Endo-ERN Publications Database
847 publication(s) found matching the search criteria
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
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
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
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
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
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
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
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 MartÃn 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
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
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
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;
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:
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
