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/ Publications Overview / Publications Database

Endo-ERN Publications Database

RDD IssuesBack to Publications Overview

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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
MTG1

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
MTG7

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
MTG6

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
DOI: 10.1007/s12020-025-04162-6 Keywords:
MTG6

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
MTG6

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
MTG7

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
MTG7

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
MTG7

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
MTG4

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
MTG6

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
MTG3

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
MTG6 MTG7

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
MTG3

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
DOI: 10.1227/neu.0000000000003281 Keywords:
MTG6

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
MTG3

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
DOI: 10.1159/000542904 Keywords:
MTG7

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
MTG6

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
MTG1

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
MTG6

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
MTG7

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
MTG6

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
DOI: 10.1210/clinem/dgae780 Keywords: congenital adrenal hyperplasia,population-based,psychiatry
MTG7

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
DOI: 10.1159/000541775 Keywords:
MTG7

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
MTG6

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
MTG6

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
MTG8

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
MTG6

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
MTG5

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
DOI: 10.1007/s40618-024-02458-4 Keywords:
MTG2

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
MTG7
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