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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
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    • MTG5Growth & Genetic Obesity Syndromes
    • MTG6Hypothalamic and Pituitary Conditions
    • MTG7Sex Development & Maturation
    • MTG8Thyroid
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/ Publications Overview / Publications Database

Endo-ERN Publications Database

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Filter list of publications

940 publication(s) found matching the search criteria

One step closer to the end of postoperative radioactive iodine thyroid remnant ablation


Author(s): Verburg FA, de Keizer B
Affiliated Institution / ERN: University Medical Center Utrecht ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease: Differentiated thyroid carcinoma
Publication: The Lancet Diabetes & Endocrinology v13.1 p5-6 Year: 2025 ORPHAcode / other: ORPHA146
DOI: 10.1016/S2213-8587(24)00306-1 Keywords:
MTG8

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

Fluorescence detection of pituitary neuroendocrine tumour during endoscopic transsphenoidal surgery using bevacizumab-800CW: a non-randomised, non-blinded, single centre feasibility and dose finding trial [DEPARTURE trial]


Author(s): Schmidt I, Vergeer RA, Postma MR, van den Berg G, Sterkenburg AJ, Korsten-Meijer AGW, Feijen RA, Kruijff S, van Beek AP, den Dunnen WFA, Robinson DJ, van Dijk JMC, Nagengast WB, Kuijlen JMA
Affiliated Institution / ERN: University Medical Center Groningen ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease: Pituitary adenoma
Publication: European Journal of Nuclear Medicine and Molecular Imaging v52.2 p660-668 Year: 2025 ORPHAcode / other: ORPHA99408
DOI: 10.1007/s00259-024-06947-9 Keywords: Bevacizumab,Pituitary neuroendocrine tumor,Quantitative fluorescence molecular endoscopy,Transsfenoidal surgery
MTG6

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

Hypoparathyroidism in adults with iron overload diseases (IOD): evidence of a subclinical phenotype


Author(s): De Vincentis S, Evangelisti S, Rossi B, Decaroli MC, Locaso M, Ansaloni A, Ferrara F, Corradini E, Pietrangelo A, Rochira V
Affiliated Institution / ERN: AOU - Modena ; ERN BOND ; ERN BOND ;
Condition / Disease: Hypoparathyroidism
Publication: Endocrine v87.3 p1257-1266 Year: 2024 ORPHAcode / other: ORPHA181405
DOI: 10.1007/s12020-024-04124-4 Keywords: Calcium/phosphorous ratio,Hemochromatosis,Hyperphosphatemia,Hypocalcemia,Parathyroid,Thalassemia
MTG2 MTG8

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

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

Modern approach to bone comorbidity in prolactinoma


Author(s): Uygur MM, Menotti S, Santoro S, Giustina A
Affiliated Institution / ERN: San Raffaele hospital - Milan ;
Condition / Disease: Prolactinoma
Publication: Pituitary v27.6 p802-812 Year: 2024 ORPHAcode / other: ORPHA2965
DOI: 10.1007/s11102-024-01469-x Keywords: Bone mineral density,Bone quality,Dopamine agonist,Hypogonadism,PTCOEs,Prolactinoma,Vertebral fractures
MTG6

TSH-secreting pituitary adenomas and bone


Author(s): Losa M, Vassallo A, Frara S, Mortini P, Giustina A
Affiliated Institution / ERN: San Raffaele hospital - Milan ;
Condition / Disease: Pituitary adenoma
Publication: Pituitary v27.6 p752-760 Year: 2024 ORPHAcode / other: ORPHA99408
DOI: 10.1007/s11102-024-01467-z Keywords: Hyperthyroidism,Osteoporosis,Pituitary adenoma,Somatostatin receptor ligands,TSH,Thyroxine,Triiodothyronine,Vertebral fractures
MTG6

Long COVID and pituitary dysfunctions: a bidirectional relationship?


Author(s): di Filippo L, Franzese V, Santoro S, Doga M, Giustina A
Affiliated Institution / ERN: San Raffaele hospital - Milan ;
Condition / Disease: Pituitary adenoma
Publication: Pituitary v27.6 p955-969 Year: 2024 ORPHAcode / other: ORPHA99408
DOI: 10.1007/s11102-024-01442-8 Keywords: Adrenal insufficiency,COVID-19,Growth hormone deficiency,Hypogonadism,Hypopituitarism,Long COVID,Pituitary,SARS-CoV-2
MTG6

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

Wolfram Syndrome: Only a Neurodegenerative Disease or Also a Maculopathy?


Author(s): Tombolini B, Battista M, Borrelli E, Frontino G, Bandello F, Barboni P, Cascavilla ML
Affiliated Institution / ERN: San Raffaele hospital - Milan ;
Condition / Disease: Wolfram syndrome
Publication: Journal of Neuro-Ophthalmology v44.4 pe544-e546 Year: 2024 ORPHAcode / other: ORPHA3463
DOI: 10.1097/WNO.0000000000001981 Keywords:
MTG3

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

Clinical characteristics, treatment, and treatment switch after molecular‐genetic classification in individuals with maturity‐onset diabetes of the young: Insights from the multicenter real‐world DPV registry


Author(s): Lanzinger S, Laubner K, Warncke K, Mader JK, Kummer S, Boettcher C, Biester T, Galler A, Klose D, Holl RW
Affiliated Institution / ERN: Hannoversche Kinderheilanstalt ;
Condition / Disease: Diabetes mellitus
Publication: Journal of Diabetes v16.11 Year: 2024 ORPHAcode / other: ORPHA101952
DOI: 10.1111/1753-0407.70028 Keywords: MODY,diabetes prospective follow‐up (DPV) registry,monogenic diabetes,oral antidiabetic drugs,real‐world data
MTG3

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

Long term outcomes of pituitary adenomas in Multiple Endocrine Neoplasia type 1: a nationwide study


Author(s): Valdés N, Romero A, Diego E, Calatayud M, Lamas C, Araujo-Castro M, Álvarez-Escolá C, Díaz JA, Alcázar V, Sastre J, Martínez R, Oriola J, Paja M, Sánchez-Sobrino P, Salinas I, Recio-Córdova JM, Navarro E, Chiara MD, Castaño L, Casterás A
Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ; Hospital Universitario Cruces ;
Condition / Disease: Multiple endocrine neoplasia type 1
Publication: Frontiers in Endocrinology v15 Year: 2024 ORPHAcode / other: ORPHA652
DOI: 10.3389/fendo.2024.1427821 Keywords: Multiple Endocrine Neoplasia type 1,macroadenomas,microadenomas,non-functioning pituitary adenomas,outcomes,pituitary adenomas,progression,prolactinomas
MTG4 MTG6
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