Endo-ERN Publications Database
895 publication(s) found matching the search criteria
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases
Author(s):
Kallali W, Messiaen C, Saïdi R, Lessim S, Viaud M, Dulon J, Nedelcu M, Samara D, Houang M, Donadille B, Courtillot C, de Filippo G, Carel J, Christin-Maitre S, Touraine P, Netchine I, Polak M, Léger J
Affiliated Institution / ERN:
Hospital Universitario Cruces ;
Condition / Disease:
Congenital endocrine conditions
Publication:
Orphanet Journal of Rare Diseases v16.1
Year:
2021
ORPHAcode / other:
ORPHA631, ORPHA238666, ORPHA2614, ORPHA562, ORPHA99429, ORPHA1772
The first European consensus on principles of management for achondroplasia
Author(s):
Cormier-Daire V, AlSayed M, Ben-Omran T, de Sousa SB, Boero S, Fredwall SO, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Peijin Z, Mohnike K
Affiliated Institution / ERN:
IRCCS Istituto Giannina Gaslini, Genova ; UZ Antwerpen ; Universitätsklinikum Magdeburg ; ERN BOND ;
Condition / Disease:
Achondroplasia
Publication:
Orphanet Journal of Rare Diseases v16.1
Year:
2021
ORPHAcode / other:
ORPHA15
DOI:
10.1186/s13023-021-01971-6
Keywords:
Achondroplasia,European Achondroplasia Forum,Guiding principles
Sex Bias in Differentiated Thyroid Cancer
Author(s):
Suteau V, Munier M, Briet C, Rodien P
Affiliated Institution / ERN:
CHU d'Angers ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
International Journal of Molecular Sciences v22.23 p12992
Year:
2021
ORPHAcode / other:
ORPHA146
DOI:
10.3390/ijms222312992
Keywords:
estrogens,oncogenes,reactive oxygen species (ROS),sex bias,thyroid cancer
Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia
Author(s):
Katkevica A, Kreile M, Grinfelde I, Taurina G, Micule I, Dzivite-Krisane I, Smite-Laguna A, Malniece I
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Case Reports in Medicine v2021 p1-5
Year:
2021
ORPHAcode / other:
The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease Registry
Author(s):
Ali SR, Bryce J, Kodra Y, Taruscio D, Persani L, Ahmed SF
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ; Leiden University Medical Center ;
Condition / Disease:
Rare disease registries
Publication:
International Journal of Environmental Research and Public Health v18.22 p11968
Year:
2021
ORPHAcode / other:
ORPHA97978
Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β
Author(s):
Lauffer P, Bikker H, Garrelfs MR, Hillebrand JJ, de Sonnaville MC, Zwaveling-Soonawala N, van Trotsenburg AP
Affiliated Institution / ERN:
Amsterdam UMC ;
Condition / Disease:
Congenital hypothyroidism
Publication:
Thyroid v31.11 p1757-1762
Year:
2021
ORPHAcode / other:
ORPHA442
DOI:
10.1089/thy.2021.0204
Keywords:
congenital hypothyroidism,resistance to thyroid hormone,sodium-iodide symporter,thyroid hormone receptor-β
Seventy eight children born small for gestational age without catch-up growth treated with growth hormone from the prepubertal stage until adult height age. An evaluation of puberty and changes in the metabolic profile
Author(s):
Campos-Martorell A, Fernández-Cancio M, Clemente León M, Mogas Viñals E, Fàbregas Martori A, Carrascosa Lezcano A, Yeste Fernández D
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Small for gestational age
Publication:
Endocrinología, Diabetes y Nutrición (English ed.) v68.9 p612-620
Year:
2021
ORPHAcode / other:
DOI:
10.1016/j.endien.2021.11.024
Keywords:
Adult height,Growth hormone,Hormona de crecimiento,Pequeño para la edad gestacional,Pubertad,Pubertal maturity group,Puberty,Small for gestational age,Talla adulta
Persistent Postthyroidectomy Hypoparathyroidism in the Netherlands
Author(s):
Lončar I, Noltes ME, Dickhoff C, Engelsman AF, Schepers A, Vriens MR, Bouvy ND, Kruijff S, van Ginhoven TM
Affiliated Institution / ERN:
Universitätsklinikum Schleswig-Holstein ; University Hospital Essen ; Universitätsklinikum Tübingen ; University Hospital Florence ; Ulm University Medical Center ;
Condition / Disease:
Hypoparathyroidism
Publication:
JAMA Otolaryngology–Head & Neck Surgery v147.11 p959
Year:
2021
ORPHAcode / other:
Effectiveness of a closed‐loop control system and a virtual educational camp for children and adolescents with type 1 diabetes: A prospective, multicentre, real‐life study
Author(s):
Cherubini V, Rabbone I, Berioli MG, Giorda S, Lo Presti D, Maltoni G, Mameli C, Marigliano M, Marino M, Minuto N, Mozzillo E, Piccinno E, Predieri B, Ripoli C, Schiaffini R, Rigamonti A, Salzano G, Tinti D, Toni S, Zanfardino A, Scaramuzza AE, Gesuita R, Tiberi V, Savastio S, Pigniatiello C, Trada M, Zucchini S, Redaelli FC, Maffeis C, Bassi M, Rosanio FM, Delvecchio M, Buzzi P, Ricciardi MR, Carducci C, Bonfanti R, Lombardo F, Piccini B, Iafusco D, Calandretti M, Daga FA
Affiliated Institution / ERN:
AO City of Health and Science - Turin ; AOU-Bologna ; AOUI Verona ; IRCCS Istituto Giannina Gaslini, Genova ; AOU Federico II - Naples ; San Raffaele hospital - Milan ; AOU polyclinic "G.Martino" of Messina ; Meyer Children’s Hospital Florence ; AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
Type 1 Diabetes Mellitus
Publication:
Diabetes, Obesity and Metabolism v23.11 p2484-2491
Year:
2021
ORPHAcode / other:
5A10
DOI:
10.1111/dom.14491
Keywords:
CSII,continuous glucose monitoring,glycaemic control,insulin pump therapy,observational study,type 1 diabetes
Pheochromocytoma Resection in a Patient With Chronic Thromboembolic Pulmonary Hypertension and Thrombocytopenia
Author(s):
Stombaugh DK, Thomas C, Dalton A, Chaney MA, Nunnally ME, Berends AM, Kerstens MN
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Phaeochromocytoma
Publication:
Journal of Cardiothoracic and Vascular Anesthesia v35.11 p3423-3433
Year:
2021
ORPHAcode / other:
ORPHA573163
DOI:
10.1053/j.jvca.2021.03.034
Keywords:
Pheochromocytoma,chronic thromboembolic pulmonary hypertension,right ventricular dysfunction
Adrenalectomy for incidental and symptomatic phaeochromocytoma: retrospective multicentre study based on the Eurocrine® database
Author(s):
Hallin Thompson L, Makay Ã, Brunaud L, Raffaelli M, Bergenfelz A, Musholt T, Palazzo F, Almquist M, Barczynski M, Clerici T, Vriens M, Raffaelli M, Makay Ã, Munos Pérez N, Hansen MH, Brunaud L, Van Slycke S, Riss P, Iacobone M, Nordenström E
Affiliated Institution / ERN:
University Medical Center Mainz ; University Medical Center Utrecht ; San Raffaele hospital - Milan ; University Hospital of Padova ;
Condition / Disease:
Phaeochromocytoma
Publication:
British Journal of Surgery v108.10 p1199-1206
Year:
2021
ORPHAcode / other:
ORPHA573163
DOI:
10.1093/bjs/znab199
Keywords:
pheochromocytoma, hypertension, catecholamines, adrenal, ectomyperioperative carepreoperative caresurgical procedures, operativeneoplasms
Consensus on diagnosis and management of Cushing’s disease: a guideline update
Author(s):
Maria Fleseriu, Richard Auchus, Irina Bancos, Anat Ben-Shlomo, Jerome Bertherat, Nienke R Biermasz, Cesar L Boguszewski, Marcello D Bronstein, Michael Buchfelder, John D Carmichael, Felipe F Casanueva, Frederic Castinetti, Philippe Chanson, James Findling, Mônica Gadelha, Eliza B Geer, Andrea Giustina, Ashley Grossman, Mark Gurnell, Ken Ho, Adriana G Ioachimescu, Ursula B Kaiser, Niki Karavitaki, Laurence Katznelson, Daniel F Kelly, André Lacroix, Ann McCormack, Shlomo Melmed, Mark Molitch, Pietro Mortini, John Newell-Price, Lynnette Nieman, Alberto M Pereira, Stephan Petersenn, Rosario Pivonello, Hershel Raff, Martin Reincke, Roberto Salvatori, Carla Scaroni, Ilan Shimon, Constantine A Stratakis, Brooke Swearingen, Antoine Tabarin, Yutaka Takahashi, Marily Theodoropoulou, Stylianos Tsagarakis, Elena Valassi, Elena V Varlamov, Greisa Vila, John Wass, Susan M Webb, Maria C Zatelli, Beverly M K Bill
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Leiden University Medical Center ; Assistance Publique-Hôpitaux de Marseille ; Hôpital Bicêtre ; San Raffaele hospital - Milan ; University Hospital Essen ; AOU Federico II - Naples ; Klinikum der Universität München ; University Hospital of Padova ; Evangelismos General Hospital ; Hospital de la Santa Creu i Sant Pau ; AOU - Ferrara ;
Condition / Disease:
Cushing's disease
Publication:
The Lancet Diabetes & Endocrinology
Year:
2021
ORPHAcode / other:
ORPHA96253
Focal Thyroid Incidentalomas on 18F-FDG PET/CT: A Systematic Review and Meta-Analysis on Prevalence, Risk of Malignancy and Inconclusive Fine Needle Aspiration
Author(s):
de Leijer JF, Metman MJH, van der Hoorn A, Brouwers AH, Kruijff S, van Hemel BM, Links TP, Westerlaan HE
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Thyroid carcinoma
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA100088
DOI:
10.3389/fendo.2021.723394
Keywords:
FDG (18F-fluorodeoxyglucose)-PET/CT,incidentaloma,thyroid,thyroid cancer,thyroid nodule
Opposite Incidence Trends for Differentiated and Medullary Thyroid Cancer in Young Dutch Patients over a 30-Year Time Span
Author(s):
Lebbink C, van den Broek M, Kwast A, Derikx J, Dierselhuis M, Kruijff S, Links T, van Trotsenburg A, Valk G, Vriens M, Verrijn Stuart A, van Santen H, Karim-Kos H
Affiliated Institution / ERN:
University Hospital Florence ; University Hospital Essen ;
Condition / Disease:
Differentiated and medullary thyroid carcinoma
Publication:
Cancers v13.20 p5104
Year:
2021
ORPHAcode / other:
ORPHA146, ORPHA1332
DOI:
10.3390/cancers13205104
Keywords:
adolescents,children,epidemiology,incidence,survival,thyroid cancer,young adults
Cost-Utility of Acromegaly Pharmacological Treatments in a French Context
Author(s):
Brue T, Chanson P, Rodien P, Delemer B, Drui D, Marié L, Juban L, Salvi L, Henocque R, Raverot G
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Marseille ; Hôpital Bicêtre ; CHU d'Angers ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Hospices Civils de Lyon ;
Condition / Disease:
Acromegaly
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA963
DOI:
10.3389/fendo.2021.745843
Keywords:
QALY,acromegaly,cost-utility,growth hormone,insulin-like growth factor-1,pasireotide,pegvisomant,somatostatin
Multicenter Analysis of Presacral Neuroendocrine Neoplasms—Clinicopathological Characterization and Treatment Outcomes of a Rare Disease
Author(s):
Matrood S, Apostolidis L, Schrader J, Krug S, Lahner H, Ramaswamy A, Librizzi D, Kender Z, Kröcher A, Kreutzfeldt S, Gress TM, Rinke A
Affiliated Institution / ERN:
ERN BOND ;
Condition / Disease:
Neuroendocrine Neoplasms
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA877
DOI:
10.3389/fendo.2021.709256
Keywords:
CUP-NET,PRRT,carcinoid,neuroendocrine carcinoma,neuroendocrine tumor,presacral,prognosis,retrorectal
A New Clinical Model to Estimate the Pre-Test Probability of Cushing’s Syndrome: The Cushing Score
Author(s):
Parasiliti-Caprino M, Bioletto F, Frigerio T, D’Angelo V, Ceccato F, Ferraù F, Ferrigno R, Minnetti M, Scaroni C, Cannavò S, Pivonello R, Isidori A, Broglio F, Giordano R, Spinello M, Grottoli S, Arvat E
Affiliated Institution / ERN:
AO City of Health and Science - Turin ; University Hospital of Padova ; AOU polyclinic "G.Martino" of Messina ; AOU Federico II - Naples ;
Condition / Disease:
Cushing syndrome
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA553
DOI:
10.3389/fendo.2021.747549
Keywords:
adrenal disease,adrenocorticotrophic hormone,corticosteroids,cortisol,hypercortisolism,pituitary disease
Association between long term exposure to particulate matter and incident hypertension in Spain
Author(s):
Doulatram-Gamgaram V, Valdés S, Maldonado-Araque C, Lago-Sampedro A, Badía-Guillén R, García-Escobar E, García-Serrano S, García-Vivanco M, Garrido JL, Theobald MR, Gil V, Martín-Llorente F, Calle-Pascual A, Bordiu E, Castaño L, Delgado E, Franch-Nadal J, Chaves FJ, Montanya E, Galán-García JL, Aguilera-Venegas G, Soriguer F, Rojo-Martínez G
Affiliated Institution / ERN:
Condition / Disease:
Hypertension
Publication:
Scientific Reports v11.1
Year:
2021
ORPHAcode / other:
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
Author(s):
Bakhuizen JJ, Hanson H, van der Tuin K, Lalloo F, Tischkowitz M, Wadt K, Jongmans MCJ, Dörgeloh BB, Farah RA, Glentis S, Golmard L, Hoyer J, Jahnukainen K, Jewell R, Karow A, Katsibardi K, Kuhlen M, Meinhardt A, Nemes K, Poluha A, Ripperger T, Waespe N, Adlard J, Ahmed M, Brennan B, Dabir T, Evans DG, Kelsey A, Kohut K, Kulkarni A, Murray A, Ong KR, Penn A, Semple T, Woodward ER, van Leeuwaarde RS, Littooij AS, Merks JHM, Rasmussen ÃK, van Santen HM, Smetsers SE
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Familial Cancer v20.4 p337-348
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s10689-021-00264-y
Keywords:
Cancer predisposition syndrome,DICER1,Hereditary,Surveillance
Bone Quality as Measured by Trabecular Bone Score in Normocalcemic Primary Hyperparathyroidism
Author(s):
Naciu AM, Tabacco G, Falcone S, Incognito GG, Chiodini I, Maggi D, Pedone C, Lelli D, Bilezikian JP, Napoli N, Manfrini S, Cesareo R, Palermo A
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease:
Hyperparathyroidism
Publication:
Endocrine Practice v27.10 p992-997
Year:
2021
ORPHAcode / other:
ORPHA181408
DOI:
10.1016/j.eprac.2021.04.884
Keywords:
PTH,TBS,calcium,hyperparathyroidism,normocalcemic hyperparathyroidism,vertebral fractures
Adrenal ganglioneuromas: a retrospective multicentric study of 104 cases from the COMETE network
Author(s):
Deflorenne E, Peuchmaur M, Vezzosi D, Ajzenberg C, Brunaud L, Chevalier N, Christin-Maitre S, Decoudier B, Driessens N, Drui DD, Gilly O, Goudet P, Illouz F, Jublanc C, Lefebvre H, Lopez A, Lussey C, Morini A, Raffin-Sanson M, Raingeard I, Renoult-Pierre P, Storey C, Tabarin A, Vantyghem MC, Vidal-Petiot E, Baudin E, Bertherat J, Amar L
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; CHU de Toulouse ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; CHU d'Angers ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Multiple endocrine neoplasia type 2B
Publication:
European Journal of Endocrinology v185.4 p463-474
Year:
2021
ORPHAcode / other:
ORPHA247709
Myocardial Geometry and Dysfunction in Morbidly Obese Adolescents (BMI 35–40 kg/m2)
Author(s):
Siurana JM, Ventura PS, Yeste D, Riaza-Martin L, Arciniegas L, Clemente M, Torres M, Amigó N, Giralt G, Roses-Noguer F, Sabate-Rotes A
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Obesity
Publication:
The American Journal of Cardiology v157 p128-134
Year:
2021
ORPHAcode / other:
5B81.00
Illness-related burden, personal resources and need for support in patients with acromegaly: Results of a focus group analysis
Author(s):
Siegel S, Kirstein CF, Schröder B, Unger N, Kreitschmann-Andermahr I
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Acromegaly
Publication:
Growth Hormone & IGF Research v60-61 p101422
Year:
2021
ORPHAcode / other:
ORPHA963
Distinct Late-Night Salivary Cortisol Cut-Off Values for the Diagnosis of Hypercortisolism
Author(s):
van Baal L, Wichert M, Zwanziger D, Dralle H, Weber F, Kreitschmann-Andermahr I, Führer D, Unger N
Affiliated Institution / ERN:
Children's Clinical University Hospital, Riga ;
Condition / Disease:
Cushing's disease, Cushing's syndrome
Publication:
Hormone and Metabolic Research v53.10 p662-671
Year:
2021
ORPHAcode / other:
ORPHA96253, ORPHA189427
Detection by fluorescence of pituitary neuroendocrine tumour (PitNET) tissue during endoscopic transsphenoidal surgery using bevacizumab-800CW (DEPARTURE trial): study protocol for a non-randomised, non-blinded, single centre, feasibility and dose-finding trial
Author(s):
Vergeer RA, Postma MR, Schmidt I, Korsten-Meijer AG, Feijen RA, Kruijff S, Nagengast WB, van Dijk JMC, den Dunnen WFA, van Beek AP, Kuijlen JMA, van den Berg G
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Pituitary adenoma
Publication:
BMJ Open v11.10 pe049109
Year:
2021
ORPHAcode / other:
ORPHA99408
Gene expression signatures predict response to therapy with growth hormone
Author(s):
Stevens A, Murray P, De Leonibus C, Garner T, Koledova E, Ambler G, Kapelari K, Binder G, Maghnie M, Zucchini S, Bashnina E, Skorodok J, Yeste D, Belgorosky A, Siguero JL, Coutant R, Vangsøy-Hansen E, Hagenäs L, Dahlgren J, Deal C, Chatelain P, Clayton P
Affiliated Institution / ERN:
Public Pediatric Teaching Hospital ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; IRCCS Ospedale Policlinico San Martino – Genova ; Merkur University Hospital ; Karol Jonscher Clinical Hospital of Poznań University of Medical Sciences ; ERN BOND ;
Condition / Disease:
Growth hormone deficiency, Turner syndrome
Publication:
The Pharmacogenomics Journal v21.5 p594-607
Year:
2021
ORPHAcode / other:
ORPHA631, ORPHA881
Circulating adrenomedullin and B-type natriuretic peptide do not predict blood pressure fluctuations during pheochromocytoma resection: a cross-sectional study
Author(s):
Berends AMA, Buitenwerf E, Riphagen IJ, Lenders JWM, Timmers HJLM, Kruijff S, Links TP, van der Horst-Schrivers ANA, Stegeman CA, Eekhoff EMW, Feelders RA, Corssmit EPM, Groote Veldman R, Haak HR, Muller Kobold AC, Kerstens MN
Affiliated Institution / ERN:
University Hospital Essen ; Sestre milosrdnice University Hospital Center ; Universitätsklinikum Schleswig-Holstein ; Universitätsklinikum Tübingen ; University Hospital Aachen ; Ulm University Medical Center ;
Condition / Disease:
Phaeochromocytoma and paraganglioma
Publication:
European Journal of Endocrinology v185.4 p507-514
Year:
2021
ORPHAcode / other:
ORPHA573163
Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis
Author(s):
Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, García-Pérez N, García-Ledesma P, Martín-Penagos L, Dall’Anese C, Ariceta G, Castaño L, Madariaga L
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Pediatric Nephrology v36.10 p3133-3142
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s00467-021-05066-z
Keywords:
ATP6V0A4,ATP6V1B1,Distal renal tubular acidosis,Genotype-phenotype correlation,Growth,Long-term outcome,SLC4A1
Complications After Thyroidectomy in Children: Lymph Node Dissection Is a Risk Factor for Permanent Hypocalcemia
Author(s):
van Rooijen JJ, van Trotsenburg ASP, van de Berg DJ, Zwaveling-Soonawala N, Nieveen van Dijkum EJM, Engelsman AF, Derikx JPM, Mooij CF
Affiliated Institution / ERN:
Amsterdam UMC ;
Condition / Disease:
Pediatric Graves disease; thyroid carcinoma;
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA525731; ORPHA100088;
DOI:
10.3389/fendo.2021.717769
Keywords:
Graves’ disease,hypocalcemia,postoperative complications,recurrent laryngeal nerve (RLN) injury,thyroid cancer,thyroidectomy
Health-Related Quality of Life in Patients With Early-Detected Central Congenital Hypothyroidism
Author(s):
Naafs JC, Marchal JP, Verkerk PH, Fliers E, van Trotsenburg ASP, Zwaveling-Soonawala N
Affiliated Institution / ERN:
Condition / Disease:
Central congenital hypothyroidism
Publication:
The Journal of Clinical Endocrinology & Metabolism v106.10 pe4231-e4241
Year:
2021
ORPHAcode / other:
ORPHA226298
DOI:
10.1210/clinem/dgab209
Keywords:
central hypothyroidism,congenital hypothyroidism,fatigue,neonatal screening,quality of life