPHA98085; ORPHA2982; ORPHA325546
DOI: 10.1159/000536296 Keywords:

Multi-Stakeholder Opinion Statement on the Care of Individuals Born with Differences of Sex Development: Common Ground and Opportunities for Improvement


Author(s): Cools M, Cheng EY, Hall J, Alderson J, Amies Oelschlager A, Balen AH, Chan Y, Geffner ME, Gravholt CH, Güran T, Hoebeke P, Lee P, Magritte E, Matos D, McElreavey K, Meyer-Bahlburg HF, Rink RC, Springer A, Szymanski KM, Vilain E, Williams J, Wolffenbuttel KP, Sandberg DE, Subramaniam R
Affiliated Institution / ERN: Ghent University Hospital ; Erasmus MC: University Medical Center Rotterdam ; Aarhus University Hospital ;
Condition / Disease: Other
Publication: Hormone Research in Paediatrics p1-17 Year: 2024 ORPHAcode / other: ORPHA98085
DOI: 10.1159/000536296 Keywords:

Idiopathic isolated adrenocorticotropic hormone deficiency: a systematic review of a heterogeneous and underreported disease


Author(s): Van Mieghem E, De Block C, De Herdt C
Affiliated Institution / ERN: UZ Antwerpen ;
Condition / Disease: Acquired pituitary hormone deficiency
Publication: Pituitary v27.1 p23-32 Year: 2024 ORPHAcode / other: ORPHA95502
DOI: 10.1007/s11102-023-01366-9 Keywords: Acquired,Adrenal insufficiency,Anti-pituitary antibody,Hypopituitarism,Idiopathic isolated ACTH deficiency

Presentation of Graves’ orbitopathy within European Group On Graves’ Orbitopathy (EUGOGO) centres from 2012 to 2019 (PREGO III)


Author(s): Schuh A, Ayvaz G, Baldeschi L, Baretić M, Bechtold D, Boschi A, Brix TH, Burlacu M, Ciric J, Covelli D, Currò N, Donati S, Eckstein AK, Fichter N, Führer D, Horn M, Jabłońska-Pawlak A, Juri Mandić J, Kahaly GJ, Konuk O, Langbein A, Lanzolla G, Marcocci C, Marinò M, Miśkiewicz P, Beleslin BN, Pérez-Lázaro A, Pérez-López M, Ponto KA, Quinn A, Rudofsky G, Salvi M, Schittkowski MP, Tanda ML, Toruner F, Vaidya B, Hintschich CR
Affiliated Institution / ERN: University Hospital Essen ;
Condition / Disease: Graves' orbitopathy
Publication: British Journal of Ophthalmology v108.2 p294-300 Year: 2024 ORPHAcode / other: ORPHA466682
DOI: 10.1136/bjo-2022-322442 Keywords: epidemiology,eye lids,inflammation,orbit,public health

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants


Author(s): Welters A, Nortmann O, Wörmeyer L, Freiberg C, Eberhard D, Bachmann N, Bergmann C, Mayatepek E, Meissner T, Kummer S
Affiliated Institution / ERN: Universitätsklinikum Düsseldorf ;
Condition / Disease: Diazoxide-sensitive diffuse hyperinsulinism
Publication: International Journal of Molecular Sciences v25.2 p1270 Year: 2024 ORPHAcode / other: ORPHA165985
DOI: 10.3390/ijms25021270 Keywords: BiP/GRP78 co-chaperone,calcium leak,endoplasmic reticulum stress,hyperinsulinemic hypoglycemia,intracellular calcium homeostasis,monogenic diabetes

Semen quality and metabolic profile in people with type 1 diabetes with and without erectile dysfunction: a cross-sectional study


Author(s): Longo M, Caruso P, Varro C, Tomasuolo M, Cirillo P, Scappaticcio L, Romano L, Arcaniolo D, Maiorino MI, Bellastella G, De Sio M, Esposito K
Affiliated Institution / ERN: AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease: diabetes type 1
Publication: Journal of Endocrinological Investigation v47.7 p1787-1795 Year: 2024 ORPHAcode / other:
DOI: 10.1007/s40618-023-02285-z Keywords: BIA,CGM,ED,Glucose control,Semen quality,Type 1 diabetes

Disease control of acromegaly does not prevent excess mortality in the long term: results of a nationwide survey in Italy


Author(s): Arosio M, Sciannameo V, Contarino A, Berchialla P, Puglisi S, Pesatori AC, Ferrante E, Filopanti M, Pivonello R, Dassie F, Rochira V, Cannavò S, De Menis E, Pigliaru F, Grottoli S, Cambria V, Faustini-Fustini M, Montini M, Peri A, Ceccato F, Puxeddu E, Borretta G, Bondanelli M, Ferone D, Colao A, Terzolo M, Reimondo G
Affiliated Institution / ERN: AOU Federico II - Naples ; AOU - Modena ; University Hospital of Padova ; IRCCS Ospedale Policlinico San Martino – Genova ; AO City of Health and Science - Turin ; AOU polyclinic "G.Martino" of Messina ;
Condition / Disease: Acromegaly
Publication: Journal of Endocrinological Investigation v47.6 p1457-1465 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1007/s40618-023-02257-3 Keywords: Acromegaly,Epidemiology,IGF1,Mortality,Therapy

The economic burden of pediatric growth hormone deficiency in Italy: a cost of illness study


Author(s): Cappa M, Pozzobon G, Orso M, Maghnie M, Patti G, Spandonaro F, Granato S, Novelli G, La Torre D, Salerno M, Polistena B
Affiliated Institution / ERN: San Raffaele hospital - Milan ;
Condition / Disease: growth hormone deficiency
Publication: Journal of Endocrinological Investigation v47.7 p1743-1750 Year: 2024 ORPHAcode / other: ORPHA631; ORPHA101957;
DOI: 10.1007/s40618-023-02277-z Keywords: Children,Cost of illness,Economic burden,Growth hormone deficiency,Italy

Factors associated with disease control failure in acromegaly patients treated with pegvisomant: an ACROSTUDY analysis


Author(s): Giampietro A, Chiloiro S, Urbani C, Pivonello R, Carlsson MO, Dassie F, Prencipe N, Ragonese M, Gomez R, Granato S, Cannavò S, Grottoli S, Maffei P, Colao A, Bogazzi F, Bianchi A
Affiliated Institution / ERN: AOU Federico II - Naples ; University Hospital of Padova ; AOU Pisan ; AO City of Health and Science - Turin ;
Condition / Disease: Acromegaly
Publication: Endocrine Connections v13.3 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1530/EC-23-0247 Keywords: acromegaly,longitudinal studies,pegvisomant,real-world analysis

A pharmacoeconomic analysis from Italian guidelines for the management of prolactinomas


Author(s): Basile M, Valentini I, Attanasio R, Cozzi R, Persichetti A, Samperi I, Scoppola A, Auriemma RS, Menis ED, Esposito F, Ferrante E, Iatì G, Mazzatenta D, Maurizio Poggi, Rudà R, Tortora F, Cruciani F, Mitrova Z, Saulle R, Vecchi S, Cappabianca P, Paoletta A, Bozzao A, Caputo M, Doglietto F, Ferraù F, Lania AG, Laureti S, Lello S, Locatelli D, Maffei P, Minniti G, Peri A, Ruini C, Settanni F, Silvani A, Veronese N, Grimaldi F, Papini E, Cicchetti A
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU Federico II - Naples ; AO City of Health and Science - Turin ; University Hospital of Padova ; University Hospital Florence ; AOU-Bologna ;
Condition / Disease: Prolactinoma
Publication: Global and Regional Health Technology Assessment v11.1 p1-16 Year: 2024 ORPHAcode / other: ORPHA2965
DOI: 10.33393/grhta.2024.2601 Keywords: Bromocriptine,Cabergoline,Cost-utility,ICER,Prolactinoma

Epidemiology of gastroenteropancreatic neuroendocrine neoplasms: a review and protocol presentation for bridging tumor registry data with the Italian association for neuroendocrine tumors (Itanet) national database


Author(s): Panzuto F, Partelli S, Campana D, de Braud F, Spada F, Cives M, Tafuto S, Bertuzzi A, Gelsomino F, Bergamo F, Marcucci S, Mastrangelo L, Massironi S, Appetecchia M, Filice A, Badalamenti G, Bartolomei M, Amoroso V, Landoni L, Rodriquenz MG, Valente M, Colao A, Isidori A, Fanciulli G, Bollina R, Ciola M, Butturini G, Marconcini R, Arvat E, Cinieri S, Berardi R, Baldari S, Riccardi F, Spoto C, Giuffrida D, Gattuso D, Ferone D, Rinzivillo M, Bertani E, Versari A, Zerbi A, Lamberti G, Lauricella E, Pusceddu S, Fazio N, Dell’Unto E, Marini M, Falconi M
Affiliated Institution / ERN: AOU Federico II - Naples ; AOU Policlinico Umberto I - Rome ; IRCCS Ospedale Policlinico San Martino – Genova ; AO City of Health and Science - Turin ;
Condition / Disease: Multiple endocrine neoplasia type 1
Publication: Endocrine v84.1 p42-47 Year: 2024 ORPHAcode / other: ORPHA652
DOI: 10.1007/s12020-023-03649-4 Keywords: Neuroendocrine tumors,database.,epidemiology,management,registry

Could setmelanotide be the game-changer for acquired hypothalamic obesity?


Author(s): van Santen HM, Denzer C, Müller HL
Affiliated Institution / ERN: University Medical Center Utrecht ; Ulm University Medical Center ;
Condition / Disease: acquired hypothalamic obesity
Publication: Frontiers in Endocrinology v14 Year: 2024 ORPHAcode / other: ORPHA:689401
DOI: 10.3389/fendo.2023.1307889 Keywords: Craniopharyngioma,Setmelanotide,brain tumor,hypothalamic obesity,obesity

Patients’ perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy


Author(s): Mosbah H, Vatier C, Andriss B, Belalem I, Delemer B, Janmaat S, Jéru I, Le Collen L, Maiter D, Nobécourt E, Vantyghem M, Béliard S, Briet C, Donadille B, Dubois N, Gilly O, Jelliman S, Maître J, Reznik Y, Rimareix F, Vergès B, Vigouroux C, Dumas A
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease: Genetic lipodystrophy
Publication: European Journal of Endocrinology v190.1 p23-33 Year: 2024 ORPHAcode / other: ORPHA98305
DOI: 10.1093/ejendo/lvad169 Keywords: diagnostic pathway,lipodystrophy syndrome,rare disease,self-report

Patients’ perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy


Author(s): Mosbah H, Vatier C, Andriss B, Belalem I, Delemer B, Janmaat S, Jéru I, Le Collen L, Maiter D, Nobécourt E, Vantyghem M, Béliard S, Briet C, Donadille B, Dubois N, Gilly O, Jelliman S, Maître J, Reznik Y, Rimareix F, Vergès B, Vigouroux C, Dumas A
Affiliated Institution / ERN: University Hospitals Saint-Luc ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease: Familial partial lipodystrophy Type 1
Publication: European Journal of Endocrinology v190.1 p23-33 Year: 2024 ORPHAcode / other: ORPHA98306
DOI: 10.1093/ejendo/lvad169 Keywords: diagnostic pathway,lipodystrophy syndrome,rare disease,self-report

High prevalence of venous thrombotic events in Cushing’s syndrome: data from ERCUSYN and details in relation to surgery


Author(s): Isand K, Feelders R, Brue T, Toth M, Deutschbein T, Reincke M, Kršek M, Santos A, Demtröder F, Chabre O, Strasburger CJ, Aulinas Maso A, Volke V, Pereira AM, Lohmann R, Gich Saladich I, Amaral C, Ambrogio A, Aranda G, Arosio M, Balomenaki M, Beck-Peccoz P, Berr-Kirmair C, Bertherat J, Bolanowski M, Bollerslev J, Thierry B, 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, Greenman Y, Halperin I, Hanzu FA, Hermus A, Johannsson G, Hubina E, 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, Pfeiffer M, Pickel J, Pirags V, Ragnarsson O, Reghina AD, Reincke M, Riesgo P, Roberts M, Roerink S, Rowan C, Rudenko P, Sahnoun MA, 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, Webb S, Werner S, Young J, Zdunowski P, Zacharieva S, Zopf K, Zopp S, Zosin I, Webb SM, Wass J, Valassi E
Affiliated Institution / ERN: Hospital de la Santa Creu i Sant Pau ; Assistance Publique-Hôpitaux de Marseille ; University Hospital Würzburg ; Klinikum der Universität München ; Charité Universitätsmedizin Berlin ; Erasmus MC: University Medical Center Rotterdam ; Amsterdam UMC ;
Condition / Disease: Cushing disease
Publication: European Journal of Endocrinology v190.1 p75-85 Year: 2024 ORPHAcode / other: ORPHA96253
DOI: 10.1093/ejendo/lvad176 Keywords: Cushing's syndrome,ERCUSYN,risk factors,venous thromboembolism

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