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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
    • MTG3Genetic Disorders of Glucose & Insulin Homeostasis
    • MTG4Genetic Endocrine Tumour Syndromes
    • MTG5Growth & Genetic Obesity Syndromes
    • MTG6Hypothalamic and Pituitary Conditions
    • MTG7Sex Development & Maturation
    • MTG8Thyroid
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    Endo-ERN is a network of 100+ Reference Centres (RCs) in 27 EU member states+Norway that offers access to clinical experts for patients with rare endocrine conditions.  

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Endo ERN
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/ Publications Overview / Publications Database

Endo-ERN Publications Database

RDD IssuesBack to Publications Overview

Filter list of publications

890 publication(s) found matching the search criteria

Healthcare professionals’ perspectives towards the digitalisation of paediatric growth hormone therapies: expert panels in Italy and Korea


Author(s): Rivera Romero O, Chae HW, Faienza MF, Vergani E, Cheon CK, Di Mase R, Frasca F, Lee HS, Giavoli C, Kim J, Klain A, Moon JE, Iezzi ML, Yeh J, Aversa A, Rhie Y, Koledova E
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU Federico II - Naples ;
Condition / Disease: Combined pituitary hormone deficiencies, genetic forms
Publication: Frontiers in Endocrinology v15 Year: 2024 ORPHAcode / other: ORPHA95494
DOI: 10.3389/fendo.2024.1419667 Keywords:
MTG6

Diagnostic work-up of ACTH-dependent Cushing’s syndrome in the context of CRH shortage: recommendation of a task force from the European Society of Endocrinology


Author(s): Colao A, Scaroni C, Mezösi E, Saiegh L, Puig-Domingo M, Marques P, Deutschbein T
Affiliated Institution / ERN: AOU Federico II - Naples ; Unidade Local de Saúde de Santa Maria(ULS de Santa Maria) ;
Condition / Disease: Cushing disease
Publication: European Journal of Endocrinology v191.1 pR32-R35 Year: 2024 ORPHAcode / other: ORPHA96253
DOI: 10.1093/ejendo/lvae073 Keywords:
MTG6

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28–29 September 2023


Author(s): Ceccarini G, Akinci B, Araujo-Vilar D, Beghini M, Brown RJ, Carrion Tudela J, Corradin V, Donadille B, Jerez Ruiz J, Jeru I, Lattanzi G, Maffei M, McIlroy GD, Nobécourt E, Perez de Tudela N, Rochford JJ, Sanders R, von Schnurbein J, Tews D, Vantyghem M, Vatier C, Vigouroux C, Santini F
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; AOU Pisan ; Ulm University Medical Center ; AOU-Bologna ;
Condition / Disease: Familial partial lipodystrophy Type 1
Publication: Annales d'Endocrinologie v85.4 p308-316 Year: 2024 ORPHAcode / other: ORPHA98306
DOI: 10.1016/j.ando.2024.03.002 Keywords: Acanthosis nigricans,Adipogenesis,Caveolin,Gene therapy,Insulin resistance,Laminopathies,Leptin,Lipodystrophy syndromes,Metreleptin,NAFLD,PLAAT3,PPARγ,Perilipin,Registry,Seipin,Therapeutic education,VLDL1 secretion
MTG3

Radioligand Therapy in Patients with Lung Neuroendocrine Tumors: A Systematic Review on Efficacy and Safety


Author(s): Malandrino P, Feola T, Mikovic N, Cannavale G, Molfetta SD, Altieri B, Mancini C, Ferolla P, Colao A, Faggiano A
Affiliated Institution / ERN: AOU Federico II - Naples ; University Hospital Würzburg ;
Condition / Disease: Multiple endocrine neoplasia type 1
Publication: Seminars in Nuclear Medicine v54.4 p570-580 Year: 2024 ORPHAcode / other: ORPHA652
DOI: 10.1053/j.semnuclmed.2024.05.001 Keywords:
MTG4

Body Mass Index Distributions and Obesity Prevalence in a Transgender Youth Cohort – A Retrospective Analysis


Author(s): Knaus S, Steininger J, Klinger D, Riedl S
Affiliated Institution / ERN: Medical University of Vienna,Center for Disorders of Sex Development / Dpt. of Pediatrics ;
Condition / Disease: Transgender, female to male
Publication: Journal of Adolescent Health v75.1 p127-132 Year: 2024 ORPHAcode / other: ICD-10 F64
DOI: 10.1016/j.jadohealth.2024.03.005 Keywords: Adolescent,Auxology,Eating behaviours,Gender-affirming healthcare,Health behaviours,Obesity,Transgender
MTG7

EANM position on positron emission tomography in suspected functional pituitary neuroendocrine tumours


Author(s): Van Weehaeghe D, Lapauw B, Fraioli F, Cecchin D, Verger A, Guedj E, Albert NL, Brendel M, Yakushev I, Barthel H, Traub-Weidinger T, Tolboom N, Giessen EVD
Affiliated Institution / ERN: Ghent University Hospital ; Klinikum der Universität München ; University Medical Center Utrecht ; Amsterdam UMC ;
Condition / Disease: Pituitary adenoma
Publication: European Journal of Nuclear Medicine and Molecular Imaging v51.8 p2367-2370 Year: 2024 ORPHAcode / other: ORPHA99408
DOI: 10.1007/s00259-024-06728-4 Keywords:
MTG6

High Prevalence of Hypercalcitoninemia in a Large Cohort of Adult and Pediatric Patients With PTH Resistance Syndromes


Author(s): Cremaschi A, Del Sindaco G, Pagnano A, Dolci A, Berkenou J, Rothenbuhler A, Contarino A, Ferrante E, Arosio M, Giannetta E, Linglart A, Mantovani G
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; Hôpital Bicêtre ;
Condition / Disease: Pseudohypoparathyroidism, all known genes excluded (iPPSDx)
Publication: The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgae416 Year: 2024 ORPHAcode / other: ORPHA97593
DOI: 10.1210/clinem/dgae416 Keywords: C-cell hyperplasia,calcitonin,hormonal resistance,pseudohypoparathyroidism
MTG2

Safety and efficacy of nintedanib as second-line therapy for patients with differentiated or medullary thyroid cancer progressing after first-line therapy. A randomized phase II study of the EORTC Endocrine Task Force (protocol 1209-EnTF)


Author(s): Leboulleux S, Kapiteijn E, Litière S, Schöffski P, Godbert Y, Rodien P, Jarzab B, Salvatore D, Zanetta S, Capdevila J, Bastholt L, De La Fouchardiere C, Lalami Y, Bardet S, Cornélis F, Dedecjus M, Links T, Sents W, Schlumberger M, Locati DL, Newbold K
Affiliated Institution / ERN: University Medical Center Groningen ; Leiden University Medical Center ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease: Follicular thyroid carcinoma
Publication: Frontiers in Endocrinology v15 Year: 2024 ORPHAcode / other: ORPHA146
DOI: 10.3389/fendo.2024.1403687 Keywords: MTC,RAIR DTC,nintedanib,phase II trial,triple-angiokinase inhibitor
MTG8

Pelvic ultrasound and pubertal attainment in girls with sexual precocity: the pivotal role of uterine volume in predicting the timing of menarche


Author(s): Cattoni A, Russo G, Capitoli G, Rodari G, Nicolosi ML, Molinari S, Tondelli D, Pelliccia C, Radaelli S, Arosio AML, Fontana K, Tattesi G, Passoni P, Boneschi A, Giavoli C, Meroni SLC, Stancampiano MR, Garuti E, Biondi A, Balduzzi A, Bizzarri C
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; San Raffaele hospital - Milan ;
Condition / Disease: Pituitary adenoma
Publication: Frontiers in Endocrinology v15 Year: 2024 ORPHAcode / other: ORPHA99408
DOI: 10.3389/fendo.2024.1417281 Keywords: GnRH analogues,age of menarche,pelvic ultrasound,precocious puberty,uterine volume
MTG6 MTG7

Childhood craniopharyngioma: a retrospective study of children followed in Hôpital Universitaire de Bruxelles


Author(s): Magerman C, Boros E, Preziosi M, Lhoir S, Gilis N, De Witte O, Heinrichs C, Salmon I, Fricx C, Vermeulen F, Lebrun L, Brachet C, Rodesch M
Affiliated Institution / ERN: Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;
Condition / Disease: Craniopharyngioma
Publication: Frontiers in Endocrinology v15 Year: 2024 ORPHAcode / other: ORPHA54595
DOI: 10.3389/fendo.2024.1297132 Keywords: childhood craniopharyngioma,endocrine disorders,hypothalamic obesity,neurosurgery,radiotherapy,visual disorders
MTG6

Natural history and surgical outcomes of Rathke’s cleft cysts: a Spanish multicenter study


Author(s): Menéndez-Torre EL, Gutiérrez-Hurtado A, Ollero MD, Irigaray A, Martín P, Parra P, González-Molero I, Araujo-Castro M, Idrobo C, Moure MD, Molina AR, Biagetti B, Iglesias P, Paja M, Villar-Taibo R, Pena A, Vicente A, Guerrero-Pérez F, Cordido F, Aulinas A, Mateu M, Soto A
Affiliated Institution / ERN: Hospital de la Santa Creu i Sant Pau ; Hospital Universitari Vall d’Hebron ; Complejo Hospitalario Regional Virgen del Rocio ;
Condition / Disease: Non-functioning pituitary adenoma
Publication: Frontiers in Endocrinology v15 Year: 2024 ORPHAcode / other: ORPHA91349
DOI: 10.3389/fendo.2024.1413810 Keywords: Rathke’s cleft cyst,cyst size,pituitary,transsphenoidal surgery,visual impairment
MTG6

Integrative clinical, hormonal, and molecular data associate with invasiveness in acromegaly: REMAH study


Author(s): Sampedro-Nuñez M, Herrera-Martínez AD, Ibáñez-Costa A, Rivero-Cortés E, Venegas E, Robledo M, Martínez-Hernández R, García-Martínez A, Gil J, Jordà M, López-Fernández J, Gavilán I, Maraver S, Marqués-Pamies M, Cámara R, Fajardo-Montañana C, Valassi E, Dios E, Aulinas A, Biagetti B, Álvarez Escola C, Araujo-Castro M, Blanco C, Paz dM, Villar-Taibo R, Álvarez CV, Gaztambide S, Webb SM, Castaño L, Bernabéu I, Picó A, Gálvez M, Soto-Moreno A, Puig-Domingo M, Castaño JP, Marazuela M, Luque RM, Adrados M, Flores PM, Leví AMR, Serrano-Somavilla A, Díez JJ, Villanueva MG, Iglesias P, Berrocal VR, Gutiérrez EA, Bances L, Calvo Gracia FL, Comunas F, López IQ, Hernando CA, Luis JMP, Centeno RG, Iza B, López CP, Zamarrón ÃP, Alén JF, Gutiérrez MC, Sansinenea IP, Otero Ã, Córdova JMR, Sousa P, Belinchón J, Herguido MJ, de Lope ÃR, Delgado AV, Muñoz F, Santos A, Asla Q, Servat AS, Torres A, Vidal N, Villabona C, Sesmilo G, Cambra GC, Obiols G, Carrato C, Salinas I, Hostalot C, Blanco A, Zabala R, Simón I, Ibáñez J, Fernández HG, Serra G, Riesgo P, Simal-Julian JA, Lamas C, Sandoval H, Abarca J, Mendoza NA, Ortiga RS, Monjas I, Font TP, Troncoso IA, Catalina PF, San Martín RMÃ, Ballesteros Pomar MD, Romero SP, Rodríguez EF, García-Allut A, Serramito R, Prieto A, Bellas LC, Pardo JIV, Expósito MRA, Moreno-Moreno P, Padillo-Cuenca JC, Vázquez-Borrego MC, Fuentes-Fayos AC, Leal-Cerro A, Japón MÃ, Rivera NG, Arnés JAG, González-Molero I, Maraver-Selfa S, Vela ET, Avilés-Pérez MD, Tenorio-Jiménez C, Carazo AM, García JGO
Affiliated Institution / ERN: Hospital de la Santa Creu i Sant Pau ; Hospital Universitario Cruces ; Complejo Hospitalario Regional Virgen del Rocio ; Hospital Universitari Vall d’Hebron ;
Condition / Disease: Acromegaly
Publication: European Journal of Endocrinology v190.6 p421-433 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1093/ejendo/lvae045 Keywords: REMAH study,combined molecular and clinical biomarkers,curation,pituitary tumor,transsphenoidal surgery
MTG6

Clinical practice guidelines for the care of girls and women with Turner syndrome


Author(s): Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA, Alvarez-Nava F, Avdic HB, Balle CM, Bamba V, Bedei I, Bonnard Ã, Brickman WJ, Brown NM, Chernausek S, Cobbold J, Corathers SD, Corpechot C, Crenshaw ML, Davies M, Deeb A, Dessens A, Dowlut-McElroy T, Elliott V, Fadoju D, Fechner PY, Geffner M, Gitomer S, de Groote K, Hewitt J, Ho C, Hutaff-Lee C, Isojima T, Johannsen EB, Kawai M, Keselman A, Knickmeyer RC, Kremen J, Kristrøm B, Kruszka P, Law J, Lin AE, Loechner K, Mauras N, Matthews D, Mikkelborg T, Mortensen KH, Nahata L, Norman M, Patel SR, Quigley C, Ridder LO, Santen RJ, Sheanon N, Smyth A, Turner H, Verlinde F, Viuff MH, Wasniewska M, van der Weijde B, Woelfle J, Wolstencroft J, Backeljauw PF
Affiliated Institution / ERN: Aarhus University Hospital ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease: 45,X
Publication: European Journal of Endocrinology v190.6 pG53-G151 Year: 2024 ORPHAcode / other: ORPHA881
DOI: 10.1093/ejendo/lvae050 Keywords: Turner syndrome,cardiovascular health,co-morbidity,hypogonadism,infertility,neurocognition,transition
MTG7

Effectiveness of combined first-line medical treatment in acromegaly with prolactin cosecretion


Author(s): Biagetti B, Araujo-Castro M, Torre EM, Novoa-Testa I, Cordido F, Corrales EP, Berrocal VR, Guerrero-Pérez F, Vicente A, Percovich JC, Centeno RG, González L, García MDO, Echarri AI, Rodríguez MDM, Novo-Rodríguez C, Calatayud M, Villar-Taibo R, Bernabéu I, Alvarez-Escola C, Valderrama PB, Tenorio-Jiménez C, Galiana PA, Moreno EV, Molero IG, Iglesias P, Blanco C, De Lara FV, de Miguel P, Mezquita EL, Hanzu F, Aldecoa I, Aznar S, Lamas C, Aulinas A, Asla Roca Q, Gracia P, Córdova JMR, Aviles M, Asensio-Wandosel D, Sampedro M, Cámara R, Paja M, Ruz-Caracuel I, Fajardo-Montañana C, Asanza EC, Martinez-Saez E, Marazuela M, Puig-Domingo M
Affiliated Institution / ERN: Hospital de la Santa Creu i Sant Pau ; Hospital Universitari Vall d’Hebron ; Complejo Hospitalario Regional Virgen del Rocio ;
Condition / Disease: Acromegaly
Publication: European Journal of Endocrinology v190.6 p458-466 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1093/ejendo/lvae053 Keywords: acromegaly,cabergoline,dopamine agonist,first-line treatment,prolactin,somatostatin receptor ligand
MTG6

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges


Author(s): Prawitt D, Eggermann T
Affiliated Institution / ERN: University Hospital Aachen ; University Medical Center Mainz ;
Condition / Disease: Beckwith-Wiedemann Syndrome
Publication: Frontiers in Genetics v15 Year: 2024 ORPHAcode / other: ORPHA116
DOI: 10.3389/fgene.2024.1382371 Keywords: diagnostics,long read sequencing,massive parallel sequencing (MPS),mosaicism,omics,overgrowth
MTG5

A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype


Author(s): Pasca L, Politano D, Cavallini A, Panzeri E, Vigone MC, Baldoli C, Abbate M, Kullmann G, Marelli S, Pozzobon G, Vincenzi G, Nacinovich R, Bassi MT, Romaniello R
Affiliated Institution / ERN: San Raffaele hospital - Milan ;
Condition / Disease: Septo-optic Dysplasia
Publication: Neuropediatrics v55.03 p191-195 Year: 2024 ORPHAcode / other: ORPHA3157; ORPHA46; ORPHA95488;
DOI: 10.1055/a-2114-4387 Keywords:
MTG6

Italian Guidelines for the Management of Sporadic Primary Hyperparathyroidism


Author(s): Vescini F, Borretta G, Chiodini I, Boniardi M, Carotti M, Castellano E, Cipriani C, Eller-Vainicher C, Giannini S, Iacobone M, Salcuni AS, Saponaro F, Spiezia S, Versari A, Zavatta G, Mitrova Z, Saulle R, Vecchi S, Antonini D, Basile M, Giovanazzi A, Paoletta A, Papini E, Persichetti A, Samperi I, Scoppola A, Novizio R, Calò PG, Cetani F, Cianferotti L, Corbetta S, De Rimini ML, Falchetti A, Iannetti G, Laureti S, Lombardi CP, Madeo B, Marcocci C, Mazzaferro S, Miele V, Minisola S, Palermo A, Pepe J, Scillitani A, Tonzar L, Grimaldi F, Cozzi R, Attanasio R
Affiliated Institution / ERN: Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; IRCCS Auxologico Italian Institute - Milan ; University Hospital of Padova ; AOU Pisan ; AOU-Bologna ; University Hospital Florence ; AOU Policlinico Umberto I - Rome ;
Condition / Disease: Hyperparathyroidism
Publication: Endocrine, Metabolic & Immune Disorders - Drug Targets v24.8 p991-1006 Year: 2024 ORPHAcode / other: ORPHA181408
DOI: 10.2174/0118715303260423231122111705 Keywords:
MTG2

Primary Hypothyroidism in Childhood Cancer Survivors Treated With Radiation Therapy: A PENTEC Comprehensive Review


Author(s): Milano MT, Vargo JA, Yorke ED, Ronckers CM, Kremer LC, Chafe SM, van Santen HM, Marks LB, Bentzen SM, Constine LS, Vogelius IR
Affiliated Institution / ERN: Amsterdam UMC ; University Medical Center Utrecht ; Copenhagen University Hospital, Rigshospitalet ;
Condition / Disease: Pediatric primary hypothyroidism
Publication: International Journal of Radiation Oncology*Biology*Physics v119.2 p482-493 Year: 2024 ORPHAcode / other:
DOI: 10.1016/j.ijrobp.2021.02.001 Keywords:
MTG8

Cardiac magnetic resonance reveals biventricular impairment in Cushing’s syndrome: a multicentre case-control study


Author(s): Feola T, Cozzolino A, De Alcubierre D, Pofi R, Galea N, Catalano C, Simeoli C, Di Paola N, Campolo F, Pivonello R, Isidori AM, Giannetta E
Affiliated Institution / ERN: AOU Federico II - Naples ; AOU Policlinico Umberto I - Rome ;
Condition / Disease: Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication: Endocrine v85.2 p937-946 Year: 2024 ORPHAcode / other: ORPHA647758
DOI: 10.1007/s12020-024-03856-7 Keywords: Cardiac magnetic resonance,Cardiomyopathy,Cushing’s syndrome,Glucocorticoid,Heart,Hypercortisolism
MTG1

Sociodemographic profile, health-related behaviours and experiences of healthcare access in Italian transgender and gender diverse adult population


Author(s): Marconi M, Pagano MT, Ristori J, Bonadonna S, Pivonello R, Meriggiola MC, Motta G, Lombardo F, Mosconi M, Oppo A, Cocchetti C, Romani A, Federici S, Bruno L, Verde N, Lami A, Crespi CM, Marinelli L, Giordani L, Matarrese P, Ruocco A, Santangelo C, Contoli B, Masocco M, Minardi V, Chiarotti F, Fisher AD, Pierdominici M
Affiliated Institution / ERN: AOU Federico II - Naples ; IRCCS Auxologico Italian Institute - Milan ; University Hospital Florence ; AO City of Health and Science - Turin ; AOU Policlinico Umberto I - Rome ;
Condition / Disease: Transgender, female to male
Publication: Journal of Endocrinological Investigation v47.11 p2851-2864 Year: 2024 ORPHAcode / other: ICD-10 F64
DOI: 10.1007/s40618-024-02362-x Keywords: Binary,Cancer screening,General health,Non-binary,Prevention,Transgender
MTG7

Treatment trajectories of gender incongruent Austrian youth seeking gender-affirming hormone therapy


Author(s): Steininger J, Knaus S, Kaufmann U, Ott J, Riedl S
Affiliated Institution / ERN: Medical University of Vienna,Center for Disorders of Sex Development / Dpt. of Pediatrics ;
Condition / Disease: Transgender, female to male
Publication: Frontiers in Endocrinology v15 Year: 2024 ORPHAcode / other: ICD-10 F64
DOI: 10.3389/fendo.2024.1258495 Keywords: fertility preservation,gender-affirming care,hormone therapy,legal gender marker,transgender
MTG7

Pegvisomant and pasireotide in PRL and GH co-secreting vs GH-secreting Pit-NETs


Author(s): Araujo-Castro M, Biagetti B, Menéndez Torre E, Novoa-Testa I, Cordido F, Pascual-Corrales E, Rodríguez Berrocal V, Guerrero-Pérez F, Vicente A, Percovich Hualpa JC, García-Centeno R, González-Fernández L, Ollero García MD, Irigaray Echarri A, Moure Rodríguez MD, Novo-Rodríguez C, Calatayud M, Villar-Taibo R, Bernabéu I, Alvarez-Escola C, Benítez Valderrama P, Tenorio-Jiménez C, Abellán Galiana P, Venegas E, González-Molero I, Iglesias P, Blanco-Carrera C, Vidal-Ostos De Lara F, de Miguel Novoa P, López Mezquita E, Hanzu FA, Aldecoa I, Aznar S, Lamas C, Aulinas A, Asla Q, Gracia Gimeno P, Recio-Córdova JM, Avilés-Pérez MD, Asensio-Wandosell D, Sampedro-Núñez M, Cámara R, Paja Fano M, Ruz-Caracuel I, Fajardo C, Marazuela M, Puig-Domingo M
Affiliated Institution / ERN: Hospital de la Santa Creu i Sant Pau ; Hospital Universitari Vall d’Hebron ; Complejo Hospitalario Regional Virgen del Rocio ;
Condition / Disease: Acromegaly
Publication: Endocrine-Related Cancer v31.7 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1530/ERC-24-0043 Keywords: acromegaly,pasireotide,pegvisomant,pituitary neuroendocrine tumors,prolactin
MTG6

European Society of Endocrinology and Endocrine Society Joint Clinical Guideline: Diagnosis and therapy of glucocorticoid-induced adrenal insufficiency


Author(s): Felix Beuschlein, Tobias Else, Irina Bancos, Stefanie Hahner, Oksana Hamidi, Leonie van Hulsteijn, Eystein S Husebye, Niki Karavitaki, Alessandro Prete, Anand Vaidya, Christine Yedinak, Olaf M Dekkers
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: European Journal of Endocrinology Volume 190, Issue 5 Year: 2024 ORPHAcode / other: ORPHA418; ORPHA96253; ORPHA647758; ORPHA189427; ORPHA314749;
DOI: 10.1093/ejendo/ivad008 Keywords: Adrenal insufficiency, glucocorticoids, steroids, adrenal crisis, substitution therapy, glucocorticoid withdrawal
MTG1 MTG6

The behavioral component of sexual inhibition and its relation with testosterone levels: An fMRI study in transgender and cisgender individuals


Author(s): Kennis M, Dewitte M, T’Sjoen G, Stinkens K, Sack A, Duecker F
Affiliated Institution / ERN: Ghent University Hospital ; Maastricht University Medical Center+ ;
Condition / Disease: Transgender, female to male
Publication: Psychoneuroendocrinology v163 p106963 Year: 2024 ORPHAcode / other: ICD-10 F64
DOI: 10.1016/j.psyneuen.2024.106963 Keywords:
MTG7

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center


Author(s): Neocleous V, Fanis P, Toumba M, Skordis N, Phylactou LA
Affiliated Institution / ERN: Cyprus Institute of Neurology and Genetics ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: Orphanet Journal of Rare Diseases v19.1 Year: 2024 ORPHAcode / other: ORPHA418
DOI: 10.1186/s13023-024-03171-4 Keywords: MKRN3,RET,CAH,DSD,ENDO-ERN,Endocrine disorders,MEN2,MODY
MTG4 MTG7

The effect of coping strategies on health–related quality of life in acromegaly patients


Author(s): Schock L, Chmielewski WX, Siegel S, Detomas M, Deutschbein T, Giese S, Honegger J, Unger N, Kreitschmann-Andermahr I
Affiliated Institution / ERN: University Hospital Essen ; University Hospital Würzburg ; Universitätsklinikum Tübingen ;
Condition / Disease: Acromegaly
Publication: Endocrine v84.3 p1108-1115 Year: 2024 ORPHAcode / other: ORPHA963
DOI: 10.1007/s12020-024-03813-4 Keywords:
MTG6

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
MTG6

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
DOI: 10.1016/S2213-8587(24)00028-7 Keywords:
MTG7

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
MTG4

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
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