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    Endocrine Conditions

    Endo-ERN is focused on 8 main thematic groups (MTGs) which cover rare and/or complex endocrine conditions

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    • MTG1Adrenal
    • MTG2Disorders of Calcium & Phosphate Homeostasis
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    • MTG6Hypothalamic and Pituitary Conditions
    • MTG7Sex Development & Maturation
    • MTG8Thyroid
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Endo ERN
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/ Publications Overview / Publications Database

Endo-ERN Publications Database

RDD IssuesBack to Publications Overview

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890 publication(s) found matching the search criteria

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
MTG1

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
MTG7

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
MTG7

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
MTG2

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
MTG2

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:
MTG5

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
DOI: https://doi.org/10.1111/cen.15000 Keywords:
MTG6

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
DOI: 10.1016/S0140-6736(23)02554-0 Keywords:
MTG1

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
MTG6

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
MTG7

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
DOI: 10.1007/s40618-024-02315-4 Keywords:
MTG7

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:
MTG7

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:
MTG7

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
MTG6

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
MTG8

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
MTG3

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
MTG3

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
MTG6

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
MTG7

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
MTG6

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
MTG6

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
MTG4

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
MTG6

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
MTG3

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
MTG6

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
MTG3

Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series


Author(s): Jacobs A, Cifelli P, Delbeck D, Elbarbary N, Gevers E, Sumnik Z, Amaratunga SA, Pundziute Lyckå A, Casteels K
Affiliated Institution / ERN: UZ Leuven ;
Condition / Disease: diabetes mellitus
Publication: Hormone Research in Paediatrics p1-5 Year: 2024 ORPHAcode / other: ORPHA101952
DOI: 10.1159/000536019 Keywords:
MTG3

Longitudinal Changes in Acylated versus Unacylated Ghrelin Levels May Be Involved in the Underlying Mechanisms of the Switch in Nutritional Phases in Prader-Willi Syndrome


Author(s): Grootjen LN, Diene G, Molinas C, Beauloye V, Huisman TM, Visser JA, Delhanty PJ, Kerkhof GF, Tauber M, Hokken-Koelega AC
Affiliated Institution / ERN: CHU de Toulouse ;
Condition / Disease: Prader-Willi syndrome
Publication: Hormone Research in Paediatrics v97.4 p343-352 Year: 2024 ORPHAcode / other: ORPHA739
DOI: 10.1159/000534560 Keywords: Children,Ghrelin,Growth hormone,Infants,Prader-Willi syndrome
MTG5

Relacorilant, a Selective Glucocorticoid Receptor Modulator in Development for the Treatment of Patients With Cushing Syndrome, Does Not Cause Prolongation of the Cardiac QT Interval


Author(s): Donegan DM, Pivonello R, Stigliano A, Lardo P, Kearney T, Mezősi E, Ghigo E, Giordano R, Mariash CN, Feelders RA, Donaldson K, Darpo B, Xue H, Custodio JM, Hand AL, Moraitis AG
Affiliated Institution / ERN: AOU Federico II - Naples ; AO City of Health and Science - Turin ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease: Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication: Endocrine Practice v30.1 p11-18 Year: 2024 ORPHAcode / other: ORPHA647758
DOI: 10.1016/j.eprac.2023.09.011 Keywords: Cushing syndrome,QT interval prolongation,cardiac safety,relacorilant,selective glucocorticoid receptor modulator
MTG1

Thyroid hormone receptor alpha modulates fibrogenesis in hepatic stellate cells


Author(s): Manka P, Coombes JD, Sydor S, Swiderska‐Syn MK, Best J, Gauthier K, van Grunsven LA, Oo YH, Wang C, Diehl AM, Hönes GS, Moeller LC, Figge A, Boosman R, Faber KN, Tannapfel A, Goetze O, Aspichueta P, Lange CM, Canbay A, Syn W
Affiliated Institution / ERN: University Hospital Essen ;
Condition / Disease: Hepatic fibrosis, Thyroid hormone receptor
Publication: Liver International v44.1 p125-138 Year: 2024 ORPHAcode / other:
DOI: 10.1111/liv.15759 Keywords: HSC,TGFβ,liver fibrosis,thyroid hormone receptor α,thyroid hormones
Page 4 of 30« First«...23456...102030...»Last »

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