Endo-ERN Publications Database
895 publication(s) found matching the search criteria
Prognostic significance of laterality in lung neuroendocrine tumors
Author(s):
La Salvia A, Persano I, Siciliani A, Verrico M, Bassi M, Modica R, Audisio A, Zanata I, Trabalza Marinucci B, Trevisi E, Puliani G, Rinzivillo M, Parlagreco E, Baldelli R, Feola T, Sesti F, Razzore P, Mazzilli R, Mancini M, Panzuto F, Volante M, Giannetta E, Romero C, Appetecchia M, Isidori A, Venuta F, Ambrosio MR, Zatelli MC, Ibrahim M, Colao A, Brizzi MP, García-Carbonero R, Faggiano A
Affiliated Institution / ERN:
AOU Federico II - Naples ; ERN BOND ;
Condition / Disease:
Publication:
Endocrine v76.3 p733-746
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s12020-022-03015-w
Keywords:
Ki67 index,Lung neuroendocrine tumors,Mitotic count,Necrosis,Prognostic factors.,Tumor location
We mind your step: understanding and preventing drop-out in the transfer from paediatric to adult tertiary endocrine healthcare
Author(s):
Davidse K, van Staa A, Geilvoet W, van Eck JP, Pellikaan K, Baan J, Hokken-Koelega ACS, van den Akker ELT, Sas T, Hannema SE, van der Lely AJ, de Graaff LCG
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; Leiden University Medical Center ;
Condition / Disease:
Publication:
Endocrine Connections Volume 11: Issue 5
Year:
2022
ORPHAcode / other:
DOI:
doi.org/10.1530/EC-22-0025
Keywords:
transition to adult care; adolescent; young adult; paediatrics; endocrinology;
First baseline data of the Klinefelter ItaliaN Group (KING) cohort: clinical features of adult with Klinefelter syndrome in Italy
Author(s):
Pasquali D, Chiodini P, Simeon V, Ferlin A, Vignozzi L, Corona G, Lanfranco F, Rochira V, Calogero AE, Bonomi M, Pivonello R, Balercia G, Pizzocaro A, Giagulli VA, Salacone P, Aversa A, Accardo G, Maggi M, Lenzi A, Isidori A, Foresta C, Jannini EA, Garolla A, Pasquali D, Ferlin A, Vignozzi L, Corona G, Lanfranco F, Rochira V, Calogero AE, Bonomi M, Pivonello R, Balercia G, Pizzocaro A, Giagulli VA, Salacone P, Aversa A, Accardo G, Maggi M, Lenzi A, Isidori A, Foresta C, Jannini EA, Garolla A
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Publication:
Journal of Endocrinological Investigation v45.9 p1769-1776
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s40618-022-01816-4
Keywords:
BMI,FSH,Klinefelter syndrome,LH,MetS,Metabolic syndrome,Testis,Testosterone
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):
F M van Haalen, M Kaya, I C M Pelsma, O M Dekkers, N R Biermasz, S C Cannegieter, M V Huisman, B J M van Vlijmen, R A Feelders, F A Klok, A M Pereira, Endo-ERN Cushing and Thrombosis study group
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Orphanet Journal of Rare Diseases 178. doi: 10.1186/s13023-022-02320-x
Year:
2022
ORPHAcode / other:
Complicated Clinical Course in Incipient Gigantism Due to Treatment-resistant Aryl Hydrocarbon Receptor–Interacting Protein–mutated Pediatric Somatotropinoma
Author(s):
van Santen SS, Daly AF, Buchfelder M, Coras R, Zhao Y, Beckers A, van der Lely AJ, Hofland LJ, Balvers RK, van Koetsveld P, van den Heuvel-Eibrink MM, Neggers SJCMM
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; University Hospital Liège ; University Medical Center Utrecht ;
Condition / Disease:
Somatotropic adenoma
Publication:
AACE Clinical Case Reports v8.3 p119-123
Year:
2022
ORPHAcode / other:
ORPHA96256
DOI:
10.1016/j.aace.2021.12.003
Keywords:
AIP mutation,AIP, aryl hydrocarbon receptor–interacting protein,GH, growth hormone,IGF-I, insulin-like growth factor I,LAR, long-acting release,NR, normal range,SDS, standardised deviation scores,SSA, somatostatin analog,SSTR, somatostatin receptor,acromegaly,gigantism,macroadenoma,pituitary adenoma,somatotropinoma
Multicenter retro-prospective observational study on chronic hypoparathyroidism and rhPTH (1–84) treatment
Author(s):
Marcucci G, Beccuti G, Carosi G, Cetani F, Cianferotti L, Colao AM, Di Somma C, Duradoni M, Elefante A, Ghizzoni L, Giusti M, Lania AG, Lavezzi E, Madeo B, Mantovani G, Marcocci C, Masi L, Parri S, Pigliaru F, Santonati A, Spada A, Vera L, Brandi ML
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Hypoparathyroidism
Publication:
Journal of Endocrinological Investigation v45.9 p1653-1662
Year:
2022
ORPHAcode / other:
ORPHA181405
Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline
Author(s):
A Nordenström, S F Ahmed, E van den Akker, J Blair, M Bonomi, C Brachet, L H A Broersen, H L Claahsen-van der Grinten, A B Dessens, A Gawlik, C H Gravholt, A Juul, C Krausz, T Raivio, A Smyth, P Touraine, D Vitali, O M Dekkers 2
Affiliated Institution / ERN:
Karolinska University Hospital ; Erasmus MC: University Medical Center Rotterdam ; IRCCS Auxologico Italian Institute - Milan ; Hôpital Universitaire de Bruxelles (HUDERF-Erasme) ; Radboud University Medical Centre Nijmegen ; Ghent University Hospital ; Medical University of Silesia in Katowice ; Aarhus University Hospital ; Meyer Children’s Hospital Florence ; Helsinki University Hospital (HUS) ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Leiden University Medical Center ;
Condition / Disease:
Publication:
European Journal of Endocrinology 186(6):G9-G49. doi: 10.1530/EJE-22-0073
Year:
2022
ORPHAcode / other:
Effective GH Replacement With Once-weekly Somapacitan vs Daily GH in Children with GHD: 3-year Results From REAL 3
Author(s):
Sävendahl L, Battelino T, Højby Rasmussen M, Brod M, Saenger P, Horikawa R
Affiliated Institution / ERN:
Karolinska University Hospital ; University Medical Centre Ljubljana ;
Condition / Disease:
Growth hormone deficiency
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.5 p1357-1367
Year:
2022
ORPHAcode / other:
ORPHA631
DOI:
10.1210/clinem/dgab928
Keywords:
childhood growth hormone deficiency,growth hormone,growth hormone deficiency,growth hormone replacement therapy,long-acting growth hormone,somapacitan
Graves’ Disease in the Young: Could We Change the Weather?
Author(s):
Rodien P
Affiliated Institution / ERN:
CHU d'Angers ;
Condition / Disease:
Paediatric-onset Graves disease
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.5 pe2186-e2187
Year:
2022
ORPHAcode / other:
ORPHA525731
DOI:
10.1210/clinem/dgab909
Keywords:
Graves’ disease,adolescents,children,rituximab,thionamide,thyrotoxicosis
A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY
Author(s):
Kettunen JLT, Rantala E, Dwivedi OP, Isomaa B, Sarelin L, Kokko P, Hakaste L, Miettinen PJ, Groop LC, Tuomi T
Affiliated Institution / ERN:
Helsinki University Hospital (HUS) ;
Condition / Disease:
Rare Diabetes
Publication:
Diabetologia v65.4 p632-643
Year:
2022
ORPHAcode / other:
ORPHA101952
DOI:
10.1007/s00125-021-05631-z
Keywords:
Age at onset,Glucagon,HNF1A-MODY,Insulin deficiency,Lipolysis,MODY3,Maturity-onset diabetes of the young (MODY),Monogenic diabetes,NEFA,Polygenic risk score for type 2 diabetes
Understanding the Patient Experience of Hunger and Improved Quality of Life with Setmelanotide Treatment in POMC and LEPR Deficiencies
Author(s):
Wabitsch M, Fehnel S, Mallya UG, Sluga-O’Callaghan M, Richardson D, Price M, Kühnen P
Affiliated Institution / ERN:
Ulm University Medical Center ;
Condition / Disease:
Rare Genetic Obesity
Publication:
Advances in Therapy v39.4 p1772-1783
Year:
2022
ORPHAcode / other:
ORPHA77828
DOI:
10.1007/s12325-022-02059-8
Keywords:
Disease Burden,Hyperphagia,Leptin Receptor,Melanocortin Receptor,Pro-Opiomelanocortin,Rare Genetic Diseases of Obesity
Risk factors for gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs): a three-centric case–control study
Author(s):
Feola T, Puliani G, Sesti F, Modica R, Centello R, Minotta R, Cannavale G, Di Meglio S, Di Vito V, Lauretta R, Appetecchia M, Colao A, Lenzi A, Isidori AM, Faggiano A, Giannetta E
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
MEN Type 1
Publication:
Journal of Endocrinological Investigation v45.4 p849-857
Year:
2022
ORPHAcode / other:
ORPHA652
DOI:
10.1007/s40618-021-01715-0
Keywords:
Cancer family history,Diabetes mellitus,GEP-NET,Gastroenteropancreatic neuroendocrine neoplasms,Metformin,Obesity
ENDO-ERN ON RARE ENDOCRINE CONDITIONS: Endo-ERN in its fifth year: a pinch of care, science, curiosity and new horizons
Author(s):
Iotova V, Bertherat J, Mastorakos G, Hiort O, Pereira AM
Affiliated Institution / ERN:
UMHAT “Sveta Marina” (Varna) ; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ; Universitätsklinikum Schleswig-Holstein ; Leiden University Medical Center ;
Condition / Disease:
Publication:
Endocrine Connections Volume 11: Issue 3
Year:
2022
ORPHAcode / other:
Significant and persistent improvements in time in range and positive emotions in children and adolescents with type 1 diabetes using a closed-loop control system after attending a virtual educational camp
Author(s):
Rabbone I, Savastio S, Pigniatiello C, Carducci C, Berioli MG, Cherubini V, Lo Presti D, Maltoni G, Mameli C, Marigliano M, Minuto N, Mozzillo E, Piccinno E, Predieri B, Rigamonti A, Ripoli C, Schiaffini R, Lombardo F, Tinti D, Toni S, Zanfardino A, Scaramuzza AE, BassiBassi M, Bonfanti R, Bruzzi P, Delvecchio M, Giorda S, Iafusco D, Salzano G, Maffeis C, Redaelli FC, Marino M, Piccini B, Ricciardi MR, Rosanio FM, Tiberi V, Trada M, Zanetta S, Zucchini S, Calandretti M, Daga FA, Gesuita R, Cavalli C
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Acta Diabetologica v59.6 p837-842
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s00592-022-01878-z
Keywords:
Adolescents,Advanced hybrid closed loop,Children,Closed-loop control,Emotions,Type 1 diabetes,Virtual educational camp
Development and internal validation of a predictive model for the estimation of pheochromocytoma recurrence risk after radical surgery
Author(s):
Parasiliti-Caprino M, Bioletto F, Lopez C, Maletta F, Caputo M, Gasco V, La Grotta A, Limone P, Borretta G, Volante M, Papotti M, Terzolo M, Morino M, Pasini B, Veglio F, Ghigo E, Arvat E, Maccario M
Affiliated Institution / ERN:
AO City of Health and Science - Turin ;
Condition / Disease:
Phaeochromocytoma and paraganglioma
Publication:
European Journal of Endocrinology v186.3 p399-406
Year:
2022
ORPHAcode / other:
ORPHA573163
Parathyroid Function Saving Total Thyroidectomy Using Autofluorescence and Quantified Indocyanine Green Angiography
Author(s):
Noltes ME, Metman MJ, Jansen L, Peeperkorn EW, Engelsman AF, Kruijff S
Affiliated Institution / ERN:
University Hospital Essen ;
Condition / Disease:
Thyroid carcinoma
Publication:
VideoEndocrinology v9.1
Year:
2022
ORPHAcode / other:
ORPHA100088
DOI:
10.1089/ve.2021.0008
Keywords:
ICG angiography,autofluorescence,hypoparathyroidism,parathyroid,total thyroidectomy
Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms
Author(s):
Vrtel P, Vrtel R, Klaskova E, Vrbicka D, Adamova K, Pavlicek J, Hana V, Hana V, Soucek O, Stara V, Lebl J, Snajdrova M, Zapletalova J, Furst T, Kapralova S, Tauber Z, Krejcirikova E, Routilova M, Stellmachova J, Vodicka R, Prochazka M
Affiliated Institution / ERN:
AOU Federico II - Naples ; General University Hospital in Prague ; University Hospital Motol ;
Condition / Disease:
45,X
Publication:
Biomedical Papers v166.1 p63-67
Year:
2022
ORPHAcode / other:
ORPHA881
DOI:
10.5507/bp.2020.060
Keywords:
Turner syndrome,chromosome X origin,haplotype,imprinting,karyotype,phenotype
Artificial Sepsis: Think Twice Before Pausing Therapy
Author(s):
Mathew A, Führer D, Lahner H
Affiliated Institution / ERN:
ERN BOND ; University Hospital Essen ;
Condition / Disease:
Pancreatic neuroendocrine tumour
Publication:
The American Journal of Medicine v135.3 pe73-e74
Year:
2022
ORPHAcode / other:
ORPHA97253
Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency
Author(s):
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Primary Ovarian Insufficiency
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.3 p685-714
Year:
2022
ORPHAcode / other:
ORPHA95709
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study
Author(s):
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken A, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE
Affiliated Institution / ERN:
IRCCS Auxologico Italian Institute - Milan ; Semmelweis University ; Universitätsklinikum Düsseldorf ; AO City of Health and Science - Turin ; AOU Federico II - Naples ; Erasmus MC: University Medical Center Rotterdam ; Clinical Psychiatric Hospital "Alexandru Obregia" ; CHU d'Angers ;
Condition / Disease:
MCT8 deficiency
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.3 pe1136-e1147
Year:
2022
ORPHAcode / other:
ORPHA59
DOI:
10.1210/clinem/dgab750
Keywords:
AHDS,Allan-Herndon-Dudley syndrome,MCT8 deficiency,T3 analogue,thyromimetic drug
The Accuracy of Simple and Adjusted Aldosterone Indices for Assessing Selectivity and Lateralization of Adrenal Vein Sampling in the Diagnosis of Primary Aldosteronism Subtypes
Author(s):
Parasiliti-Caprino M, Bioletto F, Ceccato F, Lopez C, Bollati M, Di Carlo MC, Voltan G, Rossato D, Giraudo G, Scaroni C, Ghigo E, Maccario M
Affiliated Institution / ERN:
Medical University of Vienna,Center for Rare Diabetes and Congenital Hyperinsulinism / Dpt. of Pedia ; AO City of Health and Science - Turin ; University Hospital of Padova ;
Condition / Disease:
Primary aldosteronism
Publication:
Frontiers in Endocrinology v13
Year:
2022
ORPHAcode / other:
ORPHA181415
DOI:
10.3389/fendo.2022.801529
Keywords:
adrenal glands,adrenal tumor,adrenalectomy,aldosterone,cortisol,endocrine hypertension,hypokalemia,secondary hypertension
Atrial Fibrillation and Aortic Ectasia as Complications of Primary Aldosteronism: Focus on Pathophysiological Aspects
Author(s):
Bollati M, Lopez C, Bioletto F, Ponzetto F, Ghigo E, Maccario M, Parasiliti-Caprino M
Affiliated Institution / ERN:
Condition / Disease:
Primary aldosteronism
Publication:
International Journal of Molecular Sciences v23.4 p2111
Year:
2022
ORPHAcode / other:
ORPHA181415
DOI:
10.3390/ijms23042111
Keywords:
adrenal glands,aldosterone,aortic ectasia,atrial fibrillation,cardiovascular risk,endocrine hypertension,hypokalemia,primary aldosteronism,secondary hypertension
Management recommendations for pancreatic manifestations of von Hippel–Lindau disease
Author(s):
Laks S, van Leeuwaarde R, Patel D, Keutgen XM, Hammel P, Nilubol N, Links TP, Halfdanarson TR, Daniels AB, Tirosh A
Affiliated Institution / ERN:
University Medical Center Groningen ;
Condition / Disease:
VHL Syndrome
Publication:
Cancer v128.3 p435-446
Year:
2022
ORPHAcode / other:
ORPHA892
DOI:
10.1002/cncr.33978
Keywords:
neuroendocrine tumor,pancreas,recommendations,surveillance,von Hippel-Lindau
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes
Author(s):
Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL, Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R, Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M, Belaud-Rotureau M, Touraine P, Jaillard S, Sinclair AH
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Cochin ;
Condition / Disease:
Premature ovarian insufficiency
Publication:
European Journal of Human Genetics v30.2 p219-228
Year:
2022
ORPHAcode / other:
ORPHA95710
Función tiroidea en el recién nacido prematuro con edad gestacional igual o menor a 32 semanas
Author(s):
Montaner-Ramón A, Hernández-Pérez S, Campos-Martorell A, Ballesta-Anguiano M, Clemente-León M, Castillo- Salinas F
Affiliated Institution / ERN:
Condition / Disease:
Thyroid dysfunction and prematurity
Publication:
Anales de Pediatría v96.2 p130-137
Year:
2022
ORPHAcode / other:
KB64
DOI:
10.1016/j.anpedi.2020.10.023
Keywords:
Función tiroidea,Pequeño para la edad gestacional,Prematuridad,Prematurity,Small for gestational age,Thyroid function,Thyrotropin,Thyroxine,Tirotropina,Tiroxina
Congenital Micropenis: Etiology And Management
Author(s):
Stancampiano MR, Suzuki K, O’Toole S, Russo G, Yamada G, Faisal Ahmed S
Affiliated Institution / ERN:
San Raffaele hospital - Milan ; Leiden University Medical Center ;
Condition / Disease:
Micropenis
Publication:
Journal of the Endocrine Society v6.2
Year:
2022
ORPHAcode / other:
Pubertal development in 46,XY patients with NR5A1 mutations
Author(s):
Mönig I, Schneidewind J, Johannsen TH, Juul A, Werner R, Lünstedt R, Birnbaum W, Marshall L, Wünsch L, Hiort O
Affiliated Institution / ERN:
Universitätsklinikum Schleswig-Holstein ; Copenhagen University Hospital, Rigshospitalet ;
Condition / Disease:
Disorder of gonadal development
Publication:
Endocrine v75.2 p601-613
Year:
2022
ORPHAcode / other:
ORPHA325118
DOI:
10.1007/s12020-021-02883-y
Keywords:
Differences of sex development,NR5A1 mutation,Pubertal development,Virilization
Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes
Author(s):
Dusatkova P, Pavlikova M, Spirkova A, Elblova L, Zdarska DJ, Rozenkova K, Hron J, Sumnik Z, Cinek O, Lebl J, Pruhova S
Affiliated Institution / ERN:
Condition / Disease:
Monogenic diabetes
Publication:
Experimental and Clinical Endocrinology & Diabetes v130.02 p85-93
Year:
2022
ORPHAcode / other:
ORPHA99885
Vitamin D deficiency and tumor aggressiveness in gastroenteropancreatic neuroendocrine tumors
Author(s):
Altieri B, Barrea L, Modica R, Bottiglieri F, de Cicco F, Muscogiuri G, Circelli L, Savarese G, Di Somma C, Savastano S, Colao A, Faggiano A
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Publication:
Endocrine v75.2 p623-634
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s12020-021-02869-w
Keywords:
25(OH)D,MEN1,Neuroendocrine tumor,PTH,Prognosis,Somatostatin analogs,Vitamin D
Glucose control in home-isolated adults with type 1 diabetes affected by COVID-19 using continuous glucose monitoring
Author(s):
Longo M, Scappaticcio L, Petrizzo M, Castaldo F, Sarnataro A, Forestiere D, Caiazzo F, Bellastella G, Maiorino MI, Capuano A, Esposito K
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
Publication:
Journal of Endocrinological Investigation v45.2 p445-452
Year:
2022
ORPHAcode / other: