Endo-ERN Publications Database
890 publication(s) found matching the search criteria
Abstracts of the 2023 Pediatric Endocrine Society (PES) Annual Meeting’ to Hormone Research in Paediatrics
Author(s):
Program Chairs, PES 2023 Annual Meeting Dr. Leena Nahata, Columbus, OH Dr. Takara Stanley, Boston, MA
Affiliated Institution / ERN:
Beaumont & CHI - Dublin ;
Condition / Disease:
growth hormone deficiency
Publication:
Hormone Research in Paediatrics v96.Suppl. 3 p1-399
Year:
2023
ORPHAcode / other:
ORPHA101957; ORPHA95488
Liver fat accumulation more than fibrosis causes early liver dynamic dysfunction in patients with non-alcoholic fatty liver disease
Author(s):
Di Ciaula A, Shanmugam H, Ribeiro R, Pina A, Andrade R, Bonfrate L, Raposo JF, Macedo MP, Portincasa P
Affiliated Institution / ERN:
APDP – Diabetes Portugal ;
Condition / Disease:
non-alcoholic fatty liver disease
Publication:
European Journal of Internal Medicine v107 p52-59
Year:
2023
ORPHAcode / other:
DOI:
10.1016/j.ejim.2022.10.024
Keywords:
Breath test,Fibroscan,Liver function,Liver steatosis,Liver stiffness,Metabolic-associated fatty liver disease,Non-alcoholic fatty liver disease
Position paper from the Endocrine Task Force of the European Organisation for Research and Treatment of Cancer (EORTC) on the management and shared decision making in patients with low-risk micro papillary thyroid carcinoma
Author(s):
Koot A, Soares P, Robenshtok E, Locati LD, de la Fouchardiere C, Luster M, Bongiovanni M, Hermens R, Ottevanger P, Geenen F, Bartѐs B, Rimmele H, Durante C, Nieveen-van Dijkum E, Stalmeier P, Dedecjus M, Netea-Maier R
Affiliated Institution / ERN:
Amsterdam UMC ; São João University Hospital(CHUSJ) ;
Condition / Disease:
papillary thyroid carcinoma
Publication:
European Journal of Cancer v179 p98-112
Year:
2023
ORPHAcode / other:
ORPHA146
DOI:
10.1016/j.ejca.2022.11.005
Keywords:
Microcarcinoma,Papillary,Shared decision making,Thyroid,Treatment options
Multi-omic integration reveals cell-type-specific regulatory networks of insulin resistance in distinct ancestry populations
Author(s):
Xu P, Wang M, Sharma NK, Comeau ME, Wabitsch M, Langefeld CD, Civelek M, Zhang B, Das SK
Affiliated Institution / ERN:
Ulm University Medical Center ;
Condition / Disease:
Insulin-resistance syndrome
Publication:
Cell Systems v14.1 p41-57.e8
Year:
2023
ORPHAcode / other:
ORPHA181368
DOI:
10.1016/j.cels.2022.12.005
Keywords:
African American,European American,adipose,eQTL,gene causal network,gene co-expression network,gene module,insulin resistance,key driver,muscle
Deescalating Follow-up After Hemithyroidectomy for Patients With Low-risk Papillary Thyroid Microcarcinoma
Author(s):
van Dijk SPJ, Coerts HI, Lončar I, Verhoef C, Kruijff S, Engelsman AF, Peeters RP, van Ginhoven TM
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
JAMA Otolaryngology–Head & Neck Surgery v149.1 p42
Year:
2023
ORPHAcode / other:
ORPHA146
Potentialities of Gene Therapy in Pediatric Endocrinology
Author(s):
Frontino G, Stancampiano MR, Aiuti A
Affiliated Institution / ERN:
Semmelweis University ;
Condition / Disease:
Rare endocrine conditions
Publication:
Hormone Research in Paediatrics v96.6 p646-657
Year:
2023
ORPHAcode / other:
ORPHA97978
DOI:
10.1159/000520965
Keywords:
Gene therapy,Monogenic disease,Pediatric endocrine disease,Type 1 diabetes
Continuous glucose monitoring and metrics for clinical trials: an international consensus statement
Author(s):
Battelino T, Alexander CM, Amiel SA, Arreaza-Rubin G, Beck RW, Bergenstal RM, Buckingham BA, Carroll J, Ceriello A, Chow E, Choudhary P, Close K, Danne T, Dutta S, Gabbay R, Garg S, Heverly J, Hirsch IB, Kader T, Kenney J, Kovatchev B, Laffel L, Maahs D, Mathieu C, Mauricio D, Nimri R, Nishimura R, Scharf M, Del Prato S, Renard E, Rosenstock J, Saboo B, Ueki K, Umpierrez GE, Weinzimer SA, Phillip M
Affiliated Institution / ERN:
University Medical Centre Ljubljana ;
Condition / Disease:
Continuous glucose monitoring
Publication:
The Lancet Diabetes & Endocrinology v11.1 p42-57
Year:
2023
ORPHAcode / other:
Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls
Author(s):
Guaragna-Filho G, Guerra-Junior G, Tadokoro-Cuccaro R, Hughes IA, Barros BA, Hiort O, Balsamo A, Guran T, Holterhus PM, Hannema S, Poyrazoglu S, Darendeliler F, Bryce J, Ahmed SF, Quigley CA
Affiliated Institution / ERN:
Universitätsklinikum Schleswig-Holstein ;
Condition / Disease:
Partial androgen insensitivity syndrome
Publication:
Sexual Development v17.1 p16-25
Year:
2023
ORPHAcode / other:
ORPHA754; ORPHA90797;
DOI:
10.1159/000526997
Keywords:
Androgen insensitivity syndrome,Differences of sex development,Disorders of sex development,Partial androgen insensitivity syndrome,Puberty
Type 1 diabetes mellitus prevention
Author(s):
Groele L, Szypowska A
Affiliated Institution / ERN:
Public Pediatric Teaching Hospital ;
Condition / Disease:
diabetes type 1
Publication:
Pediatric Endocrinology Diabetes and Metabolism v29.4 p209-213
Year:
2023
ORPHAcode / other:
The views of teenagers with obesity, their caregivers, and doctors: a plain language summary of the ACTION Teens global survey
Author(s):
Mooney V, Baur LA, Bereket A, Bin-Abbas B, Chen W, Fernández-Aranda F, Nieto NG, López Siguero JP, Maffeis C, Osorto CK, Reynoso R, Rhie Y, Toro-Ramos M, Halford JC
Affiliated Institution / ERN:
AOUI Verona ;
Condition / Disease:
obesity
Publication:
Journal of Comparative Effectiveness Research v12.1
Year:
2023
ORPHAcode / other:
ORPHA77828
DOI:
10.2217/cer-2022-0164
Keywords:
adolescents,caregivers,doctors,healthcare professionals,lay summary,obesity,plain language summary,survey,teenagers,weight,weight management
The transition from pediatric to adult care in individuals with Prader-Willi syndrome
Author(s):
Poitou C, Holland A, Höybye C, de Graaff LCG, Bottius S, Otterlei B, Tauber M
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Prader Willi syndrome
Publication:
Endocrine Connections v12.1
Year:
2023
ORPHAcode / other:
ORPHA739
Availability and access to pediatric diabetes care: a global descriptive study
Author(s):
Pulungan AB, de Beaufort C, Ratnasari AF, Puteri HA, Lewis-Watts L, Bhutta ZA
Affiliated Institution / ERN:
Centre Hospitalier de Luxembourg ;
Condition / Disease:
pediatric diabetes care
Publication:
Clinical Pediatric Endocrinology v32.3 p137-146
Year:
2023
ORPHAcode / other:
ORPHA101952
DOI:
10.1297/cpe.2023-0017
Keywords:
access,availability,children,diabetes,type 1 diabetes mellitus (T1DM)
Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center
Author(s):
Faradz SM, Listyasari N, Utari A, Ariani MD, Juniarto AZ, Santosa A, Ediati A, Rinne TK, Westra D, Claahsen-van der Grinten H, de Jong FH, Drop SL, Ayers K, Sinclair A
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ;
Condition / Disease:
DSD
Publication:
Sexual Development v17.4-6 p170-180
Year:
2023
ORPHAcode / other:
ORPHA98085; ORPHA2982; ORPHA325546;
DOI:
10.1159/000534085
Keywords:
Chromosomes,Disorders of sex development,Genes,Indonesia,Multidisciplinary team
Growth Hormone Dose Modulation and Final Height in Short Children Born Small for Gestational Age: French Real-Life Data
Author(s):
Coutant R, Leheup B, Nicolino M, Salles J
Affiliated Institution / ERN:
CHU d'Angers ;
Condition / Disease:
Growth Hormone Dose Modulation
Publication:
Hormone Research in Paediatrics v96.5 p495-508
Year:
2023
ORPHAcode / other:
ORPHA90692; ORPHA631;
DOI:
10.1159/000530572
Keywords:
Dose modulation,Growth hormone,Real-world data,Small for gestational age
Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development
Author(s):
Hiort M, Rohayem J, Knaf R, Laurentino S, Berglund A, Gravholt CH, Gromoll J, Wistuba J
Affiliated Institution / ERN:
Aarhus University Hospital ;
Condition / Disease:
46XX Testicular Disorders of Sex Development
Publication:
Sexual Development v17.1 p32-42
Year:
2023
ORPHAcode / other:
ORPHA325546
Challenges Waiting for an Adult with DSD
Author(s):
Nowotny HF, Reisch N
Affiliated Institution / ERN:
Klinikum der Universität München ;
Condition / Disease:
DSD
Publication:
Hormone Research in Paediatrics v96.2 p207-221
Year:
2023
ORPHAcode / other:
ORPHA98085; ORPHA2982; ORPHA325546;
DOI:
10.1159/000527433
Keywords:
46,XY DSD,Adult care,Androgen insensitivity syndrome,Comorbidities,Congenital adrenal hyperplasia,Disorders/differences of sex development,Gonadal dysgenesis,Klinefelter syndrome,Long-term outcome,Transition,Turner syndrome
A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype
Author(s):
Palumbo S, Cirillo G, Sanchez G, Aiello F, Fachin A, Baldo F, Pellegrin MC, Cassio A, Salerno M, Maghnie M, Faienza MF, Wasniewska M, Fintini D, Giacomozzi C, Ciccone S, Miraglia del Giudice E, Tornese G, Grandone A
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
DLK1 defect; idiopathic central precocious puberty;
Publication:
Journal of Endocrinological Investigation v46.6 p1233-1240
Year:
2022
ORPHAcode / other:
ORPHA650182
DOI:
10.1007/s40618-022-01997-y
Keywords:
DLK1,Genetics,Mutations,Precocious puberty, molecular screening
Resistance to Somatostatin Analogs in Italian Acromegaly Patients: The MISS Study
Author(s):
Berton AM, Prencipe N, Bertero L, Baldi M, Bima C, Corsico M, Bianchi A, Mantovani G, Ferraù F, Sartorato P, Gagliardi I, Ghigo E, Grottoli S
Affiliated Institution / ERN:
Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Acromegaly
Publication:
Journal of Clinical Medicine v12.1 p25
Year:
2022
ORPHAcode / other:
ORPHA963
DOI:
10.3390/jcm12010025
Keywords:
CAM5.2 granulation pattern,SSTR2,first-generation somatostatin receptor ligands,growth hormone-secreting adenoma,magnetic resonance imaging,precision medicine
The transition from pediatric to adult care in individuals with Prader-Willi syndrome
Author(s):
Poitou C, Holland A, Höybye C, de Graaff LCG, Bottius S, Otterlei B, Tauber M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections Volume 12: Issue 1
Year:
2022
ORPHAcode / other:
Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study
Author(s):
Zamanipoor Najafabadi AH, van der Meulen M, Priego Zurita AL, Ahmed SF, van Furth WR, Charmandari E, Hiort O, Pereira A, Dattani M, Vitali D, de Graaf J, Biermasz N
Affiliated Institution / ERN:
Leiden University Medical Center ; Assistance Publique-Hôpitaux de Marseille ; IRCCS Ospedale Policlinico San Martino – Genova ; Universitätsklinikum Schleswig-Holstein ; University Hospital Essen ;
Condition / Disease:
Pituitary adenoma
Publication:
Endocrine Connections Volume 12: Issue 1
Year:
2022
ORPHAcode / other:
ORPHA99408
Doctors, teach your adrenal insufficiency patients well: provide them with a European Emergency Card!
Author(s):
Beun JG, Burman P, Kämpe O, Husebye ES, Hahner S, Kristensen J, Noordzij A, Dahlqvist P
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections Volume 12: Issue 1
Year:
2022
ORPHAcode / other:
Pure-protein load for children with type 1 diabetes: is any additional insulin needed? A randomized controlled study
Author(s):
Dżygało K, Indulska K, Szypowska A
Affiliated Institution / ERN:
Public Pediatric Teaching Hospital ;
Condition / Disease:
Diabetes mellitus type 1
Publication:
Acta Diabetologica v60.3 p337-343
Year:
2022
ORPHAcode / other:
ORPHA181371
DOI:
10.1007/s00592-022-02012-9
Keywords:
High-protein beverage,Insulin pump,Postprandial glycemia,Pure-protein beverage,Square bolus
Patient journey experiences may contribute to improve healthcare for patients with rare endocrine diseases
Author(s):
Webb SM, Kristensen J, Nordenström A, Vitali D, Amodru V, Wiehe LK, Bolz-Johnson M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections Volume 11: Issue 12
Year:
2022
ORPHAcode / other:
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres
Author(s):
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus P, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R
Affiliated Institution / ERN:
Aarhus University Hospital ;
Condition / Disease:
DSD
Publication:
Endocrine Connections v11.12
Year:
2022
ORPHAcode / other:
ORPHA98085; ORPHA2982; ORPHA325546
DOI:
10.1530/ec-22-0367
Keywords:
congenital hypogonadotropic hypogonadism,disorders of sex development,next-generation sequencing,primary ovarian insufficiency,rare diseases or syndromes
Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)
Author(s):
van Haalen FM, Kaya M, Pelsma ICM, Dekkers OM, Biermasz NR, Cannegieter SC, Huisman MV, van Vlijmen BJM, Feelders RA, Klok FA, Pereira AM, Stochholm K, Fliers E, Castinetti F, Brue T, Bertherat J, Scaroni C, Colao A, Giordano R, Druce MR, Beckers A, Spranger J, Driessens N, Maiter D, Feldt-Rasmussen U, Feelders R, Webb SM, Dattani M, Husebye E, Zilaitiene B, Gaztambide S, Gatto F, Ferone D, Persani L, Chiodini I, Höybye C, Pereira AM, Biermasz NR, Klok FA, Dekkers OM, Meijer OC, Reincke M, Vila G, Perry C, Heck A, Stancampiano MR, van de Ven A, Johannsson G, Ragnarsson O, Tóth M, Volke V, Toumba M, Canu L, Vojtková J, Al-Mrayat M, Fassnacht M, Detomas M, Karavitaki N, van der Klauw MM, Groselj U, Elenkova A, Unuane D
Affiliated Institution / ERN:
Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Publication:
Orphanet Journal of Rare Diseases v17.1
Year:
2022
ORPHAcode / other:
ORPHA647758
DOI:
DOI: 10.1186/s13023-022-02320-x
Keywords:
Cushing’s syndrome,Endo-ERN survey,Guidelines,Hemostasis,Hypercortisolism,Thromboprophylaxis,Venous thromboembolism
Long-term efficacy and safety of osilodrostat in Cushing’s disease: final results from a Phase II study with an optional extension phase (LINC 2)
Author(s):
Fleseriu M, Biller BMK, Bertherat J, Young J, Hatipoglu B, Arnaldi G, O’Connell P, Izquierdo M, Pedroncelli AM, Pivonello R
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Cushing Disease
Publication:
Pituitary v25.6 p959-970
Year:
2022
ORPHAcode / other:
ORPHA96253
DOI:
10.1007/s11102-022-01280-6
Keywords:
Cortisol,Cushing’s disease,Cushing’s syndrome,Hypercortisolism,Osilodrostat,Steroidogenesis inhibitor
Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)
Author(s):
van Haalen FM, Kaya M, Pelsma ICM, Dekkers OM, Biermasz NR, Cannegieter SC, Huisman MV, van Vlijmen BJM, Feelders RA, Klok FA, Pereira AM, Stochholm K, Fliers E, Castinetti F, Brue T, Bertherat J, Scaroni C, Colao A, Giordano R, Druce MR, Beckers A, Spranger J, Driessens N, Maiter D, Feldt-Rasmussen U, Feelders R, Webb SM, Dattani M, Husebye E, Zilaitiene B, Gaztambide S, Gatto F, Ferone D, Persani L, Chiodini I, Höybye C, Pereira AM, Biermasz NR, Klok FA, Dekkers OM, Meijer OC, Reincke M, Vila G, Perry C, Heck A, Stancampiano MR, van de Ven A, Johannsson G, Ragnarsson O, Tóth M, Volke V, Toumba M, Canu L, Vojtková J, Al-Mrayat M, Fassnacht M, Detomas M, Karavitaki N, van der Klauw MM, Groselj U, Elenkova A, Unuane D
Affiliated Institution / ERN:
Bergen Hospital Trust ; Sahlgrenska University Hospital ;
Condition / Disease:
Cushings syndrome, thromboprophylaxis
Publication:
Orphanet Journal of Rare Diseases v17.1
Year:
2022
ORPHAcode / other:
ORPHA:96253; ORPHA647758; ORPHA189427; ORPHA314749
DOI:
10.1186/s13023-022-02320-x
Keywords:
Cushing’s syndrome,Endo-ERN survey,Guidelines,Hemostasis,Hypercortisolism,Thromboprophylaxis,Venous thromboembolism
Behavioral Changes in Patients With Prader-Willi Syndrome Can Mask Severe Physical Illness
Author(s):
Van Loo L, Vogels A, Rochtus A
Affiliated Institution / ERN:
UZ Leuven ;
Condition / Disease:
Prader Willi syndrome
Publication:
JCEM Case Reports v1.1
Year:
2022
ORPHAcode / other:
ORPHA739
DOI:
10.1210/jcemcr/luac034
Keywords:
Prader-Willi syndrome,behavioral changes,severe underlying illness
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres
Author(s):
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus P, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections Volume11: Issue 12
Year:
2022
ORPHAcode / other:
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives
Author(s):
van der Kaay DCM, Rochtus A, Binder G, Kurth I, Prawitt D, Netchine I, Johannsson G, Hokken-Koelega ACS, Elbracht M, Eggermann T
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections doi.org/10.1530/EC-22-0277
Year:
2022
ORPHAcode / other: