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Endo ERN
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/ Publications Overview / Publications Database

Endo-ERN Publications Database

RDD IssuesBack to Publications Overview

Filter list of publications

890 publication(s) found matching the search criteria

MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia


Author(s): Claahsen-van der Grinten HL, Stikkelbroeck N, Falhammar H, Reisch N
Affiliated Institution / ERN: Radboud University Medical Centre Nijmegen ; Karolinska University Hospital ; Klinikum der Universität München ;
Condition / Disease: Congenital Adrenal Hyperplasia
Publication: European Journal of Endocrinology v184.3 pR85-R97 Year: 2021 ORPHAcode / other: ORPHA418
DOI: 10.1530/EJE-20-1093 Keywords:
MTG7

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
MTG7

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
MTG7

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
DOI: 10.1210/jendso/bvaa205 Keywords: Pituitary neoplasm,neuroendocrine,pituitary adenoma,tumor
MTG6

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
MTG8

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
DOI: 10.1530/EJE-20-0795 Keywords:
MTG6

Functional Prognostic value of optical coherence tomography in optic chiasmal decompression: A preliminary study


Author(s): Mambour N, Maiter D, Duprez T, Costa E, Fomekong E, Raftopoulos C, Bugli C, Boschi A
Affiliated Institution / ERN: University Hospitals Saint-Luc ;
Condition / Disease: Sellar and parasellar tumours
Publication: Journal Français d'Ophtalmologie v44.3 p321-330 Year: 2021 ORPHAcode / other: ORPHA99408, ORPHA54595, ORPHA2495
DOI: 10.1016/j.jfo.2020.06.041 Keywords: Chiasmal compression,Compression chiasmatique,Functional predictive value,Ganglion Cell Complex,Optical coherence tomography,Récupération visuelle,Seuil,Threshold,Valeur prédictive fonctionnelle,Visual recovery
MTG6

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
MTG6

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
MTG8

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
MTG6

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:
DOI: 10.1007/s12020-021-02653-w Keywords:

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:
DOI: Keywords:

New genetics in congenital hypothyrodism


Author(s): Stoupa A, Polak M
Affiliated Institution / ERN:
Condition / Disease:
Publication: Endocrine 2021(2) Year: 2021 ORPHAcode / other:
DOI: Keywords:
MTG8

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
DOI: 10.1007/s12020-020-02603-y Keywords: MCT8 deficiency; Thyroid hormone signalling; Treatment;
MTG8

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;
MTG1

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;
MTG1 MTG2 MTG3 MTG4 MTG5 MTG6 MTG7 MTG8

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;
MTG1

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
MTG4

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:
DOI: 10.1007/s12020-021-02643-y Keywords:
MTG3

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;
MTG1 MTG2 MTG3 MTG4 MTG5 MTG6 MTG7 MTG8

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;
MTG2

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:
DOI: Keywords:
MTG6

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:
DOI: Keywords:

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:
DOI: 10.1007/s12020-021-02637-w Keywords:
MTG4

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:
DOI: 10.1007/s12020-021-02620-5 Keywords:
MTG2

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;
MTG5

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
DOI: 10.1016/j.cpnec.2021.100030 Keywords: Karyotype,Socioeconomic status,Turner syndrome
MTG7

Levoketoconazole improves clinical signs and symptoms and patient-reported outcomes in patients with Cushing’s syndrome


Author(s): Geer EB, Salvatori R, Elenkova A, Fleseriu M, Pivonello R, Witek P, Feelders RA, Bex M, Borresen SW, Puglisi S, Biller BMK, Cohen F, Pecori Giraldi F
Affiliated Institution / ERN: AOU Federico II - Naples ; Evangelismos General Hospital ;
Condition / Disease: Cushing’s Syndrome
Publication: Pituitary v24.1 p104-115 Year: 2021 ORPHAcode / other: ORPHA553
DOI: 10.1007/s11102-020-01103-6 Keywords: Cushing’s disease,Cushing’s syndrome,Hypercortisolism,Quality of life,Steroidogenesis inhibitor
MTG1 MTG6

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
DOI: 10.21037/qims-20-490 Keywords:
MTG1 MTG4
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