Endo-ERN Publications Database
854 publication(s) found matching the search criteria
Therapeutic potential of targeting the FLNA‐regulated Wee1 kinase in adrenocortical carcinomas
Author(s):
Esposito E, Marra G, Catalano R, Maioli S, Nozza E, Barbieri AM, Hantel C, Di Dalmazi G, Sigala S, Geginat J, Cassinotti E, Baldari L, Palmieri S, Mangone A, Berruti A, Ferrante E, Mantovani G, Peverelli E
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU-Bologna ;
Condition / Disease:
Adrenocortical carcinoma
Publication:
International Journal of Cancer v156.6 p1256-1271
Year:
2025
ORPHAcode / other:
ORPHA1501
DOI:
10.1002/ijc.35239
Keywords:
Wee1,adavosertib,adrenocortical carcinomas,cell cycle regulation,filamin A,therapeutic target
New Horizons in Klinefelter Syndrome: Current Evidence, Gaps, and Research Priorities
Author(s):
Lucas-Herald AK, Aksglaede L, Caspersen ID, Ahmed SF, Carlomagno F, Isidori AM
Affiliated Institution / ERN:
Copenhagen University Hospital, Rigshospitalet ; AOU Policlinico Umberto I - Rome ;
Condition / Disease:
Other
Publication:
Endocrine Reviews doi:10.1210/endrev/bnaf005
Year:
2025
ORPHAcode / other:
ORPHA325546
DOI:
10.1210/endrev/bnaf005
Keywords:
Klinefelter,bone,cardiovascular,fertility,neurodevelopment,testosterone
Osilodrostat improves blood pressure and glycemic control in patients with Cushing’s disease: a pooled analysis of LINC 3 and LINC 4 studies
Author(s):
Fleseriu M, Pivonello R, Newell-Price J, Gadelha MR, Biller BMK, Auchus RJ, Feelders RA, Shimatsu A, Witek P, Bex M, Piacentini A, Pedroncelli AM, Lacroix A
Affiliated Institution / ERN:
UZ Leuven ; AOU Federico II - Naples ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
Pituitary adenoma
Publication:
Pituitary v28.1
Year:
2025
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s11102-024-01471-3
Keywords:
Cortisol normalization,Cushing’s disease,Diabetes,Hypertension,Long-term treatment,Osilodrostat
Correction to: Long-term safety and effectiveness of a somatropin biosimilar (Omnitrope®) in children requiring growth hormone therapy: analysis of final data of Italian patients enrolled in the PATRO children study
Author(s):
Iughetti L, Antoniazzi F, Giavoli C, Bellone S, Aversa T, Guazzarotti L, Street ME, Miraglia del Giudice E, Persani L, Pozzobon G, Ragusa L, Stagi S, Tornese G, Zecchino C, Mameli C, Zecchi E, Fedeli P, Zabransky M, Lucaccioni L, Zucchini S
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU University of Campania "Luigi Vanvitelli", Naples ; AOUI Verona ; University Hospital Florence ; San Raffaele hospital - Milan ; Meyer Children’s Hospital Florence ; IRCCS Auxologico Italian Institute - Milan ; AOU-Bologna ; University Hospital of Padova ;
Condition / Disease:
Combined pituitary hormone deficiencies, genetic forms
Publication:
Endocrine doi:10.1007/s12020-025-04162-6
Year:
2025
ORPHAcode / other:
ORPHA95494
Diagnostic Value of 11C-Methionine PET-CT Imaging in Persistent or Recurrent Cushing Disease After Surgery
Author(s):
Furnica RM, Devuyst F, Mathey C, Constantinescu SM, De Herdt C, Alexopoulou O, Lhommel R, Maiter D
Affiliated Institution / ERN:
University Hospital Liège ; University Hospitals Saint-Luc ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ;
Condition / Disease:
Cushing disease
Publication:
The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgaf047
Year:
2025
ORPHAcode / other:
ORPHA96253
DOI:
10.1210/clinem/dgaf047
Keywords:
11C-Methionine PET/CT,functional imaging,persistent/recurrent Cushing’s disease,therapeutic intervention
Challenges in Adolescent and Adult Males With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Author(s):
Claahsen-van der Grinten HL, Adriaansen BPH, Falhammar H
Affiliated Institution / ERN:
Karolinska University Hospital ; Amsterdam UMC ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
The Journal of Clinical Endocrinology & Metabolism v110.Supplement_1 pS25-S36
Year:
2025
ORPHAcode / other:
ORPHA418
DOI:
10.1210/clinem/dgae718
Keywords:
bone health,cardiometabolic health,congenital adrenal hyperplasia,hypergonadotropic hypogonadism,testicular adrenal rest tumors,transition of care
Cardiometabolic Aspects of Congenital Adrenal Hyperplasia
Author(s):
Krysiak R, Claahsen-van der Grinten HL, Reisch N, Touraine P, Falhammar H
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ; Karolinska University Hospital ; Klinikum der Universität München ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Endocrine Reviews v46.1 p80-148
Year:
2025
ORPHAcode / other:
ORPHA418
DOI:
10.1210/endrev/bnae026
Keywords:
21-hydroxylase deficiency,androgens,atherosclerosis,blood pressure,cardiovascular disease,glucocorticoids,insulin resistance,risk factors
Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency
Author(s):
Boogers LS, Brüggenwirth HT, Wolffenbuttel KP, Hersmus R, Bryce J, Ahmed SF, Lucas-Herald AK, Baronio F, Cools M, Ellaithi M, Globa E, Güran T, Hiort O, Holterhus P, MсElreavey K, Niedziela M, Stancampiano MR, Tosun BG, van Bever Y, Oosterhuis JW, Looijenga LHJ, Hannema SE
Affiliated Institution / ERN:
Ghent University Hospital ; Amsterdam UMC ; Karol Jonscher Clinical Hospital of Poznań University of Medical Sciences ;
Condition / Disease:
Other
Publication:
European Journal of Endocrinology v192.1 p34-45
Year:
2025
ORPHAcode / other:
ORPHA98085
DOI:
10.1093/ejendo/lvae154
Keywords:
17beta-HSD deficiency,5alpha-reductase deficiency,disorder of sex development,germ cell cancer,hypogonadism,puberty,testis
Screening and surveillance practices for Multiple Endocrine Neoplasia type 1‐related Neuroendocrine Tumours in European Neuroendocrine Tumor Society Centers of Excellence (ENETS CoE)—An ENETS MEN1 task force questionnaire study
Author(s):
Pieterman CRC, Grozinsky‐Glasberg S, O'Toole D, Howe JR, Ambrosini V, Belli SH, Andreassen M, Begum N, Denecke T, Faggiano A, Falconi M, Grey J, Knigge UP, Kolarova T, Niederle B, Nieveen van Dijkum E, Partelli S, Pascher A, Rindi G, Ruszniewski P, Stättner S, Vandamme T, Valle JW, Vullierme M, Welin S, Perren A, Bartsch DK, Kaltsas GK, Valk GD
Affiliated Institution / ERN:
University Medical Center Utrecht ; AOU-Bologna ; Copenhagen University Hospital, Rigshospitalet ; San Raffaele hospital - Milan ; Medical University of Vienna,Center for Rare Endocrinologic Diseases / Dpt. of Internal Medicine III ; Amsterdam UMC ; UZ Antwerpen ;
Condition / Disease:
Multiple endocrine neoplasia type 1
Publication:
Journal of Neuroendocrinology v37.1
Year:
2025
ORPHAcode / other:
ORPHA652
DOI:
10.1111/jne.13468
Keywords:
multiple endocrine neoplasia type 1,neuroendocrine tumour,screening,surveillance,survey
Personalized Medicine in Acromegaly: The ACROFAST Study
Author(s):
Marques-Pamies M, Gil J, Sampedro-Nuñez M, Valassi E, Biagetti B, Giménez-Palop O, Hernández M, Martínez S, Carrato C, Villar-Taibo R, Araujo-Castro M, Blanco C, Simón-Muela I, Simó-Servat A, Xifra G, Vázquez F, Pavón I, Rosado JA, García-Centeno R, Zavala R, Hanzu FA, Mora M, Aulinas A, Vilarrasa N, Librizzi S, Calatayud M, de Miguel P, Alvarez-Escola C, Picó A, Salinas I, Fajardo-Montañana C, Cámara R, Bernabéu I, Jordà M, Webb SM, Marazuela M, Puig-Domingo M
Affiliated Institution / ERN:
Hospital de la Santa Creu i Sant Pau ; Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Acromegaly
Publication:
The Journal of Clinical Endocrinology & Metabolism v110.1 p30-40
Year:
2024
ORPHAcode / other:
ORPHA963
DOI:
10.1210/clinem/dgae444
Keywords:
acromegaly,clinical trial,first-generation somatostatin receptor ligands,medical treatment,personalized therapy,therapeutic response prediction
Towards standardization of person‐reported outcomes (PROs) in pediatric diabetes research: A consensus report
Author(s):
Barnard‐Kelly K, Marrero D, de Wit M, Pouwer F, Khunti K, Hermans N, Pierce JS, Laffel L, Holt RIG, Battelino T, Naranjo D, Fosbury J, Fisher L, Polonsky W, Weissberg‐Benchell J, Hood KK, Schnell O, Messer LH, Danne T, Nimri R, Skovlund S, Mader JK, Sherr JL, Schatz D, O'Neill S, Doble E, Town M, Lange K, de Beaufort C, Gonder‐Frederick L, Jaser SS, Liberman A, Klonoff D, Elsayed NA, Bannuru RR, Ajjan R, Parkin C, Snoek FJ
Affiliated Institution / ERN:
Centre Hospitalier de Luxembourg ; Amsterdam UMC ; University Medical Centre Ljubljana ; Hannoversche Kinderheilanstalt ;
Condition / Disease:
Diabetes mellitus
Publication:
Diabetic Medicine doi:10.1111/dme.15484
Year:
2024
ORPHAcode / other:
ORPHA101952
DOI:
10.1111/dme.15484
Keywords:
T1D diabetes,adolescents,children,distress,patient‐reported outcomes,quality of life
Gonadotropin Therapy for Mini-Puberty Induction in Male Infants With Hypogonadotropic Hypogonadism
Author(s):
Rhys-Evans S, d’Aniello F, Alexander EC, Dinah IF, Heger S, Nordenstrom A, Rohayem J, Howard SR
Affiliated Institution / ERN:
Karolinska University Hospital ; Charité Universitätsmedizin Berlin ;
Condition / Disease:
Combined pituitary hormone deficiencies, genetic forms
Publication:
The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgae874
Year:
2024
ORPHAcode / other:
ORPHA95494
DOI:
10.1210/clinem/dgae874
Keywords:
congenital hypogonadotropic hypogonadism,fertility,gonadotropin deficiency,gonadotropin treatment,mini-puberty
Diazoxide toxicity in congenital hyperinsulinism: A case report
Author(s):
Pajno R, Visconti C, Bucolo C, Guarneri MP, Del Barba P, Silvani P, Gregnanin M, Barera G
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
Familial hyperinsulinism
Publication:
World Journal of Clinical Pediatrics v13.4
Year:
2024
ORPHAcode / other:
ORPHA276525
DOI:
10.5409/wjcp.v13.i4.94156
Keywords:
Case report,Congenital hyperinsulinism,Diazoxide,Hypoglycemia,Side effect
Trends and Outcomes in Pituitary Apoplexy Management: A Spanish Observational Multicenter Study
Author(s):
Biagetti B, Cordero Asanza E, García-Feijoo P, Araujo-Castro M, Rodríguez Berrocal V, Serra G, Guerrero-Pérez F, Cámara R, Lamas C, Ollero García MD, Vicente A, Irigaray Echarri A, Villar-Taibo R, Moure Rodríguez MD, Pérez-López C, González-Molero I, Sánchez Ramírez MN, Gutiérrez Hurtado A, Capristan-Díaz V, Simó-Servat A, Gallach M, Safont Pérez E, González Rosa V, Civantos S, Martinez-Saez E, García-Arabehety J, Menéndez Torre E, Aulinas A, Iglesias P, Díez JJ, Bernabéu I, Álvarez-Escolá C, Puig-Domingo M
Affiliated Institution / ERN:
Hospital de la Santa Creu i Sant Pau ; Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Acquired pituitary hormone deficiency
Publication:
Neurosurgery doi:10.1227/neu.0000000000003281
Year:
2024
ORPHAcode / other:
ORPHA95502
Health-related Quality of Life, Social, and Psychological Well-Being of 109 Adult Patients With Genetic Lipodystrophy
Author(s):
Mosbah H, Vatier C, Andriss B, Belalem I, Delemer B, Janmaat S, Bouhnik A, Le Collen L, Maiter D, Nobécourt E, Vantyghem M, Vigouroux C, Dumas A
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; University Hospitals Saint-Luc ;
Condition / Disease:
Familial partial lipodystrophy Type 1
Publication:
The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgae837
Year:
2024
ORPHAcode / other:
ORPHA98306
DOI:
10.1210/clinem/dgae837
Keywords:
lipodystrophy syndrome,psychosocial impact,quality of life,rare disease,self-report,well-being
Endocrine management of transgender and gender diverse adolescents: expert opinion of the ESPE Working Group on Gender Incongruence and the Endo-ERN main thematic group on Sexual Development and Maturation
Author(s):
Hannema SE, Busiah K, Butler G, Claahsen-van de Grinten HL, Cools M, Gawlik-Starzyk AM, Klink D, Main KM, Martinerie L, Richter-Unruh A, Skordis N, de Vries MC
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ; Ghent University Hospital ;
Condition / Disease:
Transgender, female to male
Publication:
Hormone Research in Paediatrics p1-41
Year:
2024
ORPHAcode / other:
ICD-10 F64
Long‐term sequelae and quality of life after childhood‐onset craniopharyngioma: Results of a Spanish multicenter study
Author(s):
Pérez‐Torres Lobato MR, Morell M, Solano‐Páez P, Ortiz‐Palacios M, Menárgez Ã, Panesso M, Vázquez‐Gómez F, Moreno‐Carrasco J, Lassaletta Ã, Santa‐María V, Pavon‐Mengual M, Quiroga E, García‐Ariza MA, Mora‐Matilla M, Garrido‐Colino C, Verdú‐Amoros J, Nova‐Lozano C, Vieito M, Cordero‐Asanza EX, Clemente M, Ramos‐Albiat M, de las Morenas‐Iglesias J, Moreno L, Llort A
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Craniopharyngioma
Publication:
Pediatric Blood & Cancer v71.12
Year:
2024
ORPHAcode / other:
ORPHA54595
DOI:
10.1002/pbc.31343
Keywords:
craniopharyngioma,hypothalamus,pediatrics,quality of life,treatment
Circadian clock disruption impairs immune oscillation in chronic endogenous hypercortisolism: a multi-level analysis from a multicentre clinical trial
Author(s):
Hasenmajer V, Sbardella E, Sciarra F, Simeoli C, Pivonello C, Ceccato F, Pofi R, Minnetti M, Rizzo F, Ferrari D, Bonaventura I, Barbagallo F, Giannetta E, Alunni Fegatelli D, Conia S, Navigli R, Arnaldi G, Scaroni C, Pivonello R, Gianfrilli D, Venneri MA, Isidori AM
Affiliated Institution / ERN:
AOU Federico II - Naples ; AOU Policlinico Umberto I - Rome ; University Hospital of Padova ;
Condition / Disease:
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication:
eBioMedicine v110 p105462
Year:
2024
ORPHAcode / other:
ORPHA647758
DOI:
10.1016/j.ebiom.2024.105462
Keywords:
Circadian rhythm,Cushing's syndrome,Glucocorticoids,Hypercortisolism,Immune system
Genome-wide methylation profiling differentiates benign from aggressive and metastatic pituitary neuroendocrine tumors
Author(s):
Jotanovic J, Boldt HB, Burton M, Andersen MS, Bengtsson D, Bontell TO, Ekman B, Engström BE, Feldt-Rasmussen U, Heck A, Jakovcevic A, Jørgensen JOL, Kraljevic I, Kunicki J, Lindsay JR, Losa M, Loughrey PB, Maiter D, Maksymowicz M, Manojlovic-Gacic E, Pahnke J, Petersenn S, Petersson M, Popovic V, Ragnarsson O, Rasmussen ÃK, Reisz Z, Saeger W, Schalin-Jäntti C, Scheie D, Terreni MR, Tynninen O, Whitelaw B, Burman P, Casar-Borota O
Affiliated Institution / ERN:
Copenhagen University Hospital, Rigshospitalet ; Odense University Hospital ; Sahlgrenska University Hospital ; Helsinki University Hospital (HUS) ; Oslo University Hospital ; San Raffaele hospital - Milan ; Sestre milosrdnice University Hospital Center ;
Condition / Disease:
Pituitary adenoma
Publication:
Acta Neuropathologica v148.1
Year:
2024
ORPHAcode / other:
ORPHA99408
DOI:
10.1007/s00401-024-02836-5
Keywords:
Aggressive pituitary tumor,Methylation analysis,Pituitary adenoma,Pituitary carcinoma,Pituitary neuroendocrine tumor
Gender-Affirming Treatment and Employment Rate in 3812 Danish Transgender Persons and 38 120 Controls
Author(s):
Glintborg D, Møller JK, Rubin KH, Lidegaard Ã, T’Sjoen G, Larsen MJÃ, Hilden M, Andersen MS
Affiliated Institution / ERN:
Ghent University Hospital ; Odense University Hospital ; Copenhagen University Hospital, Rigshospitalet ;
Condition / Disease:
Transgender, female to male
Publication:
The Journal of Clinical Endocrinology & Metabolism v109.12 p3076-3086
Year:
2024
ORPHAcode / other:
ICD-10 F64
DOI:
10.1210/clinem/dgae351
Keywords:
gender-affirming hormone,medicine prescription,mental health,register-based,socioeconomic status,transgender
Differences Between GH- and PRL-Cosecreting and GH-Secreting Pituitary Adenomas: a Series of 604 Cases
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 JC, García Centeno R, González L, Ollero García MD, Irigaray Echarri A, Moure Rodríguez MD, Novo-Rodríguez C, Calatayud M, Villar R, Bernabéu I, Alvarez-Escola C, Benítez Valderrama P, Tenorio-Jimenéz C, Abellán Galiana P, Venegas Moreno E, González Molero I, Iglesias P, Blanco C, Vidal-Ostos De Lara F, de Miguel P, López Mezquita E, Hanzu F, Aldecoa I, Lamas C, Aznar S, Aulinas A, Calabrese A, Gracia P, Recio-Córdova JM, Aviles M, Asensio-Wandosel D, Sampedro M, Ruz-Caracuel I, Camara R, Paja M, Fajardo-Montañana 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:
The Journal of Clinical Endocrinology & Metabolism v109.12 pe2178-e2187
Year:
2024
ORPHAcode / other:
ORPHA963
DOI:
10.1210/clinem/dgae126
Keywords:
acromegaly,mixed tumors,pituitary adenoma,prolactin,surgical remission
Delineating the Psychiatric Morbidity Spectrum in Congenital Adrenal Hyperplasia: A Population-based Registry Study
Author(s):
Lind-Holst M, Hansen D, Main KM, Juul A, Andersen MS, Dunø M, Rasmussen ÃK, Jørgensen N, Gravholt CH, Berglund A
Affiliated Institution / ERN:
Copenhagen University Hospital, Rigshospitalet ; Aarhus University Hospital ; Odense University Hospital ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgae780
Year:
2024
ORPHAcode / other:
ORPHA418
Genotype-phenotype correlation and feminizing surgery in Danish children with congenital adrenal hyperplasia
Author(s):
Lind-Holst M, Berglund A, Duno M, Hvistendahl G, Fossum M, Juul A, Jørgensen N, Main KM, Gravholt CH, Hansen D
Affiliated Institution / ERN:
Copenhagen University Hospital, Rigshospitalet ; Aarhus University Hospital ; Odense University Hospital ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Hormone Research in Paediatrics p1-20
Year:
2024
ORPHAcode / other:
ORPHA418
Who and how to screen for endogenous hypercortisolism in patients with mood disorders
Author(s):
Ferrante E, Simeoli C, Mantovani G, Pivonello R
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ; AOU Federico II - Naples ;
Condition / Disease:
Cushing disease
Publication:
Journal of Endocrinological Investigation doi:10.1007/s40618-024-02457-5
Year:
2024
ORPHAcode / other:
ORPHA96253
DOI:
10.1007/s40618-024-02457-5
Keywords:
Cushing’s syndrome,Depression,Mood disorders,Non-neoplastic hypercortisolism
Who and how to screen for endogenous hypercortisolism in patients with mood disorders
Author(s):
Ferrante E, Simeoli C, Mantovani G, Pivonello R
Affiliated Institution / ERN:
AOU Federico II - Naples ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Cushing disease
Publication:
Journal of Endocrinological Investigation doi:10.1007/s40618-024-02457-5
Year:
2024
ORPHAcode / other:
ORPHA96253
DOI:
10.1007/s40618-024-02457-5.
Keywords:
Cushing’s syndrome,Depression,Mood disorders,Non-neoplastic hypercortisolism
The Definition of Recurrence of Differentiated Thyroid Cancer: A Systematic Review of the Literature
Author(s):
van de Berg DJ, Rodriguez Schaap PM, Jamaludin FS, van Santen HM, Clement SC, Vriens MR, van Trotsenburg ASP, Mooij CF, Bruinstroop E, Kruijff S, Peeters RP, Verburg FA, Netea-Maier RT, Nieveen van Dijkum EJM, Derikx JPM, Engelsman AF
Affiliated Institution / ERN:
University Medical Center Groningen ; Institute of Oncology “Prof dr. Ion Chiricuta” CLUJ NAPOCA ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Thyroid® v34.11 p1324-1334
Year:
2024
ORPHAcode / other:
ORPHA146
DOI:
10.1089/thy.2024.0271
Keywords:
definition,differentiated thyroid carcinoma,persistent disease,recurrence
Considerations for the design and conduct of pediatric obesity pharmacotherapy clinical trials: Proceedings of expert roundtable meetings
Author(s):
Kelly AS, Bahlke M, Baker JL, de Beaufort C, Belin RM, Fonseca H, Hale PM, Holm J, Hsia DS, Jastreboff AM, Juliusson PB, Murphy M, Pak J, Paul E, Rudolph B, Srivastava G, Tornøe CW, Weghuber D, Fox CK
Affiliated Institution / ERN:
Centre Hospitalier de Luxembourg ; Copenhagen University Hospital, Rigshospitalet ; Bergen Hospital Trust ;
Condition / Disease:
Melanocortin 4 receptor deficiency
Publication:
Pediatric Obesity v19.11
Year:
2024
ORPHAcode / other:
ORPHA71529
DOI:
10.1111/ijpo.13161
Keywords:
anti‐obesity medication,clinical trials,obesity,pediatric,pharmacotherapy
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene
Author(s):
Vimercati A, Tannorella P, Guzzetti S, Calzari L, Gentilini D, Manfredini E, Gori G, Gaudino R, Antona V, Piccione M, Daolio C, Auricchio R, Sirchia F, Minelli A, Rossi E, Bellini M, Biasucci G, Raucci AR, Pozzobon G, Patti G, Napoli F, Larizza L, Maghnie M, Russo S
Affiliated Institution / ERN:
AOUI Verona ; IRCCS Auxologico Italian Institute - Milan ; IRCCS Istituto Giannina Gaslini, Genova ; Meyer Children’s Hospital Florence ;
Condition / Disease:
Silver-Russell Syndrome
Publication:
The Journal of Clinical Endocrinology & Metabolism doi:10.1210/clinem/dgae730
Year:
2024
ORPHAcode / other:
ORPHA813
DOI:
10.1210/clinem/dgae730
Keywords:
IGF1R,IGF2-PLAG1-HMGA2 axis,(epi)genetic phenotype,Silver-Russell syndrome,body asymmetry,familial cases
Areas of uncertainty on the diagnosis, treatment, and follow-up of hypophosphatemia in adults: an Italian Delphi consensus
Author(s):
Chiodini I, d’Angela D, Falchetti A, Gennari L, Malavolta N, Masi L, Migliore A, Orso M, Polistena B, Rendina D, Scillitani A, Spandonaro F, Vezzoli G, Vescini F, Ambrosio MR, Cairoli E, Camozzi V, Cannavò S, Eller-Vainicher C, Gianninir S, Gianotti L, Giusti A, Merlotti D, Migliaccio S, Minisola S, Montinaro V, Palermo A, Pasquali D, Passeri G, Procopio M, Salcuni AS
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ; San Raffaele hospital - Milan ;
Condition / Disease:
X-linked hypophosphataemia
Publication:
Journal of Endocrinological Investigation v48.2 p257-267
Year:
2024
ORPHAcode / other:
ORPHA89936
Short-Term Changes in Bone Metabolism Among Transgender Men Starting Gender-Affirming Hormone Therapy: A Systematic Review and Meta-analysis
Author(s):
Tienforti D, Marinelli L, Vervalcke J, Spagnolo L, Antolini F, Bichiri A, Baroni MG, Motta G, T’Sjoen G, Barbonetti A
Affiliated Institution / ERN:
Ghent University Hospital ; AO City of Health and Science - Turin ;
Condition / Disease:
Transgender, female to male
Publication:
Calcified Tissue International v115.5 p624-635
Year:
2024
ORPHAcode / other:
ICD-10 F64
DOI:
10.1007/s00223-024-01296-z
Keywords:
BMD,Bone turnover markers,GAHT,Gender incongruence,Testosterone,Transmen
