| "Management of andrological disorders from childhood and adolescence to transition age: guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS) in collaboration with the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP)-Part-1". | Bonomi M, Cangiano B, Cianfarani S, Garolla A, Gianfrilli D, Lanfranco F, Rastrelli G, Sbardella E, Corona G, Isidori AM, Rochira V | 2024-08-10 | Adolescence andrology, Andrological diseases, Childhood andrology, Transition andrology, Transition guidelines, Transitional age | Journal of endocrinological investigation |
| Adrenal Cushing Syndrome: Diagnosis and Management in a 10-Year-Old Boy with Carney Complex. | Corica D, Lugarà C, Bertherat J, Pasmant E, Valenzise M, Pepe G, Ferraù F, Cannavò S, Aversa T, Wasniewska MG | 2024-08-05 | Children, Cushing syndrome, Hypercortisolaemia, Metyrapone, PRKAR1A gene | Hormone research in paediatrics |
| Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. | Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D | 2024-07-31 | | European journal of human genetics : EJHG |
| 46,ΧΥ DSD in an adolescent with a novel de novo variant of the NR5A1 gene - case report and literature review. | Kostopoulou E, Eliades A, Papatheodoropoulou A, Sertedaki A, Sinopidis X, Tzelepi V, Jang S, Seo GH, Chrysis D | 2024-07-25 | 46, Disorders of sex development (DSD), NR5A1, SF1, Variant, XY | Hormones (Athens, Greece) |
| ERRATUM: 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, Carlos Percovich Hualpa J, García-Centeno R, González-Fernández L, Dolores Ollero García M, Irigaray Echarri A, Dolores Moure Rodríguez M, 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, Alexandra Hanzu F, Aldecoa I, Aznar S, Lamas C, Aulinas A, Asla Q, Gracia Gimeno P, María Recio-Córdova J, Dolores Avilés-Pérez M, Asensio-Wandosell D, Sampedro-Núñez M, Cámara R, Paja Fano M, Ruz-Caracuel I, Fajardo C, Marazuela M, Puig-Domingo M | 2024-07-25 | | Endocrine-related cancer |
| [68Ga]Ga-FAPI versus 2-[18F]FDG PET/CT in patients with autoimmune thyroiditis: a case control study. | Pabst KM, Kessler L, Ferdinandus J, Hamacher R, Bartel T, Siveke JT, Nader M, Brandenburg T, Desaulniers M, Herrmann K, Fendler WP | 2024-07-18 | | EJNMMI research |
| Diagnosis and management of children and adult craniopharyngiomas: a French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement. | Cuny T, Reynaud R, Raverot G, Coutant R, Chanson P, Kariyawasam D, Poitou C, Thomas-Teinturier C, Baussart B, Samara-Boustani D, Feuvret L, Villanueva C, Villa C, Bouillet B, Tauber M, Espiard S, Castets S, Beckers A, Amsellem J, Vantyghem MC, Delemer B, Chevalier N, Brue T, André N, Kerlan V, Graillon T, Raingeard I, Alapetite C, Raverot V, Salenave S, Boulin A, Appay R, Dalmas F, Fodil S, Coppin L, Buffet C, Thuillier P, Castinetti F, Vogin G, Cazabat L, Kuhn E, Haissaguerre M, Reznik Y, Goichot B, Bachelot A, Kamenicky P, Decoudier B, Planchon C, Micoulaud-Franchi JA, Romanet P, Jacobi D, Faucher P, Carette C, Bihan H, Drui D, Rossignol S, Gonin L, Sokol E, Wiard L, Courtillot C, Nicolino M, Grunenwald S, Chabre O, Christin-Maître S, Desailloud R, Maiter D, Guignat L, Brac de la Perrière A, Salva P, Scavarda D, Bonneville F, Caron P, Vasiljevic A, Cortet C, Gaillard S, Albarel F, Clément K, Jouanneau E, Dufour H, Barat P, Gatta-Cherifi B | 2024-07-11 | craniopharyngioma, hypopituitarism, hypothalamic syndrome, pituitary surgery, radiotherapy | Annales d'endocrinologie |
| Reply to: the utility of gallium-68 PET/CT in MEN1 related parathyroid disease. | Kostiainen I, Schildt J, Parviainen H, Ryhänen EM, Schalin-Jäntti C | 2024-07-02 | MEN1, PET, SSTR, parathyroid | European 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 M | 2024-07-01 | acromegaly, pasireotide, pegvisomant, pituitary neuroendocrine tumors, prolactin | Endocrine-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 M | 2024-06-28 | Acromegaly, Diabetes mellitus, Glucose levels, HbA1c, Pituitary adenoma, Remission, Somatotropinoma | Pituitary |
| [Thyroid carcinomas: the role of systemic therapies in internal medicine]. | Brandenburg T, Kroiß M | 2024-06-20 | Molecular targeted therapy, Redifferentiation, Thyroid cancer, differentiated, Thyroid cancer, medullary, Thyroid carcinoma, anaplastic | Innere Medizin (Heidelberg, Germany) |
| [Gastrointestinal neuroendocrine tumors: update 2024]. | Lahner H, Pavel M | 2024-06-20 | Molecular targeted therapy, Radiofrequency ablation, Radioligand therapy, Somatostatin analogues, Tyrosine kinase inhibitors | Innere 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 IR | 2024-06-12 | | Anales 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 M | 2024-06-12 | | The 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 E | 2024-06-07 | Acromegaly, Cardiac magnetic resonance, Cardiomyopathy, Growth hormone, IGF1, Myocardial hypertrophy | Pituitary |
| 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 RH | 2024-06-01 | | The 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 E | 2024-05-22 | Cardiac magnetic resonance, Cardiomyopathy, Cushing’s syndrome, Glucocorticoid, Heart, Hypercortisolism | Endocrine |
| 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 D | 2024-05-21 | Bone, Bone-testicular axis, Gonadotropins, Klinefelter syndrome, Osteocalcin, Testis, Testosterone | Journal 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 M | 2024-05-21 | acromegaly, cabergoline, dopamine agonist, first-line treatment, prolactin, somatostatin receptor ligand | European 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 PF | 2024-05-15 | | European 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 CE | 2024-04-16 | Differences of sex development (DSD), Steroidogenic factor 1 (SF-1/NR5A1), broad phenotype, genotype-phenotype correlation | The 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 I | 2024-04-13 | Acromegaly, Coping strategies, HRQoL, Health variables | Endocrine |
| Epigenetic/circadian clocks and PCOS. | Vatier C, Christin-Maitre S | 2024-04-10 | DNA methylation, PCOS, circadian clock gene, epigenetic changes, genome-wide association studies, hyperandrogenism, metabolic syndrome, polycystic ovary syndrome, reproductive-aged women | Human 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 C | 2024-04-03 | HELIX syndrome, claudin-10, epithelium, kidney, thick ascending limb of the loop of Henle, tight junction, transcriptional profiling | International 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 D | 2024-04-01 | diabetes mellitus, epidemiology, periodontitis, risk factor | Journal 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 E | 2024-04-01 | GH, Gigantism, Tall stature, Transition age | Journal 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 M | 2024-03-30 | acromegaly, growth hormone–secreting pituitary adenoma, magnetic resonance imaging, positron emission tomography | European 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 A | 2024-03-30 | craniopharyngioma, glucagon-like peptide-1 analogs, hypothalamic obesity, lifestyle intervention | European journal of endocrinology |
| Hypomagnesemia, a diagnosis to consider. | Pérez-Pérez A, Courel Del Río V, García Fernández S, Castaño González L, Riaño Galán I | 2024-03-28 | | Anales 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 AM | 2024-03-28 | adrenal insufficiency, dual‐release hydrocortisone, erectile dysfunction, sexual function | Andrology |
| 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 MF | 2024-03-27 | 17-OHP, 21-hydroxylase deficiency (21-OHD), ACTH, Congenital adrenal hyperplasia (CAH), Nephrolithiasis | Endocrine |
| 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 JGJ | 2024-03-22 | CNNM2, Genetic hypomagnesaemia, Intellectual disability, Variant characterisation | Scientific reports |
| Approach to the Patient with Bilateral Adrenal Masses. | Vassiliadi DA, Delivanis DA, Papalou O, Tsagarakis S | 2024-03-13 | adrenal mass, cortisol excess, hormonal work up, imaging, malignancy, pheochromocytoma | The 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 R | 2024-03-05 | Arginine vasopressin deficiency, Elderly, Growth hormone deficiency, Hypopituitarism, Pituitary deficiency, Pregnancy | Annales d'endocrinologie |
| [Precision medicine in endocrinology exemplified by medullary thyroid cancer]. | Brandenburg T, Machlah YM, Führer D | 2024-03-01 | Calcitonin, Desmoplasia, Multiple endocrine neoplasia, Proto-oncogene RET, Selective RET-kinase inhibitors | Innere 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 R | 2024-02-22 | Adrenal incidentaloma, Hypothalamus–pituitary–adrenal axis, Mild autonomous cortisol secretion, Non-aldosterone-producing adrenocortical adenoma, Postoperative hypocortisolism, Recovery | Journal 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 A | 2024-02-05 | HNF1A mutations, MODY diabetes, Ovary, Premature menopause, Premature ovarian failure | Hormones (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 G | 2024-02-01 | C-peptide, Continuous glucose monitoring, Diabetes monogénica, Gen de la insulina, Insulin gene, Monitorización continua de glucosa, Monogenic diabetes, Péptido C | Endocrinologia, 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 B | 2024-01-30 | craniopharyngioma, endoscopy, hypothalamic perforation, hypothalamus, surgery, targeted therapy | The Journal of clinical endocrinology and metabolism |
| [Diagnosis of adrenocortical carcinoma]. | Tőke J, Tóth M | 2024-01-28 | adrenocortical carcinoma, diagnostics, diagnosztika, mellékvesekéreg-carcinoma, non-invasive biomarkers, noninvazív biomarkerek, szöveti biomarkerek, tissue biomarkers | Orvosi 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 D | 2024-01-09 | 47, XXY, 48, XXXY, 48, XXYY, 49, XXXXY, 49, XXXYY, HGA, Klinefelter syndrome, X chromosome, aneuploidy, sex chromosomes | The 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 LCG | 2024-01-01 | Prader-Willi Syndrome, cardiovascular disease, kidney disease, kidney function tests, proteinuria, urine tract infections | Frontiers 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 N | 2024-01-01 | | Hormone 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 CE | 2024-01-01 | Broad 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 G | 2024-01-01 | male fertility, obesity, overweight, semen aparameters, sperm concentration and motility | Andrology |
| 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 M | 2024-01-01 | autoimmunity, 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 J | 2024-01-01 | | PloS one |
| Risk for progression to type 1 diabetes in first-degree relatives under 50 years of age. | Urrutia I, Martinez R, Calvo B, Marcelo I, Saso-Jimenez L, Martinez de Lapiscina I, Bilbao JR, Castano L, Rica I | 2024-01-01 | autoimmunity, first-degree relatives, pancreatic autoantibodies, prediction, risk, type 1 diabetes | Frontiers in endocrinology |
| 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 KMA | 2023-12-20 | Breast development, Breast volume, Estradiol, Gender-affirming hormone therapy, Progesterone, Transgender | BMC 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 B | 2023-12-19 | AIRE, APS-1, Jak inhibitor, Ruxolitinib | Journal 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 MP | 2023-12-15 | FGF21, NOV/CCN3, adipokines, obesity, red blood cell fatty acid, regression analysis | Biomedicines |
| 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 F | 2023-12-12 | Genetic 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 AM | 2023-12-01 | adrenal insufficiency, bone metabolism, dual-release hydrocortisone, glucocorticoids, osteoporosis, trabecular bone score | Journal 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 A | 2023-12-01 | Adrenergic phenotype, Aerobic glycolysis, Impaired insulin secretion, Noradrenergic phenotype, PPGLs, Secondary diabetes mellitus | Endocrine |
| 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 M | 2023-12-01 | | Annales d'endocrinologie |
| Hypercalcemia in patients with mutations in NR3C2 and SCNN1B. | Sainz de Los Terreros Errea A, Madariaga L, García-Castaño A | 2023-11-24 | | Medicina 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 LCG | 2023-11-17 | Turner syndrome, adult, fatigue, internal medicine, psychological, stress | The 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 LCG | 2023-11-17 | Prader-Willi syndrome, comorbidity, hypothalamo-hypophyseal system, neoplasms | The 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 B | 2023-11-01 | Adenoma, Complications, Elderly, Endoscopy, PitNET, Pituitary surgery | Acta 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 AM | 2023-10-18 | | The 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 L | 2023-10-18 | HLA-DRB1 genotype, adult-onset diabetes, autoimmune diabetes, early-onset diabetes, pancreatic-autoantibodies | The 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 HL | 2023-10-17 | congenital adrenal hyperplasia, diagnosis, early childhood, testicular adrenal rest tumors | European 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 HM | 2023-10-01 | childhood, early onset, hypothalamic dysfunction, patient perspective, suprasellar brain tumors | Endocrine connections |
| COVID-19 pandemic and adrenals: deep insights and implications in patients with glucocorticoid disorders. | Cozzolino A, Hasenmajer V, Newell-Price J, Isidori AM | 2023-10-01 | Adrenal insufficiency, Adrenals, Covid-19, Cushing’s syndrome, Glucocorticoids | Endocrine |
| 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 A | 2023-09-28 | | Scientific 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 A | 2023-09-05 | | Scientific 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 G | 2023-09-01 | EORTC QLQ-C30, instrument, quality of life, questionnaire, thyroid cancer, thyroid-specific, validation | Thyroid : 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 M | 2023-08-18 | Spain, acromegaly, elderly, mortality, older | The 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 S | 2023-08-18 | Turner syndrome, hormone replacement therapy, liver enzymes, liver fibrosis, primary ovarian insufficiency, steatosis | The 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 E | 2023-08-16 | Biomarkers, 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 M | 2023-08-13 | ACTH-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’ gén | Orvosi 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 L | 2023-08-03 | | Scientific reports |
| Thyrotropin-secreting tumor "TSH-PitNET": From diagnosis to treatment. | Briet C, Suteau V, Illouz F, Rodien P | 2023-08-01 | Diagnosis, Pituitary adenoma, TSH secreting tumor, TSH-PitNET, Treatment | Annales d'endocrinologie |
| [Aggressive pituitary adenoma and pituitary carcinoma]. | Tóth M | 2023-07-30 | diagnosis, diagnózis, drug therapy, gyógyszeres kezelés, hypophysisadenoma, hypophysiscarcinoma, pituitary adenoma, pituitary carcinoma, radiotherapy, sugárkezelés | Orvosi 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 SF | 2023-06-01 | 21-hydroxylase deficiency, Co-morbidities, Congenital adrenal hyperplasia, Outcome, Registry | Endocrine |
| 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 S | 2023-04-01 | CAH, brain development, dexamethasone, first trimester, prenatal treatment, treatment safety | Endocrine 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 N | 2023-04-01 | Cushing’s syndrome, SARS-CoV-2, adrenal insufficiency, glucocorticoids | Endocrine 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 MS | 2023-03-01 | | Endocrinologia, 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 NR | 2023-02-01 | Endo-ERN, pituitary disease, quality of care, survey, transition of care | Endocrine 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 LCG | 2023-01-01 | Neurofibromatosis type 1 (NF1), adult, endocrinology, fatigue, internal medicine | Frontiers 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 LCG | 2023-01-01 | Prader-Willi Syndrome, cardiovascular disease, kidney disease, kidney function tests, proteinuria, urine tract infections | Frontiers in endocrinology |
| New perspectives in functional hypogonadotropic hypogonadism: beyond late onset hypogonadism. | Spaziani M, Carlomagno F, Tarantino C, Angelini F, Vincenzi L, Gianfrilli D | 2023-01-01 | HIV, diabetes, drugs, functional hypogonadotropic hypogonadism, gonadotropins, late onset hypogonadism, low energy availability, obesity | Frontiers 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 CE | 2023-01-01 | | PloS 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 SM | 2023-01-01 | Cushing's disease, Cushing's syndrome, cardiovascular risk, gut microbiota | Frontiers 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 CA | 2023-01-01 | Androgen insensitivity syndrome, Differences of sex development, Disorders of sex development, Partial androgen insensitivity syndrome, Puberty | Sexual 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 M | 2023-01-01 | adrenal crisis, adrenal insufficiency, child, cortisol, hydrocortisone | Frontiers 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 JA | 2023-01-01 | | PloS 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 NR | 2023-01-01 | Endo-ERN, pituitary, registry, surgery | Endocrine 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 M | 2023-01-01 | Atlo-occipital decompression surgery, Chiari type 1 malformation, GH therapy, Systematic literature review | Hormone 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 LCG | 2022-12-17 | Prader–Willi syndrome, bone density, hormone replacement therapy, human growth hormone, osteoporosis, scoliosis | The 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 L | 2022-12-09 | | Medicina 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 E | 2022-12-01 | MODY, diabetes mellitus classification, genetics, monogenic, neonatal diabetes | Pediatric 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 S | 2022-12-01 | | European 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 E | 2022-11-01 | | International 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 M | 2022-11-01 | | Journal 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 N | 2022-11-01 | biomarkers, congenital adrenal hyperplasia, hydrocortisone, linear mixed-effects models | Clinical 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 N | 2022-11-01 | catecholamines, clonidine suppression test, metanephrine, normetanephrine, pheochromocytoma | Clinical 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 M | 2022-08-01 | Antibodies, Heterologous vaccination, Neutralisation, SARS-CoV-2, Variants | EClinicalMedicine |
| 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 LCG | 2022-07-12 | Prader–Willi syndrome, genetic variation, genetics, genotype, health problems, mutism, paternal deletion, phenotype, uniparental disomy | Journal 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 MCA | 2022-05-01 | | Endocrinologia, diabetes y nutricion |
| 25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics. | Castano L, Madariaga L, Grau G, García-Castaño A | 2022-04-29 | calcifediol, genetic forms of rickets, nutritional rickets, vitamin D deficiency, vitamin D treatment | Nutrients |
| 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 OM | 2022-04-21 | | European journal of endocrinology |
| Graves' Disease in the Young: Could We Change the Weather? | Rodien P | 2022-04-19 | Graves’ disease, adolescents, children, rituximab, thionamide, thyrotoxicosis | The 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 AM | 2022-03-24 | | Endocrine 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 A | 2022-02-17 | GH therapy, children, craniopharyngioma, hypothalamic obesity, intracranial tumor, pituitary deficiency | The 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 WE | 2022-02-17 | AHDS, Allan-Herndon-Dudley syndrome, MCT8 deficiency, T3 analogue, thyromimetic drug | The 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 A | 2022-02-08 | atomic force microscopy, cell membrane physical properties, fluorescence polarization, lipidomics, membrane breakthrough force, membrane fluidity, obesity | International 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 ER | 2022-02-01 | Diagnostic assay, Genomic imprinting, Imprinting disorders, Methylation, Multilocus imprinting disturbance | Genetics 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 M | 2022-01-01 | Adrenocortical cancer, mitotane, overall survival, prognostic markers, single centre experience | Frontiers 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 M | 2022-01-01 | autoimmunity, 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 ASP | 2022-01-01 | Graves’ disease, antithyroid drugs, childhood, clinical practice guideline, management, pediatric, radioactive iodine, total thyroidectomy | European 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 LCG | 2021-12-10 | Prader-Willi syndrome, estrogens, hypogonadism, hypothalamus, menstrual cycle, obesity, pituitary gland, puberty | Journal 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 BMK | 2021-12-01 | | The lancet. Diabetes & endocrinology |
| Genetics of human sexual development and related disorders. | Martinez de LaPiscina I, Flück CE | 2021-12-01 | | Current 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 D | 2021-11-01 | BRAF V600E, Dabrafenib, Primary squamous cell carcinoma of the thyroid, Trametinib | European 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 C | 2021-11-01 | AIRE 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 autoantibodies | Journal 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 L | 2021-10-01 | ATP6V0A4, ATP6V1B1, Distal renal tubular acidosis, Genotype-phenotype correlation, Growth, Long-term outcome, SLC4A1 | Pediatric 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 LCG | 2021-09-24 | Prader-Willi syndrome, hypogonadism, obesity, pituitary gland, puberty, testosterone | Journal 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 L | 2021-08-27 | | European 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 J | 2021-08-12 | | Scientific 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 F | 2021-07-21 | COVID-19, Obesity, Oxytocin, Prader-Willi syndrome, SARS-CoV-2 | Orphanet 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 C | 2021-07-13 | G protein–coupled receptors, Thyroid cancer, follicular, molecular targeted therapies, papillary, prognostic factor, thyroid cancer | The 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 J | 2021-07-10 | | Lancet (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 L | 2021-07-01 | Acidosis tubular renal distal, Correlación genotipo-fenotipo, Distal renal tubular acidosis, Genotype-phenotype correlation, Tratamiento, Treatment | Nefrologia |
| 5-Alpha-reductase type 2 deficiency. A new case in the Spanish population. | González Fenández M, Antonio IE, Martín IMP, Martínez JS, Almaraz MCA | 2021-06-14 | | Endocrinologia, diabetes y nutricion |
| Cushing Disease with Glucocorticoid-induced Positive Feedback-A New Subtype of Pituitary Corticotropinomas? | Tóth M | 2021-06-01 | Cushing disease, glucocorticoid-induced positive feedback | Journal of the Endocrine Society |
| Heart and Turner syndrome. | Donadille B, Christin-Maitre S | 2021-06-01 | Aortic 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 bicuspide | Annales 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 S | 2021-04-23 | children, inflammation, lipidomics, mature erythrocyte membrane, metabolically healthy obesity | Journal 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 N | 2021-04-01 | | Journal 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 JP | 2021-04-01 | Beta cell autoimmunity, Childhood growth, Genetic risk, Length, Type 1 diabetes, Weight | Diabetologia |
| 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 NP | 2021-04-01 | | European 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 M | 2021-03-08 | Addison’s disease, Primary adrenal insufficiency, adrenal crisis, adult height | The 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 N | 2021-03-01 | Adrenal crisis, Adrenal insufficiency, Congenital adrenal hyperplasia, Glucocorticoid replacement, Hydrocortisone, Stress instructions | Endocrine |
| 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 O | 2021-03-01 | Education, Endo-ERN, European patient advocacy group, Parents/caregivers, Patients, Rare endocrine disease | Endocrine |
| Update on primary bilateral macronodular adrenal hyperplasia (PBMAH). | Bouys L, Chiodini I, Arlt W, Reincke M, Bertherat J | 2021-03-01 | ARMC5, Cushing syndrome, GPCR, PBMAH, Primary bilateral macronodular adrenal hyperplasia, illegitimate receptors | Endocrine |
| 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 P | 2021-03-01 | Alström syndrome, ENDO-ERN, Monogenetic diabetes, PBI-4050, Rare disease network, Setmelanotide | Endocrine |
| 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 A | 2021-03-01 | EndoERN, Quality of life, Patient perception, Quality of care, Rare endocrine diseases, Survey | Endocrine |
| 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 L | 2021-03-01 | Endocrine tumours, Multiple endocrine neoplasia, Patient report, Quality of care, Rare diseases | Endocrine |
| 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 S | 2021-01-08 | lipid metabolism, mature erythrocyte, obesity, precision nutrition | Metabolites |
| Clinical Unmet Needs in the Treatment of Adrenal Crisis: Importance of the Patient's Perspective. | Claessen KMJA, Andela CD, Biermasz NR, Pereira AM | 2021-01-01 | adrenal crisis, adrenal insufficiency, cortisol, hydrocortisone replacement, mortality, patient’s perspective, quality of life, unmet needs | Frontiers 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 SF | 2021-01-01 | Adolescent boys, DSD, Hypogonadism, Testosterone | Sexual 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 M | 2021-01-01 | adrenocortical cancer, complete remission, mitotane, monotherapy, predictive markers | Frontiers 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 P | 2021-01-01 | adrenocortical cancer, embolization, liver metastasis, necrosis, trans-arterial | Frontiers 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 AM | 2021-01-01 | Endo-ERN, education, health care professionals, knowledge gaps, network, rare endocrine diseases | Endocrine 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 SF | 2021-01-01 | 21-hydroxylase deficiency, adrenal crisis, adrenal insufficiency, congenital adrenal hyperplasia, registry | The Journal of clinical endocrinology and metabolism |
| [Systemic treatment of metastasized thyroid cancer-approved treatments and new approaches]. | Brandenburg T, Führer D | 2020-12-01 | Advanced differentiated thyroid carcinoma, Medullary thyroid cancer, Multi-kinase inhibitors, Radioiodine-refractory thyroid carcinoma, Selective treatment | Der 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 CE | 2020-11-13 | AMH, DSD, FOG2, NR5A1/SF1, STAR, disorder/difference of sex development, genotype–phenotype correlation, oligogenic disorders, steroidogenic factor 1 | International 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 AL | 2020-10-01 | epidemiology, lifestyle, metabolic syndrome | BMJ 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 S | 2020-10-01 | | European 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 S | 2020-10-01 | catecholamine-induced cardiomyopathy, global longitudinal strain, pheochromocytoma, strain echocardiography | Endocrine-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 T | 2020-09-21 | Alström syndrome, Blindness, Cardiomyopathy, Deafness, Guidelines, Insulin resistance, Non-alcoholic fatty liver disease, Obesity, Rare disease | Orphanet 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 F | 2020-09-01 | | Endocrine |
| 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 F | 2020-09-01 | Adrenal sparing surgery, Adrenalectomy, Medullary thyroid cancer, Multiple endocrine neoplasia type 2, Pheochromocytoma, RET | Endocrine |
| 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 AM | 2020-08-01 | | European 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 F | 2020-07-14 | | Endocrine |
| 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 A | 2020-01-01 | 11-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, newborn | Frontiers 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 S | 2019-11-01 | 21-hydroxylase, Congenital adrenal hyperplasia, Functional studies, Synergistic effects | Clinical biochemistry |
| How can we make pregnancy safe for women with Turner syndrome? | Donadille B, Bernard V, Christin-Maitre S | 2019-03-01 | Turner syndrome, aortic dissection, fertility, mortality, pregnancy | American 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 O | 2018-12-18 | COST action BM1303, Differences of sex development network, European Cooperation in Science and Technology, Training school | Orphanet 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 S | 2018-08-01 | | Endocrinologia, diabetes y nutricion |
