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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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    Endo-ERN is a network of 100+ Reference Centres (RCs) in 27 EU member states+Norway that offers access to clinical experts for patients with rare endocrine conditions.  

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Endo ERN
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/ Publications Overview / Publications Database

Endo-ERN Publications Database

RDD IssuesBack to Publications Overview

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890 publication(s) found matching the search criteria

Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation


Author(s): Panfili E, Mondanelli G, Orabona C, Belladonna ML, Gargaro M, Fallarino F, Orecchini E, Prontera P, Proietti E, Frontino G, Tirelli E, Iacono A, Vacca C, Puccetti P, Grohmann U, Esposito S, Pallotta MT
Affiliated Institution / ERN: San Raffaele hospital - Milan ;
Condition / Disease: Wolfram syndrome
Publication: Human Molecular Genetics v30.3-4 p265-276 Year: 2021 ORPHAcode / other: ORPHA3463
DOI: 10.1093/hmg/ddab040 Keywords:
MTG6

Obesity in Prader–Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches


Author(s): Muscogiuri G, Barrea L, Faggiano F, Maiorino MI, Parrillo M, Pugliese G, Ruggeri RM, Scarano E, Savastano S, Colao A
Affiliated Institution / ERN: AOU Federico II - Naples ; AOU University of Campania "Luigi Vanvitelli", Naples ; AOU polyclinic "G.Martino" of Messina ;
Condition / Disease: Prader-Willi syndrome
Publication: Journal of Endocrinological Investigation v44.10 p2057-2070 Year: 2021 ORPHAcode / other: ORPHA739
DOI: 10.1007/s40618-021-01574-9 Keywords: Diabetes mellitus,Hyperphagia,Obesity,Prader–Willi syndrome
MTG5

Approach to the Virilizing Girl at Puberty


Author(s): Santi M, Graf S, Zeino M, Cools M, Van De Vijver K, Trippel M, Aliu N, Flück CE
Affiliated Institution / ERN:
Condition / Disease: 46,XX DSD
Publication: The Journal of Clinical Endocrinology & Metabolism v106.5 p1530-1539 Year: 2021 ORPHAcode / other: ORPHA2928
DOI: 10.1210/clinem/dgaa948 Keywords: androgen excess,disorders/differences of sex development (DSD),endocrine active tumors,genetic disorders of androgen excess,virilization
MTG7

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network


Author(s): Eggermann T, Davies JH, Tauber M, van den Akker E, Hokken-Koelega A, Johansson G, Netchine I
Affiliated Institution / ERN: University Hospital Aachen ; CHU de Toulouse ; Erasmus MC: University Medical Center Rotterdam ; Sahlgrenska University Hospital ;
Condition / Disease: Imprinting disorders and growth disturbance
Publication: Genes v12.4 p585 Year: 2021 ORPHAcode / other: ORPHA739, ORPHA813, ORPHA254516, ORPHA94089
DOI: 10.3390/genes12040585 Keywords: Prader-Willi syndrome,Silver-Russell syndrome,differentially methylated regions,growth restriction,imprinted gene network,imprinting disorders,overgrowth,pseudoparahypoparathyreoidism,temple syndrome,transient neonatal diabetes
MTG5

High Prevalence of Weight Gain in Childhood Brain Tumor Survivors and Its Association With Hypothalamic-Pituitary Dysfunction


Author(s): van Schaik J, van Roessel IMAA, Schouten-van Meeteren NAYN, van Iersel L, Clement SC, Boot AM, Claahsen-van der Grinten HL, Fiocco M, Janssens GO, van Vuurden DG, Michiels EM, Han SKS, van Trotsenburg PASP, Vandertop PWP, Kremer LCM, van Santen HM
Affiliated Institution / ERN: University Medical Center Utrecht ; Amsterdam UMC ; University Medical Center Groningen ; Radboud University Medical Centre Nijmegen ; Leiden University Medical Center ;
Condition / Disease: Hypothalamic-Pituitary Dysfunction
Publication: Journal of Clinical Oncology v39.11 p1264-1273 Year: 2021 ORPHAcode / other: ORPHA95503, ORPHA54595, ORPHA99408
DOI: 10.1200/JCO.20.01765 Keywords:
MTG6

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry


Author(s): Bacila I, Freeman N, Daniel E, Sandrk M, Bryce J, Ali SR, Yavas Abali Z, Atapattu N, Bachega TA, Balsamo A, Birkebæk N, Blankenstein O, Bonfig W, Cools M, Costa EC, Darendeliler F, Einaudi S, Elsedfy HH, Finken M, Gevers E, Claahsen-van der Grinten HL, Guran T, Güven A, Hannema SE, Higham CE, Iotova V, van der Kamp HJ, Korbonits M, Krone RE, Lichiardopol C, Luczay A, Mendonca BB, Milenkovic T, Miranda MC, Mohnike K, Neumann U, Ortolano R, Poyrazoglu S, Thankamony A, Tomlinson JW, Vieites A, de Vries L, Ahmed SF, Ross RJ, Krone NP
Affiliated Institution / ERN: AO City of Health and Science - Turin ; Aarhus University Hospital ; Leiden University Medical Center ; Beaumont & CHI - Dublin ; Klinikum Wels Grieskirchen ; AOU-Bologna ; Charité Universitätsmedizin Berlin ; Klinikum der Universität München ; Ghent University Hospital ; Amsterdam UMC ; Radboud University Medical Centre Nijmegen ; Erasmus MC: University Medical Center Rotterdam ; UMHAT “Sveta Marina” (Varna) ; University Medical Center Utrecht ; Universitätsklinikum Magdeburg ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: European Journal of Endocrinology v184.4 p553-563 Year: 2021 ORPHAcode / other: ORPHA418
DOI: 10.1530/EJE-20-1249 Keywords:
MTG7

Growth and development of islet autoimmunity and type 1 diabetes in children genetically at risk


Author(s): Nucci AM, Virtanen SM, Cuthbertson D, Ludvigsson J, Einberg U, Huot C, Castano L, Aschemeier B, Becker DJ, Knip M, Krischer JP, Mandrup-Poulsen T, Arjas E, Läärä E, Lernmark Ã, Schmidt B, Krischer JP, Åkerblom HK, Hyytinen M, Knip M, Koski K, Koski M, Pajakkala E, Salonen M, Cuthbertson D, Krischer JP, Shanker L, Bradley B, Dosch H, Dupré J, Fraser W, Lawson M, Mahon JL, Sermer M, Taback SP, Becker D, Franciscus M, Nucci A, Palmer J, Virtanen SM, Catteau J, Howard N, Crock P, Craig M, Clarson CL, Bere L, Thompson D, Metzger D, Marshall C, Kwan J, Stephure DK, Pacaud D, Schwarz W, Girgis R, Thompson M, Taback SP, Catte D, Lawson ML, Bradley B, Daneman D, Sermer M, Martin M, Morin V, Frenette L, Ferland S, Sanderson S, Heath K, Huot C, Gonthier M, Thibeault M, Legault L, Laforte D, Cummings EA, Scott K, Bridger T, Crummell C, Houlden R, Breen A, Carson G, Kelly S, Sankaran K, Penner M, White RA, King N, Popkin J, Robson L, Al Taji E, Mendlova P, Romanova M, Vavrinec J, Vosahlo J, Brazdova L, Venhacova J, Venhacova P, Cipra A, Tomsikova Z, Paterová P, Gogelova P, Einberg Ã, Riikjärv M, Ormisson A, Tillmann V, Johansson S, Kleemola P, Parkkola A, Järvenpää A, Hämäläinen A, Kiiveri S, Salonen M, Tenhola S, Salonen P, Jason E, Selvenius J, Siljander H, Ylitalo S, Paajanen I, Talvitie T, Lindström K, Huopio H, Pesola J, Veijola R, Tapanainen P, Alar A, Popov E, Virransalo R, Nykänen P, Aschemeier B, Danne T, Kordonouri O, Krikovszky D, Madácsy L, Khazrai YM, Maddaloni E, Pozzilli P, Mannu C, Songini M, de Beaufort C, Schierloh U, Bruining J, Bisschoff M, Basiak A, Wasikowa R, Ciechanowska M, Deja G, Jarosz-Chobot P, Szadkowska A, Cypryk K, Zawodniak-Szalapska M, Castano L, Frutos TG, Oyarzabal M, Serrano-Ríos M, Martínez-Larrad MT, Hawkins FG, Arnau DR, Ludvigsson J, Konefal MS, Hanas R, Lindblad B, Nilsson N, Fors H, Nordwall M, Lindh A, Edenwall H, Åman J, Johansson C, Gadient M, Konrad D, Schoenle E, Becker D, Daftary A, Klein MB, Gilmour C, Palmer J, Malone P, Tanner-Blasiar M, White N, Devaskar U, Horowitz H, Rogers L, Colon R, Frazer T, Torres J, Goland R, Greenberg E, Schachner H, Softness B, Ilonen J, Trucco M, Nichol L, Savilahti E, Härkönen T, Knip M, Vaarala O, Luopajärvi K, Dosch H
Affiliated Institution / ERN:
Condition / Disease: Type 1 Diabetes Mellitus
Publication: Diabetologia v64.4 p826-835 Year: 2021 ORPHAcode / other: 5A10
DOI: 10.1007/s00125-020-05358-3 Keywords: Beta cell autoimmunity,Childhood growth,Genetic risk,Length,Type 1 diabetes,Weight
MTG3

Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy


Author(s): Bonfanti R, Iafusco D, Rabbone I, Diedenhofen G, Bizzarri C, Patera PI, Reinstadler P, Costantino F, Calcaterra V, Iughetti L, Savastio S, Favia A, Cardella F, Lo Presti D, Girtler Y, Rabbiosi S, D’Annunzio G, Zanfardino A, Piscopo A, Casaburo F, Pintomalli L, Russo L, Grasso V, Minuto N, Mucciolo M, Novelli A, Marucci A, Piccini B, Toni S, Silvestri F, Carrera P, Rigamonti A, Frontino G, Trada M, Tinti D, Delvecchio M, Rapini N, Schiaffini R, Mammì C, Barbetti F, _ _, _ _, Aloe M, Amadeo S, Arnaldi C, Bassi M, Beccaria L, Benelli M, Maria Berioloi G, Bertelli E, Biagioni M, Bobbio A, Boccato S, Bologna O, Bontempi F, Bonura C, Bracciolini G, Brufani C, Bruzzi P, Buono P, Calcaterra V, Cardani R, Cardinale G, Casertano A, Cristina Castiglione M, Cauvin V, Cherubini V, Chiarelli F, Chiari G, Cianfarani S, Cirillo D, Citriniti F, Coccioli S, Cogliardi A, Confetto S, Contreas G, Corò A, Corsini E, Cresta N, De Berardinis F, De Donno V, De Filippo G, De Marco R, Deodati A, Faleschini E, Fattorusso V, Favalli V, Felappi B, Ferrito L, Fichera G, Fontana F, Fornari E, Franceschi R, Franco F, Franzese A, Paola Frongia A, Gaiero A, Gallo F, Gargantini L, Giani E, Giorgetti C, Bianchi G, Graziani V, Gualtieri A, Guasti M, Iannicelli G, Iannilli A, Giovanna I, Ingletto D, Innaurato S, Inzaghi E, Iovane B, Kaufmann P, La Loggia A, Lapolla R, Lasagni A, Lazzaro N, Lenzi L, Lera R, Levantini G, Lombardo F, Lonero A, Longhi S, Lucchesi S, Paola Guerraggio L, Lucieri S, Macellaro P, Maffeis C, Mainetti B, Maltoni G, Mameli C, Mammì F, Luisa Manca-Bitti M, Manco M, Marino M, Mariano M, Marigliano M, Marsciani A, Mastrangelo C, Cristina Matteoli M, Mazzali E, Meschi F, MIgliaccio A, Morandi A, Morganti G, Mozzillo E, Musolino G, Nugnes R, Ortolani F, Pardi D, Pascarella F, Passanisi S, Pedini A, Pennati C, Perrotta A, Peruzzi S, Peverelli P, Pezzino G, Claudia Piona A, Piredda G, Pistone C, Prandi E, Pedieri B, Di Bonito P, Pulcina A, Quinci M, Randazzo E, Ricciardi R, Ripoli C, Roppolo R, Rutigliano I, Sabbio A, salardi S, Salvatoni A, Saporiti A, Sardi R, Scanu M, Scaramuzza A, Eleonardo Schiven,, Secco A, Sessa L, Sogno Valin P, Sordelli S, Spallino L, Stagi S, Stamati F, Suprani T, Talarico V, Timapanaro T, Tirendi A, Tomaselli L, Tornese G, Andrea Trettene A, Tumini S, Valerio G, Ventrici C, Viscardi M, Zaffani S, Zampolli M, Zanette G, Zecchino C, Antonietta Zedda M, Zonca S, Zucchini S
Affiliated Institution / ERN: San Raffaele hospital - Milan ; AOU University of Campania "Luigi Vanvitelli", Naples ; AO City of Health and Science - Turin ; AOU - Modena ; IRCCS Istituto Giannina Gaslini, Genova ; Meyer Children’s Hospital Florence ;
Condition / Disease: Neonatal diabetes mellitus
Publication: European Journal of Endocrinology v184.4 p575-585 Year: 2021 ORPHAcode / other: ORPHA224
DOI: 10.1530/EJE-20-1030 Keywords:
MTG3

Prognosis after surgery for multiple endocrine neoplasia type 1-related pancreatic neuroendocrine tumors: Functionality matters


Author(s): van Beek D, Nell S, Verkooijen HM, Borel Rinkes IH, Valk GD, Vriens MR, Goudet P, Santucci N, Bartsch DK, Manoharan J, Perrier ND, Zagzag J, Brandi ML, Giusti F, Nilubol N, Brunaud L, Pasternak JD, Hsiao R, Sturgeon C, Giri S, Conemans EB, Brosens LA, Bonsing BA, van Eijck CH, van Goor H, de Kleine RH, Nieveen van Dijkum EJ, Kazemier G, Dejong CH
Affiliated Institution / ERN:
Condition / Disease: Multiple endocrine neoplasia type 1
Publication: Surgery v169.4 p963-973 Year: 2021 ORPHAcode / other: ORPHA652
DOI: 10.1016/j.surg.2020.09.037 Keywords:
MTG4

Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction


Author(s): Tauber M, Hoybye C
Affiliated Institution / ERN: CHU de Toulouse ;
Condition / Disease: Prader-Willi syndrome
Publication: The Lancet Diabetes & Endocrinology v9.4 p235-246 Year: 2021 ORPHAcode / other: ORPHA739
DOI: 10.1016/S2213-8587(21)00002-4 Keywords:
MTG5

Generation and Differentiation of Adult Tissue-Derived Human Thyroid Organoids


Author(s): Ogundipe VM, Groen AH, Hosper N, Nagle PW, Hess J, Faber H, Jellema AL, Baanstra M, Links TP, Unger K, Plukker JT, Coppes RP
Affiliated Institution / ERN: Klinikum der Universität München ; University Medical Center Groningen ;
Condition / Disease: Thyroid regeneration
Publication: Stem Cell Reports v16.4 p913-925 Year: 2021 ORPHAcode / other:
DOI: 10.1016/j.stemcr.2021.02.011 Keywords: hypothyroidism,regeneration,stem cells,thyroglobulin,thyroid cancer,thyroid-tissue-derived organoids,xeno-transplanation
MTG8

HOMA-IR in acromegaly: a systematic review and meta-analysis


Author(s): Biagetti B, Aulinas A, Casteras A, Pérez-Hoyos S, Simó R
Affiliated Institution / ERN: Hospital Universitari Vall d’Hebron ; Hospital de la Santa Creu i Sant Pau ;
Condition / Disease: Acromegaly
Publication: Pituitary v24.2 p146-158 Year: 2021 ORPHAcode / other: ORPHA963
DOI: 10.1007/s11102-020-01092-6 Keywords: Acromegaly,Diabetes mellitus,HOMA,Insulin resistance,Meta-analysis
MTG6

SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis


Author(s): Lambert S, Peycelon M, Samara‐Boustani D, Hyon C, Dumeige L, Peuchmaur M, Fiot E, Léger J, Simon D, Paye‐Jaouen A, Bouligand J, Siffroi J, Carel J, McElreavey K, El Ghoneimi A, Brachet C, Bouvattier C, Martinerie L
Affiliated Institution / ERN: Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; University Hospital Liège ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Hôpital Bicêtre ;
Condition / Disease: Ovotesticular DSD
Publication: Clinical Endocrinology v94.4 p667-676 Year: 2021 ORPHAcode / other: ORPHA2138
DOI: 10.1111/cen.14389 Keywords: 46,XX-SRY-negative DSD,GnRH analog,minipuberty,ovotesticular DSD,testicular DSD
MTG7

Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO


Author(s): Ziegler A, Denommé‐Pichon A, Boucher S, Bouzamondo N, Colin E, Dieu X, Jean Yves T, Bouhours N, Rouleau S, Coutant R, Rodien P, Prunier D, Bonneau D
Affiliated Institution / ERN: CHU d'Angers ;
Condition / Disease: Congenital hypothyroidism
Publication: Clinical Genetics v99.4 p604-606 Year: 2021 ORPHAcode / other: ORPHA442
DOI: 10.1111/cge.13902 Keywords:
MTG8

Somatostatin Analogs for Pancreatic Neuroendocrine Tumors: Any Benefit When Ki-67 Is ≥10%?


Author(s): Merola E, Alonso Gordoa T, Zhang P, Al-Toubah T, Pellè E, Kolasińska-Ćwikła A, Zandee W, Laskaratos F, Mestier L, Lamarca A, Hernando J, Cwikla J, Strosberg J, Herder W, Caplin M, Cives M, Leeuwaarde R
Affiliated Institution / ERN: ERN BOND ;
Condition / Disease: Pancreatic neuroendocrine neoplasms
Publication: The Oncologist v26.4 p294-301 Year: 2021 ORPHAcode / other: ORPHA97253
DOI: 10.1002/onco.13633 Keywords: G2,G3,Hepatic tumor load,Lanreotide,Octreotide,Pancreatic neuroendocrine tumor

Targeted Metabolomics as a Tool in Discriminating Endocrine From Primary Hypertension


Author(s): Erlic Z, Reel P, Reel S, Amar L, Pecori A, Larsen CK, Tetti M, Pamporaki C, Prehn C, Adamski J, Prejbisz A, Ceccato F, Scaroni C, Kroiss M, Dennedy MC, Deinum J, Langton K, Mulatero P, Reincke M, Lenzini L, Gimenez-Roqueplo A, Assié G, Blanchard A, Zennaro MC, Jefferson E, Beuschlein F
Affiliated Institution / ERN:
Condition / Disease: Pheochromocytoma and paraganglioma, Cushing syndrome, Primary aldosteronism
Publication: The Journal of Clinical Endocrinology & Metabolism v106.4 pe1111-e1128 Year: 2021 ORPHAcode / other: ORPHA573163, ORPHA553, ORPHA181415
DOI: 10.1210/clinem/dgaa954 Keywords: Cushing syndrome,arterial hypertension,pheochromocytoma,primary aldosteronism,screening,targeted metabolomics
MTG1 MTG4

Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations


Author(s): Casar-Borota O, Boldt H, Engström B, Andersen MS, Baussart B, Bengtsson D, Berinder K, Ekman B, Feldt-Rasmussen U, Höybye C, Jørgensen JOL, Kolnes AJ, Korbonits M, Rasmussen ÃK, Lindsay JR, Loughrey PB, Maiter D, Manojlovic-Gacic E, Pahnke J, Poliani PL, Popovic V, Ragnarsson O, Schalin-Jäntti C, Scheie D, Tóth M, Villa C, Wirenfeldt M, Kunicki J, Burman P
Affiliated Institution / ERN: Karolinska University Hospital ; Copenhagen University Hospital, Rigshospitalet ; Aarhus University Hospital ; Oslo University Hospital ; University Hospitals Saint-Luc ; Universitätsklinikum Schleswig-Holstein ; Sahlgrenska University Hospital ; Helsinki University Hospital (HUS) ; Semmelweis University ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; University Hospital Liège ; Maria Sklodowska-Curie National Research Institute of Oncology (MSCNRIO) ;
Condition / Disease: Cushing disease
Publication: The Journal of Clinical Endocrinology & Metabolism v106.4 pe1183-e1194 Year: 2021 ORPHAcode / other: ORPHA96253
DOI: 10.1210/clinem/dgaa749 Keywords: ATRX (alpha thalassemia/mental retardation syndrome X-linked),Cushing’s disease,aggressive PitNETs,pituitary adenoma,pituitary carcinoma
MTG6

Distant Metastases From Childhood Differentiated Thyroid Carcinoma: Clinical Course and Mutational Landscape


Author(s): Nies M, Vassilopoulou-Sellin R, Bassett RL, Yedururi S, Zafereo ME, Cabanillas ME, Sherman SI, Links TP, Waguespack SG
Affiliated Institution / ERN: University Hospital Essen ;
Condition / Disease: Follicular thyroid carcinoma
Publication: The Journal of Clinical Endocrinology & Metabolism v106.4 p1683-1697 Year: 2021 ORPHAcode / other: ORPHA146
DOI: 10.1210/clinem/dgaa935 Keywords: fusion gene,lung metastasis,pediatric thyroid cancer,prognosis,somatic mutation,stage II
MTG8

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium


Author(s): Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux J, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J
Affiliated Institution / ERN: UZ Leuven ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Ghent University Hospital ; University Hospitals Saint-Luc ; University Hospital Liège ;
Condition / Disease: X-linked hypophosphataemia
Publication: Frontiers in Endocrinology v12 Year: 2021 ORPHAcode / other: ORPHA89936
DOI: 10.3389/fendo.2021.641543 Keywords: X-linked hypophosphatemia,burosumab,fibroblast growth factor 23 (FGF23),osteomalacia,rickets,vitamin D
MTG2

Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease


Author(s): Hokken-Koelega A, Reincke M
Affiliated Institution / ERN:
Condition / Disease:
Publication: Endocrine 2021(2) Year: 2021 ORPHAcode / other:
DOI: 10.1007/s12020-021-02652-x Keywords:

European Reference Networks: challenges and opportunities


Author(s): Birute Tumiene, Holm Graessner, Irene MJ Mathijssen, Alberto M Pereira, Franz Schaefer, Maurizio Scarpa, Jean-Yves Blay, Helene Dollfus & Nicoline Hoogerbrugge
Affiliated Institution / ERN:
Condition / Disease:
Publication: Journal of Community Genetics 2021 Year: 2021 ORPHAcode / other:
DOI: Keywords:

Multiple Endocrine Neoplasia Type 1: Latest Insights


Author(s): Brandi ML, Agarwal SK, Perrier ND, Lines KE, Valk GD, Thakker RV
Affiliated Institution / ERN:
Condition / Disease: Multiple endocrine neoplasia type 1
Publication: Endocrine Reviews v42.2 p133-170 Year: 2021 ORPHAcode / other: ORPHA652
DOI: 10.1210/endrev/bnaa031 Keywords: MEN1,epigenetics,menin,mouse models,mutation-negative,neuroendocrine tumors,pharmacological therapies,phenocopy,quality of life,surgical approaches
MTG4

Disease and Treatment-Related Burden in Patients With Acromegaly Who Are Biochemically Controlled on Injectable Somatostatin Receptor Ligands


Author(s): Fleseriu M, Molitch M, Dreval A, Biermasz NR, Gordon MB, Crosby RD, Ludlam WH, Haviv A, Gilgun-Sherki Y, Mathias SD
Affiliated Institution / ERN: Leiden University Medical Center ;
Condition / Disease: Acromegaly
Publication: Frontiers in Endocrinology v12 Year: 2021 ORPHAcode / other: ORPHA963
DOI: 10.3389/fendo.2021.627711 Keywords: Acro-TSQ,acromegaly,burden,patient-reported outcome,quality of life,somatostatin receptor ligands
MTG6

Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology


Author(s): Paul van Trotsenburg, Athanasia Stoupa, Juliane Léger, Tilman Rohrer, Catherine Peters, Laura Fugazzola, Alessandra Cassio, Claudine Heinrichs, Veronique Beauloye, Joachim Pohlenz, Patrice Rodien, Regis Coutant, Gabor Szinnai, Philip Murray, Beate Bartés, Dominique Luton, Mariacarolina Salerno, Luisa de Sanctis, Mariacristina Vigone, Heiko Krude, Luca Persani, and Michel Polak
Affiliated Institution / ERN:
Condition / Disease: Congenital Hypothyroidism
Publication: Mary Ann Liebert, Inc ThyroidVol. 31, No. 3 Year: 2021 ORPHAcode / other: ORPHA442
DOI: 10.1089/thy.2020.0333 Keywords:
MTG8

Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings


Author(s): Naafs JC, Marchal JP, Fliers E, Verkerk PH, Luijten MAJ, Boelen A, van Trotsenburg ASP, Zwaveling-Soonawala N
Affiliated Institution / ERN:
Condition / Disease: Central congenital hypothyroidism
Publication: The Journal of Clinical Endocrinology & Metabolism v106.3 pe1231-e1239 Year: 2021 ORPHAcode / other: ORPHA226298
DOI: 10.1210/clinem/dgaa901 Keywords: IQ,central hypothyroidism,cognitive outcome,congenital hypopituitarism,congenital hypothyroidism,neonatal screening
MTG8

Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort


Author(s): Capalbo D, Moracas C, Cappa M, Balsamo A, Maghnie M, Wasniewska MG, Greggio NA, Baronio F, Bizzarri C, Ferro G, Di Lascio A, Stancampiano MR, Azzolini S, Patti G, Longhi S, Valenzise M, Radetti G, Betterle C, Russo G, Salerno M
Affiliated Institution / ERN: National Institute of Children's Diseases ; Public Pediatric Teaching Hospital ; Semmelweis University ; Medical University of Vienna,Center for Disorders of Sex Development / Dpt. of Pediatrics ; AOU Federico II - Naples ; IRCCS Istituto Giannina Gaslini, Genova ; IRCCS Ospedale Policlinico San Martino – Genova ; AOU polyclinic "G.Martino" of Messina ; University Hospital of Padova ; San Raffaele hospital - Milan ;
Condition / Disease: Primary adrenal insufficiency
Publication: The Journal of Clinical Endocrinology & Metabolism v106.3 p762-773 Year: 2021 ORPHAcode / other: ORPHA101958
DOI: 10.1210/clinem/dgaa881 Keywords: Addison’s disease,Primary adrenal insufficiency,adrenal crisis,adult height
MTG1

Targeted use of intraoperative frozen-section analysis lowers the frequency of completion thyroidectomy


Author(s): Staubitz JI, Elmrich I, Musholt PB, Cámara RJA, Watzka F, Dralle H, Sekulla C, Lorenz K, Musholt TJ, Vorländer C, Lorenz K, Blankenburg C, Geffcken C, Steinmüller T, Trupka A, Steinert F, Schabram J, Albrecht L, Marschall C, Orlitsch C, Holzner K, Feller J, Weber T, Kaltofen D, Simon D, Kube R, Schultz K, Sahm M, Obermeier J, Roth C, Janson K, Thomusch O, Meier H, Weinhold A, Müller N, Tonndorf G, Sinn D, Klein E, Henke G, Rampf W, Rendel K, Cupisti K, Holzer K, Grothe D, Axt L, Müller I, Probst W, Guhr C, Schischke F, Schwörig T, Konrad Hospital M, Fielitz J, Stets R, Liese M, Weiss CL, Zaage J, Bräuer T, Weitz J, Huster A, Kidess E, Lautermann J, Kizilirmak N, Jannasch O, Bittscheidt H, Lehmann D, Kröll KP, Musholt TJ, Sonsnowska C, Lorenc Z, Dudesek B, Smutny S, Brauckhoff M, Bareck E, Köberle-Wührer R
Affiliated Institution / ERN: Bergen Hospital Trust ;
Condition / Disease: Thyroid carcinoma
Publication: BJS Open v5.2 Year: 2021 ORPHAcode / other: ORPHA100088
DOI: 10.1093/bjsopen/zraa058 Keywords:
MTG8

New genetics in congenital hypothyroidism


Author(s): Stoupa A, Kariyawasam D, Muzza M, de Filippis T, Fugazzola L, Polak M, Persani L, Carré A
Affiliated Institution / ERN:
Condition / Disease:
Publication: Endocrine v71.3 p696-705 Year: 2021 ORPHAcode / other:
DOI: 10.1007/s12020-021-02646-9 Keywords: Congenital hypothyroidism,Dyshormonogenesis,Epigenetics,Genetics,Oligogenism,Thyroid dysgenesis
MTG8

The prevalence of silent acromegaly in prolactinomas is very low


Author(s): Bona C, Prencipe N, Jaffrain-Rea ML, Carosi G, Lanzi R, Ambrosio MR, Pasquali D, Vettor R, Cannavò S, Ghigo E, Grottoli S
Affiliated Institution / ERN:
Condition / Disease: Acromegaly
Publication: Journal of Endocrinological Investigation v44.3 p531-539 Year: 2021 ORPHAcode / other: ORPHA963
DOI: 10.1007/s40618-020-01338-x Keywords: Cabergoline,Dopamine agonists,Prolactinoma,Silent acromegaly
MTG6

Functional Prognostic value of optical coherence tomography in optic chiasmal decompression: A preliminary study


Author(s): Mambour N, Maiter D, Duprez T, Costa E, Fomekong E, Raftopoulos C, Bugli C, Boschi A
Affiliated Institution / ERN: University Hospitals Saint-Luc ;
Condition / Disease: Sellar and parasellar tumours
Publication: Journal Français d'Ophtalmologie v44.3 p321-330 Year: 2021 ORPHAcode / other: ORPHA99408, ORPHA54595, ORPHA2495
DOI: 10.1016/j.jfo.2020.06.041 Keywords: Chiasmal compression,Compression chiasmatique,Functional predictive value,Ganglion Cell Complex,Optical coherence tomography,Récupération visuelle,Seuil,Threshold,Valeur prédictive fonctionnelle,Visual recovery
MTG6
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