Endo-ERN Publications Database
940 publication(s) found matching the search criteria
New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study
Author(s):
Gambineri A, Scarano E, Rucci P, Perri A, Tamburrino F, Altieri P, Corzani F, Cecchetti C, Dionese P, Belardinelli E, Ibarra-Gasparini D, Menabò S, Vicennati V, Repaci A, di Dalmazi G, Pelusi C, Zavatta G, Virdi A, Neri I, Fanelli F, Mazzanti L, Pagotto U
Affiliated Institution / ERN:
AOU-Bologna ;
Condition / Disease:
Chromosomal DSD
Publication:
Journal of Endocrinological Investigation v45.12 p2247-2256
Year:
2022
ORPHAcode / other:
ORPHA881
DOI:
10.1007/s40618-022-01853-z
Keywords:
Cancer,Cardiovascular events,Osteoporosis,Turner syndrome,Type 2 diabetes
Testosterone in men with hypogonadism and transgender males: a systematic review comparing three different preparations
Author(s):
Madsen MC, Heijer MD, Pees C, Biermasz NR, Bakker LEH
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine Connections doi.org/10.1530/EC-22-0112
Year:
2022
ORPHAcode / other:
Health-related quality of life in patients with neuroendocrine neoplasms: a two-wave longitudinal study
Author(s):
Modica R, Scandurra C, Maldonato NM, Dolce P, Dipietrangelo GG, Centello R, Di Vito V, Giannetta E, Isidori AM, Lenzi A, Faggiano A, Colao A
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
MEN Type 1
Publication:
Journal of Endocrinological Investigation v45.11 p2193-2200
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s40618-022-01872-w
Keywords:
HRQoL,Metastases,Neuroendocrine tumor,Quality of life,Resilience,Severity
Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects
Author(s):
Kummer S, Rinné S, Seemann G, Bachmann N, Timothy K, Thornton PS, Pillekamp F, Mayatepek E, Bergmann C, Meissner T, Decher N
Affiliated Institution / ERN:
Universitätsklinikum Düsseldorf ; Charité Universitätsmedizin Berlin ;
Condition / Disease:
Diazoxide-sensitive diffuse hyperinsulinism
Publication:
International Journal of Molecular Sciences v23.15 p8097
Year:
2022
ORPHAcode / other:
ORPHA165985
Tumor-Induced Osteomalacia: A Systematic Clinical Review of 895 Cases
Author(s):
Bosman A, Palermo A, Vanderhulst J, De Beur SMJ, Fukumoto S, Minisola S, Xia W, Body J, Zillikens MC
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ;
Condition / Disease:
Oncogenic Osteomalacia
Publication:
Calcified Tissue International v111.4 p367-379
Year:
2022
ORPHAcode / other:
ORPHA352540
DOI:
10.1007/s00223-022-01005-8
Keywords:
FGF23,Fracture,Hypophosphatemia,Osteomalacia,Rickets,Tumor-induced osteomalacia
MKRN3 circulating levels in Prader–Willi syndrome: a pilot study
Author(s):
Mariani M, Fintini D, Cirillo G, Palumbo S, del Giudice EM, Bocchini S, Manco M, Cappa M, Grandone A
Affiliated Institution / ERN:
AOU University of Campania "Luigi Vanvitelli", Naples ;
Condition / Disease:
Prader Willi Syndrome and Prader Willi-like Syndrome
Publication:
Journal of Endocrinological Investigation v45.11 p2165-2170
Year:
2022
ORPHAcode / other:
The dopaminergic control of Cushing’s syndrome
Author(s):
Pivonello R, Pivonello C, Simeoli C, De Martino MC, Colao A
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Adrenal Cushing syndrome
Publication:
Journal of Endocrinological Investigation v45.7 p1297-1315
Year:
2022
ORPHAcode / other:
ORPHA647758
DOI:
10.1007/s40618-021-01661-x
Keywords:
Cabergoline,Cushing’s disease,Cushing’s syndrome,Dopamine,Dopaminergic system
Five-Year Changes in Weight and Diabetes Status After Bariatric Surgery for Craniopharyngioma-Related Hypothalamic Obesity: a Case–Control Study
Author(s):
Faucher P, Carette C, Jannot A, Gatta-Cherifi B, Van Straaten A, Piquet M, Raverot G, Alligier M, Batisse T, Ziegler O, Drui D, Bretault M, Farigon N, Slim K, Genser L, Poghosyan T, Vychnevskaia K, Blanchard C, Robert M, Gronnier C, Poitou C, Czernichow S
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Craniopharyngioma
Publication:
Obesity Surgery v32.7 p2321-2331
Year:
2022
ORPHAcode / other:
ORPHA54595
DOI:
10.1007/s11695-022-06079-9
Keywords:
Bariatric surgery,Case–control study,Craniopharyngioma,Hypothalamic obesity,Type 2 diabetes,Weight loss
Body composition and obstructive sleep apnoea assessment in adult patients with Prader–Willi syndrome: a case control study
Author(s):
Pugliese G, Barrea L, Sanduzzi Zamparelli A, de Alteriis G, Laudisio D, Muscogiuri G, Canora A, Bocchino M, Colao A, Savastano S
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Prader Willi Syndrome and Prader Willi-like Syndrome
Publication:
Journal of Endocrinological Investigation v45.10 p1967-1975
Year:
2022
ORPHAcode / other:
ORPHA739
DOI:
10.1007/s40618-022-01831-5
Keywords:
Body composition,Genetic obesity,Obstructive sleep apnoea,Prader–Willi syndrome,Sleep-breathing disorder
Computerized tomography texture analysis of pheochromocytoma: relationship with hormonal and histopathological data
Author(s):
De Leo A, Vara G, Paccapelo A, Balacchi C, Vicennati V, Tucci L, Pagotto U, Selva S, Ricci C, Alberici L, Minni F, Nanni C, Ambrosi F, Santini D, Golfieri R, Di Dalmazi G, Mosconi C
Affiliated Institution / ERN:
AOU-Bologna ;
Condition / Disease:
Sporadic PCC/secreting PGL
Publication:
Journal of Endocrinological Investigation v45.10 p1935-1944
Year:
2022
ORPHAcode / other:
ORPHA276621
DOI:
10.1007/s40618-022-01826-2
Keywords:
Adrenal,Computed tomography,Pheocromocytoma,Radiomics,Texture analysis
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
Sex differences in carcinoid syndrome: A gap to be closed
Author(s):
Ruggeri RM, Altieri B, Grossrubatcher E, Minotta R, Tarsitano MG, Zamponi V, MIsidori A, Faggiano A, Colao AM
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Publication:
Reviews in Endocrine and Metabolic Disorders v23.3 p659-669
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s11154-022-09719-8
Keywords:
Carcinoid syndrome,Epidemiology,Gender difference,Neuroendocrine tumours,Serotonin pathway,Sex
Diagnostic Performance of 124I-Metaiodobenzylguanidine PET/CT in Patients with Pheochromocytoma
Author(s):
Weber M, Schmitz J, Maric I, Pabst K, Umutlu L, Walz M, Herrmann K, Rischpler C, Weber F, Jentzen W, Theurer S, Poeppel TD, Unger N, Fendler WP
Affiliated Institution / ERN:
Children's Clinical University Hospital, Riga ;
Condition / Disease:
Pheochromocytoma-paraganglioma
Publication:
Journal of Nuclear Medicine v63.6 p869-874
Year:
2022
ORPHAcode / other:
ORPHA573163
Psychological stress, emotions, and quality of life in men and women with congenital adrenal hyperplasia
Author(s):
Lašaitė L, Navardauskaitė R, Semėnienė K, Verkauskienė R
Affiliated Institution / ERN:
Hospital of Lithuanian University of Health Sciences Kauno Klinikos ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
Journal of Endocrinological Investigation v45.10 p1925-1934
Year:
2022
ORPHAcode / other:
ORPHA418
DOI:
10.1007/s40618-022-01824-4
Keywords:
Congenital adrenal hyperplasia,Emotional state,Perceived stress,Quality of life
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
Development and validation of a preoperative “difficulty score” for laparoscopic transabdominal adrenalectomy: a multicenter retrospective study
Author(s):
Alberici L, Paganini AM, Ricci C, Balla A, Ballarini Z, Ortenzi M, Casole G, Quaresima S, Di Dalmazi G, Ursi P, Alfano MS, Selva S, Casadei R, Ingaldi C, Lezoche G, Guerrieri M, Minni F, Tiberio GAM
Affiliated Institution / ERN:
AOU-Bologna ;
Condition / Disease:
Publication:
Surgical Endoscopy v36.5 p3549-3557
Year:
2022
ORPHAcode / other:
DOI:
10.1007/s00464-021-08678-6
Keywords:
Difficulty score,Laparoscopic adrenalectomy,Postoperative complications
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
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
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
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
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 ; Motol and Homolka University Hospital ;
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
Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case–Control Study of 105 Patients
Author(s):
Cooiman MI, Alsters SIM, Duquesnoy M, Hazebroek EJ, Meijers-Heijboer HJ, Chahal H, Le Beyec-Le Bihan J, Clément K, Soula H, Blakemore AI, Poitou C, van Haelst MM
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ;
Condition / Disease:
Rare Genetic Obesity
Publication:
Obesity Surgery v32.3 p837-844
Year:
2022
ORPHAcode / other:
ORPHA77828