Endo-ERN

Rare endocrine conditions include too much, too little or inappropriate hormonal activity, hormone resistance, tumour growth in endocrine organs, or diseases with consequences for the endocrine system. The epidemiological distribution is highly variable from ultra-rare, rare, to low-prevalence conditions. Patients with a low-prevalence disorder may require highly specialised care from a multidisciplinary team led by an endocrinologist.

Endo-ERN has established eight main thematic groups covering the full spectrum of congenital and acquired conditions. These are: adrenal disorders; disorders of calcium and phosphate homeostasis; disorders of sex development and maturation; genetic disorders of glucose and insulin homeostasis; genetic endocrine tumour syndromes; disorders of growth and genetic obesity syndromes; pituitary disorders; and thyroid disorders.

The ERN builds on the work of several existing European networks, including those established through the European Society of Endocrinology (ESE) and European Society for Paediatric Endocrinology (ESPE), and those developed through COST Actions.

Endo-ERN aims to deliver improved diagnostic trajectories, treatment, quality of care and measurable outcome for patients with rare endocrine conditions by facilitating multidisciplinary and cross-border collaboration and education and by listening to the patient.

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Publications

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Below an overview is given of scientific publications related to Endo-ERN. Publications were obtained from the PubMed database. All publications where one of the authors has an affiliation link where "Endo-ERN" is mentioned, are added to the publication overview automatically. Updates are performed once a week.

Filter list publications

TitleAuthorsDateKeywordsIssue name
Reply to: the utility of gallium-68 PET/CT in MEN1 related parathyroid disease.Kostiainen I, Schildt J, Parviainen H, Ryhänen EM, Schalin-Jäntti C2024-07-02MEN1, PET, SSTR, parathyroidEuropean journal of endocrinology
Pegvisomant and pasireotide in PRL and GH co-secreting vs GH-secreting Pit-NETs.Araujo-Castro M, Biagetti B, Menéndez Torre E, Novoa-Testa I, Cordido F, Pascual-Corrales E, Rodríguez Berrocal V, Guerrero-Pérez F, Vicente A, Percovich Hualpa JC, García-Centeno R, González-Fernández L, Ollero García MD, Irigaray Echarri A, Moure Rodríguez MD, Novo-Rodríguez C, Calatayud M, Villar-Taibo R, Bernabéu I, Alvarez-Escola C, Benítez Valderrama P, Tenorio-Jiménez C, Abellán Galiana P, Venegas E, González-Molero I, Iglesias P, Blanco-Carrera C, Vidal-Ostos De Lara F, de Miguel Novoa P, López Mezquita E, Hanzu FA, Aldecoa I, Aznar S, Lamas C, Aulinas A, Asla Q, Gracia Gimeno P, Recio Córdova JM, Avilés-Pérez MD, Asensio-Wandosell D, Sampedro-Núñez M, Cámara R, Paja Fano M, Ruz-Caracuel I, Fajardo C, Marazuela M, Puig-Domingo M2024-07-01acromegaly, pasireotide, pegvisomant, pituitary neuroendocrine tumors, prolactinEndocrine-related cancer
Glucose metabolism outcomes after pituitary surgery in patients with acromegaly.Pascual-Corrales E, Biagetti B, Marazuela M, Asensio-Wandosel D, Rodríguez Berrocal V, Irigaray Echarri A, Novo-Rodríguez C, Calatayud M, Bernabéu I, Alvarez-Escola C, Tenorio-Jiménez C, González Molero I, Iglesias P, Blanco C, de Miguel P, López Mezquita E, Lamas C, Aulinas A, Gracia P, Recio-Córdova JM, Sampedro-Nuñez M, Paja M, Moure Rodríguez MD, Fajardo-Montañana C, Cordido F, Menéndez Torre E, Percovich JC, García-Centeno R, Cámara R, Hanzu FA, Vicente Delgado A, González Fernández L, Guerrero-Pérez F, Ollero García-Agulló MD, Novoa-Testa I, Villar-Taibo R, Benítez Valderrama P, Abellán Galiana P, Venegas Moreno E, Vidal-Ostos De Lara F, Enseñat J, Aznar S, Asla Q, Aviles-Pérez MD, Puig-Domingo M, Araujo-Castro M2024-06-28Acromegaly, Diabetes mellitus, Glucose levels, HbA1c, Pituitary adenoma, Remission, SomatotropinomaPituitary
[Thyroid carcinomas: the role of systemic therapies in internal medicine].Brandenburg T, Kroiß M2024-06-20Molecular targeted therapy, Redifferentiation, Thyroid cancer, differentiated, Thyroid cancer, medullary, Thyroid carcinoma, anaplasticInnere Medizin (Heidelberg, Germany)
[Gastrointestinal neuroendocrine tumors: update 2024].Lahner H, Pavel M2024-06-20Molecular targeted therapy, Radiofrequency ablation, Radioligand therapy, Somatostatin analogues, Tyrosine kinase inhibitorsInnere Medizin (Heidelberg, Germany)
Advancing toward the aetiologic treatment of type 1 diabetes in the early stages: the dawn of a new era in its management.Cardona-Hernández R, Castaño González LA, Atance EP, Echevarría IR2024-06-12Anales de pediatria
Improved Oral Health in Adults with X-Linked Hypophosphatemia Treated with Burosumab.Hervé A, Gadion M, Herrou J, Izart M, Linglart A, Cohen-Solal M, Lecoq AL, Kamenicky P, Briot K, Chaussain C, Biosse Duplan M2024-06-12The Journal of clinical endocrinology and metabolism
The spectrum of cardiac abnormalities in patients with acromegaly: results from a case-control cardiac magnetic resonance study.De Alcubierre D, Feola T, Cozzolino A, Pofi R, Galea N, Catalano C, Auriemma RS, Pirchio R, Pivonello R, Isidori AM, Giannetta E2024-06-07Acromegaly, Cardiac magnetic resonance, Cardiomyopathy, Growth hormone, IGF1, Myocardial hypertrophyPituitary
Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia.Auchus RJ, Hamidi O, Pivonello R, Bancos I, Russo G, Witchel SF, Isidori AM, Rodien P, Srirangalingam U, Kiefer FW, Falhammar H, Merke DP, Reisch N, Sarafoglou K, Cutler GB, Sturgeon J, Roberts E, Lin VH, Chan JL, Farber RH2024-06-01The New England journal of medicine
Cardiac magnetic resonance reveals biventricular impairment in Cushing's syndrome: a multicentre case-control study.Feola T, Cozzolino A, De Alcubierre D, Pofi R, Galea N, Catalano C, Simeoli C, Di Paola N, Campolo F, Pivonello R, Isidori AM, Giannetta E2024-05-22Cardiac magnetic resonance, Cardiomyopathy, Cushing’s syndrome, Glucocorticoid, Heart, HypercortisolismEndocrine
Total osteocalcin levels are independently associated with worse testicular function and a higher degree of hypothalamic-pituitary-gonadal axis activation in Klinefelter syndrome.Carlomagno F, Hasenmajer V, Spaziani M, Tenuta M, Sesti F, Tarantino C, Pozza C, Isidori AM, Gianfrilli D2024-05-21Bone, Bone-testicular axis, Gonadotropins, Klinefelter syndrome, Osteocalcin, Testis, TestosteroneJournal of endocrinological investigation
Effectiveness of Combined First-Line Medical Treatment in Acromegaly with Prolactin Co-secretion.Biagetti B, Araujo-Castro M, Menéndez Torre E, Novoa-Testa I, Cordido F, Pascual Corrales E, Rodríguez Berrocal V, Guerrero-Pérez F, Vicente A, Percovich JC, García Centeno R, González L, Ollero García MD, Irigaray Echarri A, Moure Rodríguez MD, Novo-Rodríguez C, Calatayud M, Villar-Taibo R, Bernabéu I, Alvarez-Escola C, Benítez Valderrama P, Tenorio C, Abellán Galiana P, Venegas Moreno E, González Molero I, Iglesias P, Blanco C, Vidal-Ostos De Lara F, de Miguel P, López Mezquita E, Hanzu F, Aldecoa I, Aznar S, Lamas C, Aulinas A, Asla Q, Gracia P, Recio Córdova JM, Aviles M, Asensio-Wandosel D, Sampedro M, Cámara R, Paja M, Ruz-Caracuel I, Fajardo-Montañana C, Cordero Asanza E, Martinez-Saez E, Marazuela M, Puig-Domingo M2024-05-21acromegaly, cabergoline, dopamine agonist, first-line treatment, prolactin, somatostatin receptor ligandEuropean journal of endocrinology
Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome.Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Kanakatti Shankar R, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA, Backeljauw PF2024-05-15European journal of endocrinology
Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.Naamneh Elzenaty R, Martinez de Lapiscina I, Kouri C, Sauter KS, Sommer G, Castaño L, Flück CE2024-04-16Differences of sex development (DSD), Steroidogenic factor 1 (SF-1/NR5A1), broad phenotype, genotype-phenotype correlationThe Journal of clinical endocrinology and metabolism
The effect of coping strategies on health-related quality of life in acromegaly patients.Schock L, Chmielewski WX, Siegel S, Detomas M, Deutschbein T, Giese S, Honegger J, Unger N, Kreitschmann-Andermahr I2024-04-13Acromegaly, Coping strategies, HRQoL, Health variablesEndocrine
Epigenetic/circadian clocks and PCOS.Vatier C, Christin-Maitre S2024-04-10DNA methylation, PCOS, circadian clock gene, epigenetic changes, genome-wide association studies, hyperandrogenism, metabolic syndrome, polycystic ovary syndrome, reproductive-aged womenHuman reproduction (Oxford, England)
Claudin-10 Expression and the Gene Expression Pattern of Thick Ascending Limb Cells.Brideau G, Cheval L, Griveau C, Ling WE, Lievre L, Crambert G, Müller D, Broćić J, Cherchame E, Houillier P, Prot-Bertoye C2024-04-03HELIX syndrome, claudin-10, epithelium, kidney, thick ascending limb of the loop of Henle, tight junction, transcriptional profilingInternational journal of molecular sciences
Cross-sectional association between severe periodontitis and diabetes mellitus: A nation-wide cohort study.Montero E, Bujaldón R, Montanya E, Calle-Pascual AL, Rojo-Martínez G, Castaño L, Franch-Nadal J, Delgado E, Chaves F, Alonso B, Sanz M, Herrera D2024-04-01diabetes mellitus, epidemiology, periodontitis, risk factorJournal of clinical periodontology
Tall stature and gigantism in transition age: clinical and genetic aspects-a literature review and recommendations.Sada V, Puliani G, Feola T, Pirchio R, Pofi R, Sesti F, De Alcubierre D, Amodeo ME, D'Aniello F, Vincenzi L, Gianfrilli D, Isidori AM, Grossman AB, Sbardella E2024-04-01GH, Gigantism, Tall stature, Transition ageJournal of endocrinological investigation
Real-world experience with 11C-methionine positron emission tomography in the management of acromegaly.Haberbosch L, MacFarlane J, Koulouri O, Gillett D, Powlson AS, Oddy S, Halsall DJ, Huynh KA, Jones J, Cheow HK, Spranger J, Mai K, Strasburger CJ, Mannion RJ, Gurnell M2024-03-30acromegaly, growth hormone–secreting pituitary adenoma, magnetic resonance imaging, positron emission tomographyEuropean journal of endocrinology
Impact of exenatide on weight loss and eating behavior in adults with craniopharyngioma-related obesity: the CRANIOEXE randomized placebo-controlled trial.Gatta-Cherifi B, Mohammedi K, Cariou T, Poitou C, Touraine P, Raverot G, Brue T, Chanson P, Illouz F, Grunenwald S, Chabre O, Sonnet E, Cuny T, Bertherat J, Czernichow S, Frison E, Tabarin A2024-03-30craniopharyngioma, glucagon-like peptide-1 analogs, hypothalamic obesity, lifestyle interventionEuropean journal of endocrinology
Hypomagnesemia, a diagnosis to consider.Pérez-Pérez A, Courel Del Río V, García Fernández S, Castaño González L, Riaño Galán I2024-03-28Anales de pediatria
Exploring sexual function in adrenal insufficiency: findings from the Dual RElease hydrocortisone versus conventionAl glucocorticoid replaceMent therapy in hypocortisolism (DREAM) trial.Hasenmajer V, De Alcubierre D, Ferrari D, Minnetti M, Bonaventura I, Pofi R, Simeoli C, Tomaselli A, Sciarra F, Bottillo G, Angelini F, Cozzolino A, Venneri MA, Jannini EA, Gianfrilli D, Pivonello R, Isidori AM2024-03-28adrenal insufficiency, dual‐release hydrocortisone, erectile dysfunction, sexual functionAndrology
Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Chiarito M, Lattanzio C, D'Ascanio V, Capalbo D, Cavarzere P, Grandone A, Aiello F, Pepe G, Wasniewska M, Zoller T, Salerno M, Faienza MF2024-03-2717-OHP, 21-hydroxylase deficiency (21-OHD), ACTH, Congenital adrenal hyperplasia (CAH), NephrolithiasisEndocrine
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ2024-03-22CNNM2, Genetic hypomagnesaemia, Intellectual disability, Variant characterisationScientific reports
Approach to the Patient with Bilateral Adrenal Masses.Vassiliadi DA, Delivanis DA, Papalou O, Tsagarakis S2024-03-13adrenal mass, cortisol excess, hormonal work up, imaging, malignancy, pheochromocytomaThe Journal of clinical endocrinology and metabolism
Position statement on the diagnosis and management of congenital pituitary deficiency in adults: The French National Diagnosis and Treatment Protocol (NDTP).Castets S, Albarel F, Bachelot A, Brun G, Bouligand J, Briet C, Bui Quoc E, Cazabat L, Chabbert-Buffet N, Christin-Maitre S, Courtillot C, Cuny T, De Filippo G, Donadille B, Illouz F, Pellegrini I, Reznik Y, Saveanu A, Teissier N, Touraine P, Vantyghem MC, Vergier J, Léger J, Brue T, Reynaud R2024-03-05Arginine vasopressin deficiency, Elderly, Growth hormone deficiency, Hypopituitarism, Pituitary deficiency, PregnancyAnnales d'endocrinologie
[Precision medicine in endocrinology exemplified by medullary thyroid cancer].Brandenburg T, Machlah YM, Führer D2024-03-01Calcitonin, Desmoplasia, Multiple endocrine neoplasia, Proto-oncogene RET, Selective RET-kinase inhibitorsInnere Medizin (Heidelberg, Germany)
Predicting postoperative hypocortisolism in patients with non-aldosterone-producing adrenocortical adenoma: a retrospective single-centre study.Bonaventura I, Tomaselli A, Angelini F, Ferrari D, De Alcubierre D, Hasenmajer V, Sbardella E, Cozzolino A, Paganini AM, Isidori AM, Minnetti M, Pofi R2024-02-22Adrenal incidentaloma, Hypothalamus–pituitary–adrenal axis, Mild autonomous cortisol secretion, Non-aldosterone-producing adrenocortical adenoma, Postoperative hypocortisolism, RecoveryJournal of endocrinological investigation
HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF.Xekouki P, Konstantinidou A, Tatsi C, Sertedaki A, Settas N, Loutradis D, Chrousos GP, Kanaka-Gantenbein C, Dacou-Voutetakis C, Voutetakis A2024-02-05HNF1A mutations, MODY diabetes, Ovary, Premature menopause, Premature ovarian failureHormones (Athens, Greece)
Clinical, glycometric features and treatment in a family with monogenic diabetes due to a new mutation in the insulin gene.Pérez López P, Bahillo Curieses P, Fernández P, Martínez R, Delgado E, Ortolá A, de Luis D, Díaz-Soto G2024-02-01C-peptide, Continuous glucose monitoring, Diabetes monogénica, Gen de la insulina, Insulin gene, Monitorización continua de glucosa, Monogenic diabetes, Péptido CEndocrinologia, diabetes y nutricion
Prognostic impact of hypothalamic perforation in adult patients with craniopharyngioma: a cohort study.Gaillard S, Benichi S, Villa C, Jouinot A, Vatier C, Christin-Maitre S, Raffin-Sanson ML, Jacob J, Chanson P, Courtillot C, Bachelot A, Bertherat J, Assié G, Baussart B2024-01-30craniopharyngioma, endoscopy, hypothalamic perforation, hypothalamus, surgery, targeted therapyThe Journal of clinical endocrinology and metabolism
[Diagnosis of adrenocortical carcinoma].Tőke J, Tóth M2024-01-28adrenocortical carcinoma, diagnostics, diagnosztika, mellékvesekéreg-carcinoma, non-invasive biomarkers, noninvazív biomarkerek, szöveti biomarkerek, tissue biomarkersOrvosi hetilap
From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.Spaziani M, Carlomagno F, Tarantino C, Angelini F, Paparella R, Tarani L, Putotto C, Badagliacca R, Pozza C, Isidori AM, Gianfrilli D2024-01-0947, XXY, 48, XXXY, 48, XXYY, 49, XXXXY, 49, XXXYY, HGA, Klinefelter syndrome, X chromosome, aneuploidy, sex chromosomesThe Journal of clinical endocrinology and metabolism
Corrigendum: Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.van Abswoude DH, Pellikaan K, Nguyen N, Rosenberg AGW, Davidse K, Hoekstra FME, Rood IM, Poitou C, Grugni G, Høybye C, Markovic TP, Caixàs A, Crinò A, van den Berg SAA, van der Lely AJ, de Graaff LCG2024-01-01Prader-Willi Syndrome, cardiovascular disease, kidney disease, kidney function tests, proteinuria, urine tract infectionsFrontiers in endocrinology
Transition from Paediatric to Adult Care in CAH: 20 Years of Experience at a Tertiary Referral Center.Kiewert C, Jedanowski J, Hauffa BP, Petersenn S, Mann K, Führer D, Unger N2024-01-01Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.Kouri C, Sommer G, Martinez de Lapiscina I, Elzenaty RN, Tack LJW, Cools M, Ahmed SF, Flück CE2024-01-01Broad phenotype, Differences of sex development (DSD), Genetics of sex determination and differentiation, Intersex, Steroidogenic factor 1 (SF-1/NR5A1)EBioMedicine
Does an increase in adipose tissue 'weight' affect male fertility? A systematic review and meta-analysis based on semen analysis performed using the WHO 2010 criteria.Santi D, Lotti F, Sparano C, Rastrelli G, Isidori AM, Pivonello R, Barbonetti A, Salonia A, Minhas S, Krausz C, Vignozzi L, Maggi M, Corona G2024-01-01male fertility, obesity, overweight, semen aparameters, sperm concentration and motilityAndrology
Corrigendum: Candidate biomarkers for the prediction and monitoring of partial remission in pediatric type 1 diabetes.Gomez-Muñoz L, Perna-Barrull D, Caroz-Armayones JM, Murillo M, Rodriguez-Fernandez S, Valls A, Vazquez F, Perez J, Corripio R, Castaño L, Bel J, Vives-Pi M2024-01-01autoimmunity, biomarkers, honeymoon, immune cell subpopulations, partial remission phase, pediatrics, prediction model, type 1 diabetes (T1D)Frontiers in immunology
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.Carmona-Hidalgo B, Martín-Gómez C, Herrera-Ramos E, Rodríguez-López R, Fontanet LN, Moreno JC, Blasco-Amaro JA, Léger J, Dario-Ortigoza-Escobar J2024-01-01PloS one
Addition of progesterone to feminizing gender-affirming hormone therapy in transgender individuals for breast development: a randomized controlled trial.Dijkman BAM, Helder D, Boogers LS, Gieles NC, van Heesewijk JO, Slaa ST, Liberton NPTJ, Wiepjes CM, de Blok CJM, den Heijer M, Dreijerink KMA2023-12-20Breast development, Breast volume, Estradiol, Gender-affirming hormone therapy, Progesterone, TransgenderBMC pharmacology & toxicology
Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.Lévy R, Escudier A, Bastard P, Briand C, Polivka L, Stoupa A, Talbotec C, Rothenbuhler A, Charbit M, Debray D, Bodemer C, Casanova JL, Linglart A, Neven B2023-12-19AIRE, APS-1, Jak inhibitor, RuxolitinibJournal of clinical immunology
Altered Red Blood Cell Fatty Acid and Serum Adipokine Profiles in Subjects with Obesity.Léniz A, Fernández-Quintela A, Arranz S, Portune K, Tueros I, Arana E, Castaño L, Velasco O, Portillo MP2023-12-15FGF21, NOV/CCN3, adipokines, obesity, red blood cell fatty acid, regression analysisBiomedicines
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.Cavarzere P, Pietrobelli A, Gandini A, Munari S, Baffico AM, Maffei M, Gaudino R, Guzzo A, Arrigoni M, Coviello D, Piacentini G, Antoniazzi F2023-12-12Genetic analysis, Growth, Next-generation sequencing (NGS), Short stature (SS), Variants of uncertain significance (VUS)Journal of endocrinological investigation
Effects of Dual-Release Hydrocortisone on Bone Metabolism in Primary and Secondary Adrenal Insufficiency: A 6-Year Study.Hasenmajer V, Ferrari D, De Alcubierre D, Sada V, Puliani G, Bonaventura I, Minnetti M, Tomaselli A, Pofi R, Sbardella E, Cozzolino A, Gianfrilli D, Isidori AM2023-12-01adrenal insufficiency, bone metabolism, dual-release hydrocortisone, glucocorticoids, osteoporosis, trabecular bone scoreJournal of the Endocrine Society
Secondary diabetes mellitus in pheochromocytomas and paragangliomas.Moustaki M, Paschou SA, Vakali E, Xekouki P, Ntali G, Kassi E, Peppa M, Psaltopoulou T, Tzanela M, Vryonidou A2023-12-01Adrenergic phenotype, Aerobic glycolysis, Impaired insulin secretion, Noradrenergic phenotype, PPGLs, Secondary diabetes mellitusEndocrine
Parathyroid cancer with MTOR gene mutation: Case report and review of the literature.Stark J, Tőke J, Huszty G, Nagy P, Bedics G, Bödör C, Tímár J, Tóth M2023-12-01Annales d'endocrinologie
Hypercalcemia in patients with mutations in NR3C2 and SCNN1B.Sainz de Los Terreros Errea A, Madariaga L, García-Castaño A2023-11-24Medicina clinica
Associations Between Fatigue and Endocrine and Non-endocrine Health Problems in Turner Syndrome: Cohort Study and Review.Rosenberg AGW, Dingemans VDA, Bos-Roubos AG, Luijks S, Dessens AB, Dykgraaf R, Roos-Hesselink JW, Van Rossum EFC, Van Der Lely AJ, De Graaff LCG2023-11-17Turner syndrome, adult, fatigue, internal medicine, psychological, stressThe Journal of clinical endocrinology and metabolism
Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review.Pellikaan K, Nguyen NQC, Rosenberg AGW, Coupaye M, Goldstone AP, Høybye C, Markovic T, Grugni G, Crinò A, Caixàs A, Poitou C, Corripio R, Nieuwenhuize RM, van der Lely AJ, de Graaff LCG2023-11-17Prader-Willi syndrome, comorbidity, hypothalamo-hypophyseal system, neoplasmsThe Journal of clinical endocrinology and metabolism
Pituitary surgery outcome in patients 75 years and older: a retrospective study.Garvayo M, Villa C, Jouinot A, Messerer M, Reina V, Hage M, Raffin-Sanson ML, Courtillot C, Bachelot A, Kamenicky P, Chanson P, Vatier C, Christin-Maitre S, Bertherat J, Assié G, Gaillard S, Baussart B2023-11-01Adenoma, Complications, Elderly, Endoscopy, PitNET, Pituitary surgeryActa neurochirurgica
Altered Thyroid Feedback Loop in Klinefelter Syndrome: From Infancy Through the Transition to Adulthood.Carlomagno F, Minnetti M, Angelini F, Pofi R, Sbardella E, Spaziani M, Aureli A, Anzuini A, Paparella R, Tarani L, Porcelli T, De Stefano MA, Pozza C, Gianfrilli D, Isidori AM2023-10-18The Journal of clinical endocrinology and metabolism
Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype.Urrutia I, Martínez R, Calvo B, Saso-Jiménez L, González P, Fernández-Rubio E, Martín-Nieto A, Aguayo A, Rica I, Gaztambide S, Castano L2023-10-18HLA-DRB1 genotype, adult-onset diabetes, autoimmune diabetes, early-onset diabetes, pancreatic-autoantibodiesThe Journal of clinical endocrinology and metabolism
Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study.Schröder MAM, Neacşu M, Adriaansen BPH, Sweep FCGJ, Ahmed SF, Ali SR, Bachega TASS, Baronio F, Birkebæk NH, de Bruin C, Bonfig W, Bryce J, Clemente M, Cools M, Elsedfy H, Globa E, Guran T, Güven A, Amr NH, Janus D, Taube NL, Markosyan R, Miranda M, Poyrazoğlu Ş, Rees A, Salerno M, Stancampiano MR, Vieites A, de Vries L, Yavas Abali Z, Span PN, Claahsen-van der Grinten HL2023-10-17congenital adrenal hyperplasia, diagnosis, early childhood, testicular adrenal rest tumorsEuropean journal of endocrinology
Acquired hypothalamic dysfunction in childhood: 'what do patients need?' - an Endo-ERN survey.van Roessel IMAA, de Graaf JP, Biermasz NR, Charmandari E, van Santen HM2023-10-01childhood, early onset, hypothalamic dysfunction, patient perspective, suprasellar brain tumorsEndocrine connections
COVID-19 pandemic and adrenals: deep insights and implications in patients with glucocorticoid disorders.Cozzolino A, Hasenmajer V, Newell-Price J, Isidori AM2023-10-01Adrenal insufficiency, Adrenals, Covid-19, Cushing’s syndrome, GlucocorticoidsEndocrine
Publisher Correction: Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma.Pálla S, Tőke J, Bozsik A, Butz H, Papp J, Likó I, Kuroli E, Bánvölgyi A, Hamar M, Bertherat J, Medvecz M, Patócs A2023-09-28Scientific reports
Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma.Pálla S, Tőke J, Bozsik A, Butz H, Papp J, Likó I, Kuroli E, Bánvölgyi A, Hamar M, Bertherat J, Medvecz M, Patócs A2023-09-05Scientific reports
International Phase IV Field Study for the Reliability and Validity of the European Organisation for Research and Treatment of Cancer Thyroid Cancer Module EORTC QLQ-THY34.Singer S, Al-Ibraheem A, Pinto M, Iakovou I, Østhus AA, Hammerlid E, Locati LD, Gamper E, Ignacio J, Jordan SJ, Kiyota N, Buettner M, Engesser D, Canotilho R, Ioannidis G, Husson O, Gama RR, Fanetti G, Moss L, Inhestern J, Andry G, Fuehrer D, Kuliś D, Rimmele H, Sykiotis G2023-09-01EORTC QLQ-C30, instrument, quality of life, questionnaire, thyroid cancer, thyroid-specific, validationThyroid : official journal of the American Thyroid Association
Mortality in Acromegaly Diagnosed in Older Individuals in Spain Is Higher in Women Compared to the General Spanish Population.Biagetti B, Iglesias P, Villar-Taibo R, Moure MD, Paja M, Araujo-Castro M, Ares J, Álvarez-Escola C, Vicente A, Guivernau ÈÁ, Novoa-Testa I, Perez FG, Cámara R, Lecumberri B, Gómez CG, Bernabéu I, Manjón L, Gaztambide S, Cordido F, Webb SM, Menéndez-Torre EL, Díez JJ, Simó R, Puig-Domingo M2023-08-18Spain, acromegaly, elderly, mortality, olderThe Journal of clinical endocrinology and metabolism
Focus on Liver Function Abnormalities in Patients With Turner Syndrome: Risk Factors and Evaluation of Fibrosis Risk.Bourcigaux N, Dubost E, Buzzi JC, Donadille B, Corpechot C, Poujol-Robert A, Christin-Maitre S2023-08-18Turner syndrome, hormone replacement therapy, liver enzymes, liver fibrosis, primary ovarian insufficiency, steatosisThe Journal of clinical endocrinology and metabolism
Platelet-derived circRNAs signature in patients with gastroenteropancreatic neuroendocrine tumors.Campolo F, Sesti F, Feola T, Puliani G, Faggiano A, Tarsitano MG, Tenuta M, Hasenmajer V, Ferretti E, Verrico M, Gianfrilli D, Venneri MA, Isidori AM, Giannetta E2023-08-16Biomarkers, Circular RNAs (circRNAs), Liquid biopsy, Neuroendocrine tumors (NETs), Tumor-educated platelets (TEPs)Journal of translational medicine
[Macronodular adrenal hyperplasia causing Cushing's syndrome due to ARMC5 gene mutation.].Hella Z, Tőke J, Patócs A, Varga Z, Dabasi G, Kovács GL, Tóth M2023-08-13ACTH-independens hypercortisolismus, ACTH-independent hypercortisolismus, Cushing-szindróma, Cushing’s syndrome, armadillo repeat-containing 5 gene, primary bilateral macronodular adrenal hyperplasia, primer bilateralis macronodularis mellékvese-hyperplasia, ’armadillo repeat-containing 5’ génOrvosi hetilap
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.García-Castaño A, Gómez-Conde S, Gondra L, Herrero M, Aguirre M, de la Hoz AB, Castaño L, Madariaga L2023-08-03Scientific reports
Thyrotropin-secreting tumor "TSH-PitNET": From diagnosis to treatment.Briet C, Suteau V, Illouz F, Rodien P2023-08-01Diagnosis, Pituitary adenoma, TSH secreting tumor, TSH-PitNET, TreatmentAnnales d'endocrinologie
[Aggressive pituitary adenoma and pituitary carcinoma].Tóth M2023-07-30diagnosis, diagnózis, drug therapy, gyógyszeres kezelés, hypophysisadenoma, hypophysiscarcinoma, pituitary adenoma, pituitary carcinoma, radiotherapy, sugárkezelésOrvosi hetilap
Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia.Righi B, Ali SR, Bryce J, Tomlinson JW, Bonfig W, Baronio F, Costa EC, Guaragna-Filho G, T'Sjoen G, Cools M, Markosyan R, Bachega TASS, Miranda MC, Iotova V, Falhammar H, Ceccato F, Stancampiano MR, Russo G, Daniel E, Auchus RJ, Ross RJ, Ahmed SF2023-06-0121-hydroxylase deficiency, Co-morbidities, Congenital adrenal hyperplasia, Outcome, RegistryEndocrine
An update on the long-term outcomes of prenatal dexamethasone treatment in congenital adrenal hyperplasia.Van't Westeinde A, Karlsson L, Messina V, Wallensteen L, Brösamle M, Dal Maso G, Lazzerini A, Kristensen J, Kwast D, Tschaidse L, Auer MK, Nowotny HF, Persani L, Reisch N, Lajic S2023-04-01CAH, brain development, dexamethasone, first trimester, prenatal treatment, treatment safetyEndocrine connections
Outcome of COVID-19 infections in patients with adrenal insufficiency and excess.Nowotny HF, Bryce J, Ali SR, Giordano R, Baronio F, Chifu I, Tschaidse L, Cools M, van den Akker EL, Falhammar H, Appelman-Dijkstra NM, Persani L, Beccuti G, Ross IL, Grozinsky-Glasberg S, Pereira AM, Husebye ES, Hahner S, Faisal Ahmed S, Reisch N2023-04-01Cushing’s syndrome, SARS-CoV-2, adrenal insufficiency, glucocorticoidsEndocrine connections
SHORT syndrome: A good case can break an old acronym.Ruiz-García I, Sánchez-Torralvo FJ, Gómez-Zumaquero JM, Colomo-Rodríguez N, Domínguez-López M, Saso-Jimenez L, Urrutia-Etxebarria I, Martínez-Salazar RM, Castaño-González LA, Ruiz de Adana-Navas MS2023-03-01Endocrinologia, diabetes y nutricion
Mapping of the current transition of care practice for patients with pituitary disease at Endo-ERN reference centers.Shishkov SR, Tuccillo L, Iotova VM, Pivonello R, Pelsma IC, Pereira AM, Biermasz NR2023-02-01Endo-ERN, pituitary disease, quality of care, survey, transition of careEndocrine connections
Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1.Rosenberg AGW, Mochèl K, Hähner LM, Ruules L, Davidse K, Bos-Roubos AG, van Dijk SA, Zillikens MC, Taal W, van der Lely AJ, de Graaff LCG2023-01-01Neurofibromatosis type 1 (NF1), adult, endocrinology, fatigue, internal medicineFrontiers in endocrinology
Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.van Abswoude DH, Pellikaan K, Nguyen N, Rosenberg AGW, Davidse K, Hoekstra FME, Rood IM, Poitou C, Grugni G, Høybye C, Markovic TP, Caixàs A, Crinò A, van den Berg SAA, van der Lely AJ, de Graaff LCG2023-01-01Prader-Willi Syndrome, cardiovascular disease, kidney disease, kidney function tests, proteinuria, urine tract infectionsFrontiers in endocrinology
New perspectives in functional hypogonadotropic hypogonadism: beyond late onset hypogonadism.Spaziani M, Carlomagno F, Tarantino C, Angelini F, Vincenzi L, Gianfrilli D2023-01-01HIV, diabetes, drugs, functional hypogonadotropic hypogonadism, gonadotropins, late onset hypogonadism, low energy availability, obesityFrontiers in endocrinology
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.Martinez de Lapiscina I, Kouri C, Aurrekoetxea J, Sanchez M, Naamneh Elzenaty R, Sauter KS, Camats N, Grau G, Rica I, Rodriguez A, Vela A, Cortazar A, Alonso-Cerezo MC, Bahillo P, Bertholt L, Esteva I, Castaño L, Flück CE2023-01-01PloS one
Gut microbial dysbiosis in patients with Cushing's disease in long-term remission. Relationship with cardiometabolic risk.Valassi E, Manichanh C, Amodru V, Fernández PG, Gaztambide S, Yañez F, Martel-Duguech L, Puig-Domingo M, Webb SM2023-01-01Cushing's disease, Cushing's syndrome, cardiovascular risk, gut microbiotaFrontiers in endocrinology
Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.Guaragna-Filho G, Guerra-Junior G, Tadokoro-Cuccaro R, Hughes IA, Barros BA, Hiort O, Balsamo A, Guran T, Holterhus PM, Hannema S, Poyrazoglu S, Darendeliler F, Bryce J, Ahmed SF, Quigley CA2023-01-01Androgen insensitivity syndrome, Differences of sex development, Disorders of sex development, Partial androgen insensitivity syndrome, PubertySexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Adrenal crisis in infants and young children with adrenal insufficiency: Management and prevention.Bizzarri C, Capalbo D, Wasniewska MG, Baronio F, Grandone A, Cappa M2023-01-01adrenal crisis, adrenal insufficiency, child, cortisol, hydrocortisoneFrontiers in endocrinology
Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol.Martín-Gómez C, Ortigoza-Escobar JD, Nou-Fontanet L, Molina-Linde JM, Bachoud-Lévi AC, Léger J, Blasco-Amaro JA2023-01-01PloS one
Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study.Zamanipoor Najafabadi AH, van der Meulen M, Priego Zurita AL, Faisal Ahmed S, van Furth WR, Charmandari E, Hiort O, Pereira AM, Dattani M, Vitali D, de Graaf JP, Biermasz NR2023-01-01Endo-ERN, pituitary, registry, surgeryEndocrine connections
Can GH Therapy Worsen a Clinically Silent Chiari Malformation? A Case Report and Systematic Literature Review.Candela E, La Corte E, Zucchini S, Lefosse M, Toni F, Zucchelli M2023-01-01Atlo-occipital decompression surgery, Chiari type 1 malformation, GH therapy, Systematic literature reviewHormone research in paediatrics
Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study.van Abswoude DH, Pellikaan K, Rosenberg AGW, Davidse K, Coupaye M, Høybye C, Markovic TP, Grugni G, Crinò A, Caixàs A, Poitou C, Mosbah H, Weir T, van Vlimmeren LA, Rutges JPHJ, De Klerk LWL, Zillikens MC, van der Lely AJ, de Graaff LCG2022-12-17Prader–Willi syndrome, bone density, hormone replacement therapy, human growth hormone, osteoporosis, scoliosisThe Journal of clinical endocrinology and metabolism
Familial male-limited precocious puberty (testotoxicosis): Usefulness of treatment with ketoconazole and triptorelin.García García E, Álvarez Del Vayo C, Castaño L2022-12-09Medicina clinica
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Greeley SAW, Polak M, Njølstad PR, Barbetti F, Williams R, Castano L, Raile K, Chi DV, Habeb A, Hattersley AT, Codner E2022-12-01MODY, diabetes mellitus classification, genetics, monogenic, neonatal diabetesPediatric diabetes
Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.Karila D, Donadille B, Léger J, Bouvattier C, Bachelot A, Kerlan V, Catteau-Jonard S, Salenave S, Albarel F, Briet C, Coutant R, Brac De La Perriere A, Valent A, Siffroi JP, Christin-Maitre S2022-12-01European journal of endocrinology
Serum vascular endothelial growth factor b and metabolic syndrome incidence in the population based cohort Di@bet.es study.Lago-Sampedro A, Lhamyani S, Valdés S, Colomo N, Maldonado-Araque C, González-Molero I, Doulatram-Gamgaram V, Delgado E, Chaves FJ, Castaño L, Calle-Pascual A, Franch-Nadal J, Rojo-Martínez G, García-Serrano S, García-Escobar E2022-11-01International journal of obesity (2005)
Diagnosis and management of hypertension in patients with Cushing's syndrome: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension.Fallo F, Di Dalmazi G, Beuschlein F, Biermasz NR, Castinetti F, Elenkova A, Fassnacht M, Isidori AM, Kastelan D, Korbonits M, Newell-Price J, Parati G, Petersenn S, Pivonello R, Ragnarsson O, Tabarin A, Theodoropoulou M, Tsagarakis S, Valassi E, Witek P, Reincke M2022-11-01Journal of hypertension
Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.Lawrence N, Bacila I, Dawson J, Bryce J, Ali SR, van den Akker ELT, Bachega TASS, Baronio F, Birkebaek NH, Bonfig W, van der Grinten HC, Costa EC, de Vries L, Elsedfy H, Güven A, Hannema S, Iotova V, van der Kamp HJ, Clemente M, Lichiardopol CR, Milenkovic T, Neumann U, Nordenström A, Poyrazoğlu Ş, Probst-Scheidegger U, De Sanctis L, Tadokoro-Cuccaro R, Thankamony A, Vieites A, Yavaş Z, Faisal Ahmed S, Krone N2022-11-01biomarkers, congenital adrenal hyperplasia, hydrocortisone, linear mixed-effects modelsClinical endocrinology
Clonidine suppression test for a reliable diagnosis of pheochromocytoma: When to use.Tsiomidou S, Pamporaki C, Geroula A, Van Baal L, Weber F, Dralle H, Schmid KW, Führer D, Unger N2022-11-01catecholamines, clonidine suppression test, metanephrine, normetanephrine, pheochromocytomaClinical endocrinology
Immunogenic dynamics and SARS-CoV-2 variant neutralisation of the heterologous ChAdOx1-S/BNT162b2 vaccination: Secondary analysis of the randomised CombiVacS study.García-Pérez J, González-Pérez M, Castillo de la Osa M, Borobia AM, Castaño L, Bertrán MJ, Campins M, Portolés A, Lora D, Bermejo M, Conde P, Hernández-Gutierrez L, Carcas A, Arana-Arri E, Tortajada M, Fuentes I, Ascaso A, García-Morales MT, Erick de la Torre-Tarazona H, Arribas JR, Imaz-Ayo N, Mellado-Pau E, Agustí A, Pérez-Ingidua C, Gómez de la Cámara A, Ochando J, Belda-Iniesta C, Frías J, Alcamí J, Pérez-Olmeda M2022-08-01Antibodies, Heterologous vaccination, Neutralisation, SARS-CoV-2, VariantsEClinicalMedicine
Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.Rosenberg AGW, Wellink CM, Tellez Garcia JM, Pellikaan K, Van Abswoude DH, Davidse K, Van Zutven LJCM, Brüggenwirth HT, Resnick JL, Van der Lely AJ, De Graaff LCG2022-07-12Prader–Willi syndrome, genetic variation, genetics, genotype, health problems, mutism, paternal deletion, phenotype, uniparental disomyJournal of clinical medicine
5-Alpha-reductase type 2 deficiency. A new case in the Spanish population.González Fenández M, Antonio IE, Martín IMP, Martínez JS, Almaraz MCA2022-05-01Endocrinologia, diabetes y nutricion
25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics.Castano L, Madariaga L, Grau G, García-Castaño A2022-04-29calcifediol, genetic forms of rickets, nutritional rickets, vitamin D deficiency, vitamin D treatmentNutrients
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.Nordenström A, Ahmed SF, van den Akker E, Blair J, Bonomi M, Brachet C, Broersen LHA, Claahsen-van der Grinten HL, Dessens AB, Gawlik A, Gravholt CH, Juul A, Krausz C, Raivio T, Smyth A, Touraine P, Vitali D, Dekkers OM2022-04-21European journal of endocrinology
Graves' Disease in the Young: Could We Change the Weather?Rodien P2022-04-19Graves’ disease, adolescents, children, rituximab, thionamide, thyrotoxicosisThe Journal of clinical endocrinology and metabolism
ENDO-ERN ON RARE ENDOCRINE CONDITIONS: Endo-ERN in its fifth year: a pinch of care, science, curiosity and new horizons.Iotova V, Bertherat J, Mastorakos G, Hiort O, Pereira AM2022-03-24Endocrine connections
Management of Childhood-onset Craniopharyngioma in Italy: A Multicenter, 7-Year Follow-up Study of 145 Patients.Zucchini S, Di Iorgi N, Pozzobon G, Pedicelli S, Parpagnoli M, Driul D, Matarazzo P, Baronio F, Crocco M, Iudica G, Partenope C, Nardini B, Ubertini G, Menardi R, Guzzetti C, Iughetti L, Aversa T, Di Mase R, Cassio A2022-02-17GH therapy, children, craniopharyngioma, hypothalamic obesity, intracranial tumor, pituitary deficiencyThe Journal of clinical endocrinology and metabolism
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.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 AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE2022-02-17AHDS, Allan-Herndon-Dudley syndrome, MCT8 deficiency, T3 analogue, thyromimetic drugThe Journal of clinical endocrinology and metabolism
Erythrocyte Membrane Nanomechanical Rigidity Is Decreased in Obese Patients.Sot J, García-Arribas AB, Abad B, Arranz S, Portune K, Andrade F, Martín-Nieto A, Velasco O, Arana E, Tueros I, Ferreri C, Gaztambide S, Goñi FM, Castaño L, Alonso A2022-02-08atomic force microscopy, cell membrane physical properties, fluorescence polarization, lipidomics, membrane breakthrough force, membrane fluidity, obesityInternational journal of molecular sciences
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.Ochoa E, Lee S, Lan-Leung B, Dias RP, Ong KK, Radley JA, Pérez de Nanclares G, Martinez R, Clark G, Martin E, Castaño L, Bottolo L, Maher ER2022-02-01Diagnostic assay, Genomic imprinting, Imprinting disorders, Methylation, Multilocus imprinting disturbanceGenetics in medicine : official journal of the American College of Medical Genetics
Prognostic factors and mitotane treatment of adrenocortical cancer. Two decades of experience from an institutional case series.Tőke J, Uhlyarik A, Lohinszky J, Stark J, Huszty G, Micsik T, Borka K, Reismann P, Horányi J, Igaz P, Tóth M2022-01-01Adrenocortical cancer, mitotane, overall survival, prognostic markers, single centre experienceFrontiers in endocrinology
Candidate Biomarkers for the Prediction and Monitoring of Partial Remission in Pediatric Type 1 Diabetes.Gomez-Muñoz L, Perna-Barrull D, Caroz-Armayones JM, Murillo M, Rodriguez-Fernandez S, Valls A, Vazquez F, Perez J, Corripio R, Castaño L, Bel J, Vives-Pi M2022-01-01autoimmunity, biomarkers, honeymoon, immune cell subpopulations, partial remission phase, pediatrics, prediction model, type 1 diabetes (T1D)Frontiers in immunology
2022 European Thyroid Association Guideline for the management of pediatric Graves' disease.Mooij CF, Cheetham TD, Verburg FA, Eckstein A, Pearce SH, Léger J, van Trotsenburg ASP2022-01-01Graves’ disease, antithyroid drugs, childhood, clinical practice guideline, management, pediatric, radioactive iodine, total thyroidectomyEuropean thyroid journal
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.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 LCG2021-12-10Prader-Willi syndrome, estrogens, hypogonadism, hypothalamus, menstrual cycle, obesity, pituitary gland, pubertyJournal of clinical medicine
Consensus on diagnosis and management of Cushing's disease: a guideline update.Fleseriu M, Auchus R, Bancos I, Ben-Shlomo A, Bertherat J, Biermasz NR, Boguszewski CL, Bronstein MD, Buchfelder M, Carmichael JD, Casanueva FF, Castinetti F, Chanson P, Findling J, Gadelha M, Geer EB, Giustina A, Grossman A, Gurnell M, Ho K, Ioachimescu AG, Kaiser UB, Karavitaki N, Katznelson L, Kelly DF, Lacroix A, McCormack A, Melmed S, Molitch M, Mortini P, Newell-Price J, Nieman L, Pereira AM, Petersenn S, Pivonello R, Raff H, Reincke M, Salvatori R, Scaroni C, Shimon I, Stratakis CA, Swearingen B, Tabarin A, Takahashi Y, Theodoropoulou M, Tsagarakis S, Valassi E, Varlamov EV, Vila G, Wass J, Webb SM, Zatelli MC, Biller BMK2021-12-01The lancet. Diabetes & endocrinology
Genetics of human sexual development and related disorders.Martinez de LaPiscina I, Flück CE2021-12-01Current opinion in pediatrics
Therapeutic Effect of Combined Dabrafenib and Trametinib Treatment of BRAF V600E-Mutated Primary Squamous Cell Carcinoma of the Thyroid: A Case Report.Brandenburg T, Muchalla P, Theurer S, Schmid KW, Führer D2021-11-01BRAF V600E, Dabrafenib, Primary squamous cell carcinoma of the thyroid, TrametinibEuropean thyroid journal
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.Garelli S, Dalla Costa M, Sabbadin C, Barollo S, Rubin B, Scarpa R, Masiero S, Fierabracci A, Bizzarri C, Crinò A, Cappa M, Valenzise M, Meloni A, De Bellis AM, Giordano C, Presotto F, Perniola R, Capalbo D, Salerno MC, Stigliano A, Radetti G, Camozzi V, Greggio NA, Bogazzi F, Chiodini I, Pagotto U, Black SK, Chen S, Rees Smith B, Furmaniak J, Weber G, Pigliaru F, De Sanctis L, Scaroni C, Betterle C2021-11-01AIRE gene mutations, Addison’s disease, Autoimmune Polyglandular Syndrome type 1 (APS-1), Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), Chronic hypoparathyroidism, Chronic mucocutaneous candidiasis, Interferon autoantibodiesJournal of endocrinological investigation
Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, García-Pérez N, García-Ledesma P, Martín-Penagos L, Dall'Anese C, Ariceta G, Castaño L, Madariaga L2021-10-01ATP6V0A4, ATP6V1B1, Distal renal tubular acidosis, Genotype-phenotype correlation, Growth, Long-term outcome, SLC4A1Pediatric nephrology (Berlin, Germany)
Hypogonadism in Adult Males with Prader-Willi Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion.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 den Berg SAA, van der Lely AJ, de Graaff LCG2021-09-24Prader-Willi syndrome, hypogonadism, obesity, pituitary gland, puberty, testosteroneJournal of clinical medicine
Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.Martínez de LaPiscina I, Portillo Najera N, Rica I, Gaztambide S, Webb SM, Santos A, Moure MD, Paja Fano M, Hernandez MI, Chueca-Guindelain MJ, Hernández-Ramírez LC, Soto A, Valdés N, Castaño L2021-08-27European journal of endocrinology
Fatty liver index as a predictor for type 2 diabetes in subjects with normoglycemia in a nationwide cohort study.García-Escobar E, Valdés S, Soriguer F, Vendrell J, Urrutia-Etxebarria IM, Maldonado-Araque C, Ortega E, Ocón P, Montanya E, Menéndez E, Lago-Sampedro A, González-Frutos T, Gomis R, Goday A, García-Serrano S, Galán-García JL, Castell C, Bordiú E, Badía R, Aguilera-Venegas G, Girbés J, Gaztambide S, Delgado E, Chaves FJ, Castaño L, Calle-Pascual A, Rojo-Martínez G, Franch-Nadal J2021-08-12Scientific reports
Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients.Coupaye M, Laurier V, Benvegnu G, Poitou C, Faucher P, Mosbah H, Diene G, Pinto G, Briceño LG, Merrien C, Toyos AC, Montastier E, Tauber M, Mourre F2021-07-21COVID-19, Obesity, Oxytocin, Prader-Willi syndrome, SARS-CoV-2Orphanet journal of rare diseases
G Protein-coupled Receptors in Radioiodine-refractory Thyroid Cancer in the Era of Precision Medicine.Suteau V, Seegers V, Munier M, Ben Boubaker R, Reyes C, Gentien D, Wery M, Croué A, Illouz F, Hamy A, Rodien P, Briet C2021-07-13G protein–coupled receptors, Thyroid cancer, follicular, molecular targeted therapies, papillary, prognostic factor, thyroid cancerThe Journal of clinical endocrinology and metabolism
Immunogenicity and reactogenicity of BNT162b2 booster in ChAdOx1-S-primed participants (CombiVacS): a multicentre, open-label, randomised, controlled, phase 2 trial.Borobia AM, Carcas AJ, Pérez-Olmeda M, Castaño L, Bertran MJ, García-Pérez J, Campins M, Portolés A, González-Pérez M, García Morales MT, Arana-Arri E, Aldea M, Díez-Fuertes F, Fuentes I, Ascaso A, Lora D, Imaz-Ayo N, Barón-Mira LE, Agustí A, Pérez-Ingidua C, Gómez de la Cámara A, Arribas JR, Ochando J, Alcamí J, Belda-Iniesta C, Frías J2021-07-10Lancet (London, England)
Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives.Gómez-Conde S, García-Castaño A, Aguirre M, Herrero M, Gondra L, Castaño L, Madariaga L2021-07-01Acidosis tubular renal distal, Correlación genotipo-fenotipo, Distal renal tubular acidosis, Genotype-phenotype correlation, Tratamiento, TreatmentNefrologia
5-Alpha-reductase type 2 deficiency. A new case in the Spanish population.González Fenández M, Antonio IE, Martín IMP, Martínez JS, Almaraz MCA2021-06-14Endocrinologia, diabetes y nutricion
Cushing Disease with Glucocorticoid-induced Positive Feedback-A New Subtype of Pituitary Corticotropinomas?Tóth M2021-06-01Cushing disease, glucocorticoid-induced positive feedbackJournal of the Endocrine Society
Heart and Turner syndrome.Donadille B, Christin-Maitre S2021-06-01Aortic coarctation, Aortic dilatation, Aortic dissection, Bicuspid aortic valve, Coarctation aortique, Dilatation aortique, Dissection aortique, Grossesse, Heart disease, Maladie cardiaque, Maladie rare, Pregnancy, Rare disease, Syndrome de Turner, Turner syndrome, Valve aortique bicuspideAnnales d'endocrinologie
Potential of Erythrocyte Membrane Lipid Profile as a Novel Inflammatory Biomarker to Distinguish Metabolically Healthy Obesity in Children.Jauregibeitia I, Portune K, Rica I, Tueros I, Velasco O, Grau G, Castaño L, Di Nolfo F, Ferreri C, Arranz S2021-04-23children, inflammation, lipidomics, mature erythrocyte membrane, metabolically healthy obesityJournal of personalized medicine
European Reference Networks: challenges and opportunities.Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N2021-04-01Journal of community genetics
Growth and development of islet autoimmunity and type 1 diabetes in children genetically at risk.Nucci AM, Virtanen SM, Cuthbertson D, Ludvigsson J, Einberg U, Huot C, Castano L, Aschemeier B, Becker DJ, Knip M, Krischer JP2021-04-01Beta cell autoimmunity, Childhood growth, Genetic risk, Length, Type 1 diabetes, WeightDiabetologia
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry.Bacila I, Freeman N, Daniel E, Sandrk M, Bryce J, Ali SR, Yavas Abali Z, Atapattu N, Bachega TA, Balsamo A, Birkebæk N, Blankenstein O, Bonfig W, Cools M, Costa EC, Darendeliler F, Einaudi S, Elsedfy HH, Finken M, Gevers E, Claahsen-van der Grinten HL, Guran T, Güven A, Hannema SE, Higham CE, Iotova V, van der Kamp HJ, Korbonits M, Krone RE, Lichiardopol C, Luczay A, Mendonca BB, Milenkovic T, Miranda MC, Mohnike K, Neumann U, Ortolano R, Poyrazoglu S, Thankamony A, Tomlinson JW, Vieites A, de Vries L, Ahmed SF, Ross RJ, Krone NP2021-04-01European journal of endocrinology
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.Capalbo D, Moracas C, Cappa M, Balsamo A, Maghnie M, Wasniewska MG, Greggio NA, Baronio F, Bizzarri C, Ferro G, Di Lascio A, Stancampiano MR, Azzolini S, Patti G, Longhi S, Valenzise M, Radetti G, Betterle C, Russo G, Salerno M2021-03-08Addison’s disease, Primary adrenal insufficiency, adrenal crisis, adult heightThe Journal of clinical endocrinology and metabolism
Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis.Nowotny H, Ahmed SF, Bensing S, Beun JG, Brösamle M, Chifu I, Claahsen van der Grinten H, Clemente M, Falhammar H, Hahner S, Husebye E, Kristensen J, Loli P, Lajic S, Reisch N2021-03-01Adrenal crisis, Adrenal insufficiency, Congenital adrenal hyperplasia, Glucocorticoid replacement, Hydrocortisone, Stress instructionsEndocrine
Access to patient oriented information-a baseline Endo-ERN survey among patients with rare endocrine disorders.Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, De Graaf J, Bratina N, Tillmann V, Pereira AM, Hiort O2021-03-01Education, Endo-ERN, European patient advocacy group, Parents/caregivers, Patients, Rare endocrine diseaseEndocrine
Update on primary bilateral macronodular adrenal hyperplasia (PBMAH).Bouys L, Chiodini I, Arlt W, Reincke M, Bertherat J2021-03-01ARMC5, Cushing syndrome, GPCR, PBMAH, Primary bilateral macronodular adrenal hyperplasia, illegitimate receptorsEndocrine
Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity.Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M, Reschke F, Danne T, Vettor R, Milan G, Maffei P2021-03-01Alström syndrome, ENDO-ERN, Monogenetic diabetes, PBI-4050, Rare disease network, SetmelanotideEndocrine
EndoERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases.Webb SM, Kristensen J, Vitali D, van Klink S, van Beuzekom C, Santos A, Nordenström A2021-03-01EndoERN, Quality of life, Patient perception, Quality of care, Rare endocrine diseases, SurveyEndocrine
Patients' perception on the quality of care for multiple endocrine neoplasia disorders in Europe: an online survey from a patient support group.Drewitz KP, Grey J, Brügmann P, Pichl J, Sammarco M, Aarts M, van Genechten D, Brandi ML, Schaaf L2021-03-01Endocrine tumours, Multiple endocrine neoplasia, Patient report, Quality of care, Rare diseasesEndocrine
Molecular Differences Based on Erythrocyte Fatty Acid Profile to Personalize Dietary Strategies between Adults and Children with Obesity.Jauregibeitia I, Portune K, Gaztambide S, Rica I, Tueros I, Velasco O, Grau G, Martín A, Castaño L, Larocca AV, Di Nolfo F, Ferreri C, Arranz S2021-01-08lipid metabolism, mature erythrocyte, obesity, precision nutritionMetabolites
Clinical Unmet Needs in the Treatment of Adrenal Crisis: Importance of the Patient's Perspective.Claessen KMJA, Andela CD, Biermasz NR, Pereira AM2021-01-01adrenal crisis, adrenal insufficiency, cortisol, hydrocortisone replacement, mortality, patient’s perspective, quality of life, unmet needsFrontiers in endocrinology
Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry.Stancampiano MR, Lucas-Herald AK, Bryce J, Russo G, Barera G, Balsamo A, Baronio F, Bertelloni S, Valiani M, Cools M, Tack LJW, Darendeliler F, Poyrazoglu S, Globa E, Grinspon R, Hannema SE, Hughes IA, Tadokoro-Cuccaro R, Thankamony A, Iotova V, Mladenov V, Konrad D, Mazen I, Niedziela M, Kolesinska Z, Nordenström A, Ahmed SF2021-01-01Adolescent boys, DSD, Hypogonadism, TestosteroneSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Complete Remission of Advanced Adrenocortical Cancer Following Mitotane Monotherapy: A Case Report and Literature Review of Predictive Markers.Tőke J, Jakab Z, Stark J, Huszty G, Reismann P, Tóth M2021-01-01adrenocortical cancer, complete remission, mitotane, monotherapy, predictive markersFrontiers in oncology
Case Report: Complete Necrosis of a Large Adrenocortical Cancer and Liver Metastases Achieved by Selective Arterial Embolization: A Case Study and Review of Literature.Huszty G, Doros A, Farkas K, Kóbori L, Reismann P, Tőke J, Tóth M, Igaz P2021-01-01adrenocortical cancer, embolization, liver metastasis, necrosis, trans-arterialFrontiers in endocrinology
Educational and knowledge gaps within the European reference network on rare endocrine conditions.Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, Bratina N, Tillmann V, Hiort O, Pereira AM2021-01-01Endo-ERN, education, health care professionals, knowledge gaps, network, rare endocrine diseasesEndocrine connections
Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia.Ali SR, Bryce J, Haghpanahan H, Lewsey JD, Tan LE, Atapattu N, Birkebaek NH, Blankenstein O, Neumann U, Balsamo A, Ortolano R, Bonfig W, Claahsen-van der Grinten HL, Cools M, Costa EC, Darendeliler F, Poyrazoglu S, Elsedfy H, Finken MJJ, Fluck CE, Gevers E, Korbonits M, Guaragna-Filho G, Guran T, Guven A, Hannema SE, Higham C, Hughes IA, Tadokoro-Cuccaro R, Thankamony A, Iotova V, Krone NP, Krone R, Lichiardopol C, Luczay A, Mendonca BB, Bachega TASS, Miranda MC, Milenkovic T, Mohnike K, Nordenstrom A, Einaudi S, van der Kamp H, Vieites A, de Vries L, Ross RJM, Ahmed SF2021-01-0121-hydroxylase deficiency, adrenal crisis, adrenal insufficiency, congenital adrenal hyperplasia, registryThe Journal of clinical endocrinology and metabolism
[Systemic treatment of metastasized thyroid cancer-approved treatments and new approaches].Brandenburg T, Führer D2020-12-01Advanced differentiated thyroid carcinoma, Medullary thyroid cancer, Multi-kinase inhibitors, Radioiodine-refractory thyroid carcinoma, Selective treatmentDer Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1.Martínez de LaPiscina I, Mahmoud RA, Sauter KS, Esteva I, Alonso M, Costa I, Rial-Rodriguez JM, Rodríguez-Estévez A, Vela A, Castano L, Flück CE2020-11-13AMH, DSD, FOG2, NR5A1/SF1, STAR, disorder/difference of sex development, genotype–phenotype correlation, oligogenic disorders, steroidogenic factor 1International journal of molecular sciences
Incidence and regression of metabolic syndrome in a representative sample of the Spanish population: results of the cohort di@bet.es study.Cuesta M, Fuentes M, Rubio M, Bordiu E, Barabash A, Garcia de la Torre N, Rojo-Martinez G, Valdes S, Soriguer F, Vendrell JJ, Urrutia IM, Ortega E, Montanya E, Menendez E, Lago-Sampedro A, Gomis R, Goday A, Castell C, Badia-Guillen R, Girbés J, Gaztambide S, Franch-Nadal J, Delgado Álvarez E, Chaves FJ, Castano L, Calle-Pascual AL2020-10-01epidemiology, lifestyle, metabolic syndromeBMJ open diabetes research & care
Prevalence and progression of aortic dilatation in adult patients with Turner syndrome: a cohort study.Donadille B, Tuffet S, Cholet C, Nedelcu M, Bourcigaux N, Iserin L, Monnier-Cholley L, Rousseau A, Christin-Maitre S2020-10-01European journal of endocrinology
Global longitudinal strain as a marker for systolic function in patients with pheochromocytomas.Elenkova A, Shabani R, Kinova E, Vasilev V, Goudev A, Zacharieva S2020-10-01catecholamine-induced cardiomyopathy, global longitudinal strain, pheochromocytoma, strain echocardiographyEndocrine-related cancer
Consensus clinical management guidelines for Alström syndrome.Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T2020-09-21Alström syndrome, Blindness, Cardiomyopathy, Deafness, Guidelines, Insulin resistance, Non-alcoholic fatty liver disease, Obesity, Rare diseaseOrphanet journal of rare diseases
Correction to: MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.Amodru V, Taieb D, Guerin C, Romanet P, Paladino N, Brue T, Cuny T, Barlier A, Sebag F, Castinetti F2020-09-01Endocrine
MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.Amodru V, Taieb D, Guerin C, Romanet P, Paladino N, Brue T, Cuny T, Barlier A, Sebag F, Castinetti F2020-09-01Adrenal sparing surgery, Adrenalectomy, Medullary thyroid cancer, Multiple endocrine neoplasia type 2, Pheochromocytoma, RETEndocrine
An overview of clinical activities in Endo-ERN: the need for alignment of future network criteria.de Vries F, Bruin M, Cersosimo A, van Beuzekom CN, Ahmed SF, Peeters RP, Biermasz NR, Hiort O, Pereira AM2020-08-01European journal of endocrinology
Correction to: MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.Amodru V, Taieb D, Guerin C, Romanet P, Paladino N, Brue T, Cuny T, Barlier A, Sebag F, Castinetti F2020-07-14Endocrine
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.Balsamo A, Baronio F, Ortolano R, Menabo S, Baldazzi L, Di Natale V, Vissani S, Cassio A2020-01-0111-hydroxylase deficiency, 17-hydroxylase/17-20 lyase deficiency, 20–22-desmolase deficiency, 21-hydroxylase deficiency, 3-beta hydroxysteroid dehydrogenase deficiency, P-450 oxydoreductase deficiency, StAR deficiency, newbornFrontiers in pediatrics
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.Karlsson L, de Paula Michelatto D, Lusa ALG, D'Almeida Mgnani Silva C, Östberg LJ, Persson B, Guerra-Júnior G, Valente de Lemos-Marini SH, Baldazzi L, Menabó S, Balsamo A, Greggio NA, Palandi de Mello M, Barbaro M, Lajic S2019-11-0121-hydroxylase, Congenital adrenal hyperplasia, Functional studies, Synergistic effectsClinical biochemistry
How can we make pregnancy safe for women with Turner syndrome?Donadille B, Bernard V, Christin-Maitre S2019-03-01Turner syndrome, aortic dissection, fertility, mortality, pregnancyAmerican journal of medical genetics. Part C, Seminars in medical genetics
Evaluation of DSD training schools organized by cost action BM1303 "DSDnet".Bertalan R, Lucas-Herald A, Kolesinska Z, Berra M, Cools M, Balsamo A, Hiort O2018-12-18COST action BM1303, Differences of sex development network, European Cooperation in Science and Technology, Training schoolOrphanet journal of rare diseases
Bone metastasis located on foot as a clinical presentation of an adrenocortical carcinoma.Bellido V, Larrañaga I, Vazquez F, Velasco V, Gaztambide S2018-08-01Endocrinologia, diabetes y nutricion
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Last update: July 13th, 2024 on 01:30