Endo-ERN Publications Database
948 publication(s) found matching the search criteria
Prevalence of lifetime eating disorders in infertile women seeking pregnancy with pulsatile gonadotropin-releasing hormone therapy
Author(s):
Barbosa-Magalhaes I, Corcos M, Galey J, Perdigao-Cotta S, Papastathi C, de Crecy M, Nicolas I, Lamas C, Christin-Maître S, Pham-Scottez A
Affiliated Institution / ERN:
Condition / Disease:
Kallmann Syndrome
Publication:
Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity v26.2 p709-715
Year:
2021
ORPHAcode / other:
ORPHA478
DOI:
10.1007/s40519-020-00893-9
Keywords:
Anorexia nervosa,Eating disorders,GnRH pulsatile treatment,Hypothalamic amenorrhea,Infertility
Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?
Author(s):
Ho K, Fleseriu M, Kaiser U, Salvatori R, Brue T, Lopes MB, Kunz P, Molitch M, Camper SA, Gadelha M, Syro LV, Laws E, Reincke M, Nishioka H, Grossman A, Barkan A, Casanueva F, Wass J, Mamelak A, Katznelson L, van der Lely AJ, Radovick S, Bidlingmaier M, Boguszewski M, Bollerslev J, Hoffman AR, Oyesiku N, Raverot G, Ben-Shlomo A, Fowkes R, Shimon I, Fukuoka H, Pereira AM, Greenman Y, Heaney AP, Gurnell M, Johannsson G, Osamura RY, Buchfelder M, Zatelli MC, Korbonits M, Chanson P, Biermasz N, Clemmons DR, Karavitaki N, Bronstein MD, Trainer P, Melmed S
Affiliated Institution / ERN:
Assistance Publique-Hôpitaux de Marseille ; Klinikum der Universität München ; Erasmus MC: University Medical Center Rotterdam ; Oslo University Hospital ; Hospices Civils de Lyon ; Leiden University Medical Center ; Sahlgrenska University Hospital ; AOU - Ferrara ; Hôpital Bicêtre ;
Condition / Disease:
Pituitary adenoma
Publication:
Journal of the Endocrine Society v5.3
Year:
2021
ORPHAcode / other:
ORPHA99408
Basal and stimulated calcitonin for the diagnosis of medullary thyroid cancer: updated thresholds and safety assessment
Author(s):
Fugazzola L, Di Stefano M, Censi S, Repaci A, Colombo C, Grimaldi F, Magri F, Pagotto U, Iacobone M, Persani L, Mian C
Affiliated Institution / ERN:
Reference centre for rare diseases of calcium and phosphate-HEGP ; Medical University of Vienna,Center for Rare Diabetes and Congenital Hyperinsulinism / Dpt. of Pedia ;
Condition / Disease:
Medullary thyroid carcinoma
Publication:
Journal of Endocrinological Investigation v44.3 p587-597
Year:
2021
ORPHAcode / other:
ORPHA1332
DOI:
10.1007/s40618-020-01356-9
Keywords:
Bradycardia,Calcitonin,Calcium test,Cut-off,Medullary thyroid cancer
Novel model to study the physiological effects of temporary or prolonged sex steroid deficiency in male mice
Author(s):
Kim NR, Khalil R, David K, Antonio L, Schollaert D, Deboel L, Van Herck E, Wardenier N, Cools M, Decallonne B, Claessens F, Dubois V, Vanderschueren D
Affiliated Institution / ERN:
UZ Leuven ; Ghent University Hospital ;
Condition / Disease:
Sex steroid deficiency
Publication:
American Journal of Physiology-Endocrinology and Metabolism v320.3 pE415-E424
Year:
2021
ORPHAcode / other:
DOI:
10.1152/ajpendo.00401.2020
Keywords:
body composition,bone,delayed puberty,hypogonadotropic hypogonadism,sex steroid deficiency
Possible protective role of metformin therapy on colonic polyps in acromegaly: an exploratory cross-sectional study
Author(s):
Albertelli M, Nazzari E, Dotto A, Grasso LF, Sciallero S, Pirchio R, Rebora A, Boschetti M, Pivonello R, Ricci Bitti S, Colao AAL, Ferone D
Affiliated Institution / ERN:
AOU Federico II - Naples ; IRCCS Ospedale Policlinico San Martino – Genova ;
Condition / Disease:
Acromegaly
Publication:
European Journal of Endocrinology v184.3 p419-425
Year:
2021
ORPHAcode / other:
ORPHA963
The prevalence of silent acromegaly in prolactinomas is very low
Author(s):
Bona C, Prencipe N, Jaffrain-Rea ML, Carosi G, Lanzi R, Ambrosio MR, Pasquali D, Vettor R, Cannavò S, Ghigo E, Grottoli S
Affiliated Institution / ERN:
Condition / Disease:
Acromegaly
Publication:
Journal of Endocrinological Investigation v44.3 p531-539
Year:
2021
ORPHAcode / other:
ORPHA963
DOI:
10.1007/s40618-020-01338-x
Keywords:
Cabergoline,Dopamine agonists,Prolactinoma,Silent acromegaly
New genetics in congenital hypothyroidism
Author(s):
Stoupa A, Kariyawasam D, Muzza M, de Filippis T, Fugazzola L, Polak M, Persani L, Carré A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine v71.3 p696-705
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s12020-021-02646-9
Keywords:
Congenital hypothyroidism,Dyshormonogenesis,Epigenetics,Genetics,Oligogenism,Thyroid dysgenesis
Impact of Long-Term Growth Hormone Replacement Therapy on Metabolic and Cardiovascular Parameters in Adult Growth Hormone Deficiency: Comparison Between Adult and Elderly Patients
Author(s):
Scarano E, Riccio E, Somma T, Arianna R, Romano F, Di Benedetto E, de Alteriis G, Colao A, Di Somma C
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Pituitary deficiency
Publication:
Frontiers in Endocrinology v12
Year:
2021
ORPHAcode / other:
ORPHA101957
DOI:
10.3389/fendo.2021.635983
Keywords:
cardiovascular,elderly,growth hormone (GH) treatment,hypopituitarism,metabolism
Patient’s view on better care
Author(s):
Beun, Kristensen, Brosamle,van den Berg
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Rare endocrine disease: Still a long and a winding road
Author(s):
Sebastiano Filetti
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis
Author(s):
Nicole Reisch, Hanna Nowotny, Faisal Ahmed, Sophie Bensing, Johan G Beun, Manuela Brösamle, Irina Chifu, Hedi Claahsen-van der Grinten, Maria Clemente, Henrik Falhammar, Stefanie Hahner, Eystein Husebye, Jette Kristensen, Paola Loli, Svetlana Lajic
Affiliated Institution / ERN:
Bergen Hospital Trust ;
Condition / Disease:
Adrenal Insufficiency
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA101958; ORPHA101959; ORPHA418;
DOI:
10.1007/s12020-021-02649-6
Keywords:
Adrenal crisis; Adrenal insufficiency; Congenital adrenal hyperplasia; Glucocorticoid replacement; Hydrocortisone; Stress instructions;
Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment
Author(s):
van Geest F, Groeneweg S, Visser E
Affiliated Institution / ERN:
Condition / Disease:
MCT8 deficiency
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA101952
New genetics in congenital hypothyrodism
Author(s):
Stoupa A, Polak M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Access to patient oriented information—a baseline Endo-ERN survey among patients with rare endocrine disorders
Author(s):
Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, De Graaf J, Bratina N, Tillmann V, Pereira AM, Hiort O
Affiliated Institution / ERN:
UMHAT “Sveta Marina” (Varna) ; Helsinki University Hospital (HUS) ; Leiden University Medical Center ; University Medical Centre Ljubljana ; Tartu University Hospital ; Universitätsklinikum Schleswig-Holstein ;
Condition / Disease:
Rare endocrine conditions
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA97978
DOI:
10.1007/s12020-021-02654-9
Keywords:
Education; Endo-ERN; European patient advocacy group; Parents/caregivers; Patients; Rare endocrine disease;
Update on primary bilateral macronodular adrenal hyperplasia (PBMAH)
Author(s):
Bouys L, Chiodini I, Arlt W, Reincke M, Bertherat J
Affiliated Institution / ERN:
Condition / Disease:
Primary bilateral macronodular adrenal hyperplasia
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA189427
DOI:
10.1007/s12020-021-02645-w
Keywords:
ARMC5; Cushing syndrome; GPCR; PBMAH; Primary bilateral macronodular adrenal hyperplasia; illegitimate receptors;
Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes
Author(s):
Butz H, Blair J, Patócs A
Affiliated Institution / ERN:
Semmelweis University ;
Condition / Disease:
Endocrine tumour syndromes
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA100094
DOI:
10.1007/s12020-021-02636-x
Keywords:
Endocrine tumour syndromes; Genetic testing; Inherited tumour; Next-generation sequencing
Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity
Author(s):
Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, Danne T, Vettor R, Milan G, Maffei P
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Endo ERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases
Author(s):
Webb SM, Kristensen J, Vitali D, van Klink S, van Beuzekom C, Santos A, Nordenström A
Affiliated Institution / ERN:
Hospital de la Santa Creu i Sant Pau ; Leiden University Medical Center ; Karolinska University Hospital ;
Condition / Disease:
Rare endocrine conditions
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA97978
DOI:
10.1007/s12020-021-02625-0
Keywords:
EndoERN, Quality of life; Patient perception; Quality of care; Rare endocrine diseases; Survey;
Hypercalcemia during pregnancy: management and outcomes for mother and child
Author(s):
Appelman-Dijkstra NM, Ertl DA, Carola Zillikens M, Rjenmark L, Winter EM
Affiliated Institution / ERN:
Leiden University Medical Center ; Erasmus MC: University Medical Center Rotterdam ; Aarhus University Hospital ;
Condition / Disease:
Primary hyperparathyroidism, Familial hypocalciuric hypercalcemia
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA405
DOI:
10.1007/s12020-021-02615-2
Keywords:
Familial hypocalciuric hypercalcemia; Hypercalcemia; Parathyromatosis; Pregnancy; Primary hyperparathyroidism;
The clinical aspects of pituitary tumour genetics
Author(s):
Dénes J, Korbonits M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research
Author(s):
de Graaf JP, de Vries F, Dirkson A, Hiort O, Pereira AM, Korbonits M, Cools M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Year:
2021
ORPHAcode / other:
Patients’ perception on the quality of care for multiple endocrine neoplasia disorders in Europe: an online survey from a patient support group
Author(s):
Drewitz KP, Grey J, Brügmann P, Pichl J, Sammarco M, Aarts M, van Genechten D, Brandi M, Schaaf L
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
CPMS–improving patient care in Europe via virtual case discussions
Author(s):
Mönig I, Steenvoorden D, de Graaf JP, Ahmed SF, Taruscio D, Beun JG, Johannsen TH, Juul A, Hiort O, Pereira AM
Affiliated Institution / ERN:
Condition / Disease:
CPMS
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
DOI:
10.1007/s12020-021-02628-x
Keywords:
Clinical Patient Management System (CPMS); European Reference Network on Rare Endocrine Conditions (Endo-ERN); Health care inequalities; Virtual consultation;
Rare diseases caused by abnormal calcium sensing and signalling
Author(s):
Tőke J, Czirják G, Enyedi P, Tóth M
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance
Author(s):
Geberhiwot T, Baig S, Obringer C, Girard D, Dawson C, Manolopoulos K, Messaddeq N, Bel Lassen P, Clement K, Tomlinson JW, Steeds RP, Dollfus H, Petrovsky N, Marion V
Affiliated Institution / ERN:
Condition / Disease:
Alström syndrome
Publication:
Diabetes v70.2 p364-376
Year:
2021
ORPHAcode / other:
ORPHA64
DOI:
10.2337/db20-0647
Keywords:
adipocyte-driven IR; obesity; AT-targeted; therapeutic strategies;diabetes;
Socioeconomic status in patients with Turner syndrome
Author(s):
Noordman ID, van der Velden JA, Timmers HJ, Reisch N, Richter-Unruh A, Pienkowksi C, Roeleveld N, Claahsen-van der Grinten HL
Affiliated Institution / ERN:
Radboud University Medical Centre Nijmegen ; Klinikum der Universität München ; Katholisches Klinikum Bochum ; CHU de Toulouse ;
Condition / Disease:
45,X
Publication:
Comprehensive Psychoneuroendocrinology v5 p100030
Year:
2021
ORPHAcode / other:
ORPHA881
Characterization with hybrid imaging of cystic pheochromocytomas: correlation with pathology
Author(s):
Galatola R, Romeo V, Simeoli C, Guadagno E, Rosa ID, Basso L, Mainolfi C, Klain M, Nicolai E, Colao A, Maurea S, Salvatore M
Affiliated Institution / ERN:
National Institute of Children's Diseases ;
Condition / Disease:
Cystic pheochromocytomas
Publication:
Quantitative Imaging in Medicine and Surgery v11.2 p862-869
Year:
2021
ORPHAcode / other:
ORPHA573163
Real-World Performance of the American Thyroid Association Risk Estimates in Predicting 1-Year Differentiated Thyroid Cancer Outcomes: A Prospective Multicenter Study of 2000 Patients
Author(s):
Grani G, Zatelli MC, Alfò M, Montesano T, Torlontano M, Morelli S, Deandrea M, Antonelli A, Francese C, Ceresini G, Orlandi F, Maniglia CA, Bruno R, Monti S, Santaguida MG, Repaci A, Tallini G, Fugazzola L, Monzani F, Giubbini R, Rossetto R, Mian C, Crescenzi A, Tumino D, Pagano L, Pezzullo L, Lombardi CP, Arvat E, Petrone L, Castagna MG, Spiazzi G, Salvatore D, Meringolo D, Solaroli E, Monari F, Magri F, Triggiani V, Castello R, Piazza C, Rossi R, Ferraro Petrillo U, Filetti S, Durante C
Affiliated Institution / ERN:
AOU Policlinico Umberto I - Rome ; AOU - Ferrara ; AO City of Health and Science - Turin ; AOU Pisan ; AOU-Bologna ; AOU Federico II - Naples ; AOUI Verona ; IRCCS Auxologico Italian Institute - Milan ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
Thyroid v31.2 p264-271
Year:
2021
ORPHAcode / other:
ORPHA146
DOI:
10.1089/thy.2020.0272
Keywords:
clinical practice,differentiated thyroid cancer,evidence-based guidelines,risk stratification
Puberty and fertility in classic galactosemia
Author(s):
Flechtner I, Viaud M, Kariyawasam D, Perrissin-Fabert M, Bidet M, Bachelot A, Touraine P, Labrune P, de Lonlay P, Polak M
Affiliated Institution / ERN:
Hospital Universitario Cruces ; ERN BOND ;
Condition / Disease:
Galactosemia
Publication:
Endocrine Connections v10.2 p240-247
Year:
2021
ORPHAcode / other:
ORPHA352
Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome
Author(s):
Reschke F, Rohayem J, Maffei P, Dassie F, Schwandt A, de Beaufort C, Toni S, Szypowska A, Cardona-Hernandez R, Datz N, Klee K, Danne T
Affiliated Institution / ERN:
Hannoversche Kinderheilanstalt ; University Hospital of Padova ; Ulm University Medical Center ; Klinikum der Universität München ; Centre Hospitalier de Luxembourg ; Meyer Children’s Hospital Florence ; Sant Joan de Déu Hospital ;
Condition / Disease:
Wolfram Syndrome
Publication:
Endocrine 2021(2)
Year:
2021
ORPHAcode / other:
ORPHA3463
DOI:
10.1007/s12020-021-02622-3
Keywords:
Clinical research collaboration; ENDO-ERN; Monogenetic diabetes; Rare disease network; Wolfram syndrome; ENDO-ERN; Monogenetic diabetes; Rare disease network; Wolfram syndrome;