Endo-ERN Publications Database
481 publication(s) found matching the search criteria
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:
Condition / Disease:
Publication:
Endocrine Connections v11.5
Year:
2022
ORPHAcode / other:
DOI:
10.1530/ec-22-0025
Keywords:
adolescent,endocrinology,paediatrics,transition to adult care,young adult
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:
Condition / Disease:
Publication:
European Journal of Endocrinology 186(6):G9-G49. doi: 10.1530/EJE-22-0073
Year:
2022
ORPHAcode / other:
Graves’ Disease in the Young: Could We Change the Weather?
Author(s):
Rodien P
Affiliated Institution / ERN:
IRCCS Ospedale Policlinico San Martino – Genova ;
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
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:
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
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:
Condition / Disease:
Publication:
Endocrine Connections doi.org/10.1530/EC-22-0082
Year:
2022
ORPHAcode / other:
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
Artificial Sepsis: Think Twice Before Pausing Therapy
Author(s):
Mathew A, Führer D, Lahner H
Affiliated Institution / ERN:
ERN EURACAN ; University Hospital Essen ;
Condition / Disease:
Pancreatic neuroendocrine tumour
Publication:
The American Journal of Medicine v135.3 pe73-e74
Year:
2022
ORPHAcode / other:
ORPHA97253
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 ;
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
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:
Condition / Disease:
Phaeochromocytoma and paraganglioma
Publication:
European Journal of Endocrinology v186.3 p399-406
Year:
2022
ORPHAcode / other:
ORPHA573163
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:
Helsinki University Hospital (HUS) ;
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:
Universitätsklinikum Schleswig-Holstein ; UZ Brussels ; National Institute of Children's Diseases ;
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 ;
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
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:
Complejo Hospitalario Regional Virgen del Rocio ;
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
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:
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
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
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:
Low-Iodine Diet of 4 Days Is Sufficient Preparation for 131I Therapy in Differentiated Thyroid Cancer Patients
Author(s):
Dekker BL, Links MH, Muller Kobold AC, Swart-Busscher LG, Kars M, Bons JAP, Brouwers AH, Links TP, van der Horst-Schrivers ANA
Affiliated Institution / ERN:
University Hospital Essen ; Ulm University Medical Center ;
Condition / Disease:
Follicular thyroid carcinoma
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.2 pe604-e611
Year:
2022
ORPHAcode / other:
ORPHA146
DOI:
10.1210/clinem/dgab691
Keywords:
individual perceptions,iodine intake,low-iodine diet,nutrition diary,radioactive iodine therapy,urinary iodine excretion
Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa
Author(s):
Gordon DM, Beckers P, Castermans E, Neggers SJCMM, Rostomyan L, Bours V, Petrossians P, Dideberg V, Beckers A, Daly AF
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; University Hospital Liège ;
Condition / Disease:
Pheochromocytoma-paraganglioma
Publication:
Endocrine Connections v11.1
Year:
2022
ORPHAcode / other:
ORPHA573163
DOI:
10.1530/EC-21-0560
Keywords:
Dutch,Netherlands,SDHB,South Africa,founder mutation,paraganglioma,pheochromocytoma
State of the art and future directions in the systemic treatment of medullary thyroid cancer
Author(s):
Jager EC, Broekman KE, Kruijff S, Links TP
Affiliated Institution / ERN:
Condition / Disease:
Medullary thyroid carcinoma
Publication:
Current Opinion in Oncology v34.1 p1-8
Year:
2022
ORPHAcode / other:
ORPHA1332
Type 1 diabetes technology management traps in a pediatric patient: not all that glitters is gold
Author(s):
Piccini B, Casalini E, Macucci C, Toni S
Affiliated Institution / ERN:
Condition / Disease:
Type 1 Diabetes Mellitus
Publication:
Acta Diabetologica v59.1 p137-141
Year:
2022
ORPHAcode / other:
5A10
DOI:
10.1007/s00592-021-01781-z
Keywords:
Advanced hybrid closed loop,Children,Diabetes technology,Type 1 diabetes
The Influence of DXA Hardware, Software, Reference Population and Software Analysis Settings on the Bone Mineral Density and T-Score Relationship
Author(s):
Lundstam K, Godang K, Pretorius M, Markwardt P, Hellström M, Bollerslev J, Heck A
Affiliated Institution / ERN:
Condition / Disease:
Publication:
Journal of Clinical Densitometry v25.1 p24-33
Year:
2022
ORPHAcode / other:
DOI:
10.1016/j.jocd.2021.07.002
Keywords:
BMD,hardware,reference population,settings,software,t-score
Streptozocin/5-fluorouracil chemotherapy of pancreatic neuroendocrine tumours in the era of targeted therapy
Author(s):
Lahner H, Mathew A, Klocker AL, Unger N, Theysohn J, Rekowski J, Jöckel K, Theurer S, Schmid KW, Herrmann K, Führer D
Affiliated Institution / ERN:
Children's Clinical University Hospital, Riga ;
Condition / Disease:
Pancreatic neuroendocrine tumour
Publication:
Endocrine v75.1 p293-302
Year:
2022
ORPHAcode / other:
ORPHA97253
DOI:
10.1007/s12020-021-02859-y
Keywords:
5-fluorouracil,Objective response,Pancreatic neuroendocrine tumor,Streptozocin,Survival
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity
Author(s):
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL
Affiliated Institution / ERN:
Máxima Medisch Centrum Veldhoven ; National Institute of Children's Diseases ; Azienda USL-IRCCS di Reggio Emilia ;
Condition / Disease:
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.1 pe401-e416
Year:
2022
ORPHAcode / other:
DOI:
10.1210/clinem/dgab550
Keywords:
GHR 6Ω pseudoexon; growth hormone insensitivity; severe primary IGF-1 deficiency; short stature
Production of 11-Oxygenated Androgens by Testicular Adrenal Rest Tumors
Author(s):
Schröder MAM, Turcu AF, O’Day P, van Herwaarden AE, Span PN, Auchus RJ, Sweep FCGJ, Claahsen-van der Grinten HL
Affiliated Institution / ERN:
Sestre milosrdnice University Hospital Center ;
Condition / Disease:
Congenital Adrenal Hyperplasia
Publication:
The Journal of Clinical Endocrinology & Metabolism v107.1 pe272-e280
Year:
2022
ORPHAcode / other:
ORPHA418
Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation
Author(s):
Mooij CF, Tacke CE, van Albada ME, Barthlen W, Bikker H, Mohnike K, Oomen MW, van Trotsenburg AP, Zwaveling-Soonawala N
Affiliated Institution / ERN:
University Hospital Essen ; São João University Hospital(CHUSJ) ;
Condition / Disease:
Congenital isolated hyperinsulinism
Publication:
Annals of Pediatric Endocrinology & Metabolism v26.4 p278-283
Year:
2021
ORPHAcode / other:
ORPHA657
DOI:
10.6065/apem.2142010.005
Keywords:
Congenital hyperinsulinism,Pancreatectomy,Pasireotide,Somatostatin analogue
Multiple hormonal and metabolic deficiency syndrome predicts outcome in heart failure: the T.O.S.CA. Registry
Author(s):
Cittadini A, Salzano A, Iacoviello M, Triggiani V, Rengo G, Cacciatore F, Maiello C, Limongelli G, Masarone D, Perticone F, Cimellaro A, Perrone Filardi P, Paolillo S, Mancini A, Volterrani M, Vriz O, Castello R, Passantino A, Campo M, Modesti PA, De Giorgi A, Monte IP, Puzzo A, Ballotta A, D’Assante R, Arcopinto M, Gargiulo P, Sciacqua A, Bruzzese D, Colao A, Napoli R, Suzuki T, Eagle KA, Ventura HO, Marra AM, Bossone E
Affiliated Institution / ERN:
AOU Federico II - Naples ;
Condition / Disease:
Hormone deficiency
Publication:
European Journal of Preventive Cardiology v28.15 p1691-1700
Year:
2021
ORPHAcode / other:
5B3Z
DOI:
10.1093/eurjpc/zwab020
Keywords:
Anabolic deficiency,Heart failure,Hormones,Multiple hormonal and metabolic deficiency syndrome,Prognosis,TOSCA
Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients
Author(s):
Frontino G, Raouf T, Canarutto D, Tirelli E, Di Tonno R, Rigamonti A, Cascavilla ML, Baldoli C, Scotti R, Leocani L, Huang S, Meschi F, Barera G, Broccoli V, Rossi G, Torchio S, Chimienti R, Bonfanti R, Piemonti L
Affiliated Institution / ERN:
Semmelweis University ;
Condition / Disease:
Wolfram syndrome
Publication:
Frontiers in Pediatrics v9
Year:
2021
ORPHAcode / other:
ORPHA3463
DOI:
10.3389/fped.2021.755365
Keywords:
GLP1 receptor agonists,Wolfram syndrome,Wolfram syndrome 1 (WFS1),liraglutide,monogenic diabetes,neurodegeneration
Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
Author(s):
Pellikaan K, Ben Brahim Y, Rosenberg AGW, Davidse K, Poitou C, Coupaye M, Goldstone AP, Høybye C, Markovic TP, Grugni G, Crinò A, Caixàs A, Eldar-Geva T, Hirsch HJ, Gross-Tsur V, Butler MG, Miller JL, van der Kuy PM, van den Berg SAA, Visser JA, van der Lely AJ, de Graaff LCG
Affiliated Institution / ERN:
Erasmus MC: University Medical Center Rotterdam ; Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpétrière ; Karolinska University Hospital ;
Condition / Disease:
Prader-Willi syndrome
Publication:
Journal of Clinical Medicine v10.24 p5781
Year:
2021
ORPHAcode / other:
ORPHA739
DOI:
10.3390/jcm10245781
Keywords:
Prader-Willi syndrome,estrogens,hypogonadism,hypothalamus,menstrual cycle,obesity,pituitary gland,puberty
