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Endo-ERN Publications Database
1008 publication(s) found matching the search criteria
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
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
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
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
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
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
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)
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
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 ; AOU-Bologna ;
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
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
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:
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
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
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:
Effect of cabergoline on tumor remnant after surgery in nonfunctioning pituitary adenoma
Author(s):
Iglesias P, Biagetti B, Araujo-Castro M, Alcázar V, Guerrero-Pérez F, Rivero N, Casteràs A, Gómez CG, Izquierdo BG, Torres VV, Pascual-Corrales E, Pavón I, Villabona C, Cordido F, Díez JJ
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Non-functioning pituitary adenoma
Publication:
Journal of Neuro-Oncology v160.2 p351-359
Year:
2022
ORPHAcode / other:
ORPHA91349
DOI:
10.1007/s11060-022-04149-7
Keywords:
Cabergoline,Dopamine agonists,Efficacy,Nonfunctioning pituitary adenoma,Safety,Therapeutic outcome
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:
Use of multikinase inhibitors/lenvatinib in singular thyroid cancer scenarios
Author(s):
Zafón C, Castelo B
Affiliated Institution / ERN:
Hospital Universitari Vall d’Hebron ;
Condition / Disease:
Non-metastatic Thyroid Carcinoma
Publication:
Cancer Medicine v11.S1 p3-4
Year:
2022
ORPHAcode / other:
ORPHA100088
Ictal central sleep‐related apnoea in Prader‐Willi syndrome
Author(s):
Giacobbe A, Andreoli L, Mauri E, Pajno R, Patria F, Pinzani R, Costantino AM, Barbieri S, Dilena R
Affiliated Institution / ERN:
San Raffaele hospital - Milan ; Foundation IRCCS CA'Granda Ospedale Maggiore polyclinic - Milan ;
Condition / Disease:
Prader-Willi syndrome
Publication:
Epileptic Disorders v24.5 p957-960
Year:
2022
ORPHAcode / other:
ORPHA739
Impact of gender-affirming treatment on bone health in transgender and gender diverse youth
Author(s):
Ciancia S, Dubois V, Cools M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections doi.org/10.1530/EC-22-0280
Year:
2022
ORPHAcode / other:
Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism
Author(s):
Gentilini D, Muzza M, de Filippis T, Vigone MC, Weber G, Calzari L, Cassio A, Di Frenna M, Bartolucci M, Grassi ES, Carbone E, Olivieri A, Persani L
Affiliated Institution / ERN:
San Raffaele hospital - Milan ;
Condition / Disease:
Permanent congenital hypothyroidism
Publication:
Journal of Endocrinological Investigation v46.2 p393-404
Year:
2022
ORPHAcode / other:
ORPHA226292
DOI:
10.1007/s40618-022-01915-2
Keywords:
Congenital diseases,Genome-wide DNA methylation,Preterm delivery,Thyroid,Thyroid dysgenesis,Twin gestation
Prader–Willi Syndrome in Adults: An Update On Nutritional Treatment and Pharmacological Approach
Author(s):
Barrea L, Vetrani C, Fintini D, de Alteriis G, Panfili FM, Bocchini S, Verde L, Colao A, Savastano S, Muscogiuri G
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Prader Willi Syndrome and Prader Willi-like Syndrome
Publication:
Current Obesity Reports v11.4 p263-276
Year:
2022
ORPHAcode / other:
ORPHA739
DOI:
10.1007/s13679-022-00478-w
Keywords:
Diet,Drugs,Ketogenic diet,Nutrition,Nutritionist,Obesity,Prader–Willi syndrome
A Critical Evaluation of the EU-virtual consultation platform (CPMS) within the European Reference Network on Rare Endocrine Conditions
Author(s):
White EK, Wagner IV, Beuzekom C van, Iotova V, Ahmed SF, Hiort O, Pereira A
Affiliated Institution / ERN:
Leiden University Medical Center ; Amsterdam UMC ; Universitätsklinikum Schleswig-Holstein ; UMHAT “Sveta Marina” (Varna) ;
Condition / Disease:
Publication:
Endocrine Connections Volume 11: Issue 11
Year:
2022
ORPHAcode / other:
Pediatric Graves’ orbitopathy: a multicentre study
Author(s):
Ionescu IC, van Trotsenburg PAS, Paridaens D, Tanck M, Mooij CF, Cagienard E, Kalmann R, Pakdel F, van der Meeren S, Saeed P
Affiliated Institution / ERN:
Amsterdam UMC ; Erasmus MC: University Medical Center Rotterdam ; University Medical Center Utrecht ; Leiden University Medical Center ;
Condition / Disease:
Paediatric-onset Graves disease
Publication:
Acta Ophthalmologica v100.6
Year:
2022
ORPHAcode / other:
ORPHA525731
DOI:
10.1111/aos.15084
Keywords:
Graves’ disease,Graves’ orbitopathy,orbital decompression,paediatric,rehabilitative surgery,severity,thyroid eye disease
