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Oral Glucose has Little or no Effect on Appetite and Satiety Sensations Despite a Significant Gastrointestinal Response. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-30 Julius V Lauritsen,Natasha Bergmann,Anders E Junker,Mette Gyldenløve,Lone Skov,Lise L Gluud,Bolette Hartmann,Jens J Holst,Tina Vilsbøll,Filip K Knop
OBJECTIVE The effect of oral glucose-induced release of gastrointestinal hormones on satiety and appetite independently of prevailing plasma glucose excursions is unknown. The objective is to investigate the effect of oral glucose on appetite and satiety sensations as compared to isoglycemic IV glucose infusion (IIGI) in healthy volunteers. DESIGN A crossover study involving two study days for each
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Metabolomic profile of neuroendocrine tumors (NETs) identifies methionine, porphyrin and tryptophan metabolism as key dysregulated pathways associated with patient survival. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-30 A La Salvia,A Lens-Pardo,A López-López,C Carretero-Puche,J Capdevila,M Benavent,P Jiménez-Fonseca,D Castellano,T Alonso,A Teule,Ana Custodio,Salvatore Tafuto,Adelaida La Casta,Francesca Spada,A Lopez-Gonzalvez,B Gil-Calderon,P Espinosa-Olarte,C Barbas,R Garcia-Carbonero,B Soldevilla
OBJECTIVE Metabolic profiling is a valuable tool to characterize tumor biology but remains largely unexplored in neuroendocrine tumors (NETs). Our aim was to comprehensively assess the metabolomic profile of NETs and identify novel prognostic biomarkers and dysregulated molecular pathways. DESIGN AND METHODS Multiplatform untargeted metabolomic profiling (GC-MS, CE-MS and LC-MS) was performed in plasma
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Age-Related Variation in Malignant Cytology Rates of Thyroid Nodules: Insights from a Retrospective Observational Study Assessing the ACR TI-RADS. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-30 Leonardo Barbi Walter,Paula Martins Fernandes,Débora Lunkes Strieder,Anita Lavarda Scheinpflug,André Borsatto Zanella,Carlo Sasso Faccin,Mauricio Farenzena,Laura Fernandes Xavier,Bianca Dalla Costa Zorzi,Marcia Silveira Graudenz,Rafael Selbach Scheffel,José Miguel Dora,Iuri Martin Goemann,Ana Luiza Maia
OBJECTIVE The influence of age on the malignant cytology rate of thyroid nodules remains uncertain. The American College of Radiology - Thyroid Imaging Reporting and Data System (ACR TI-RADS) is currently used to guide subsequent investigations of thyroid nodules, regardless of clinical variables. This study aimed to investigate the impact of age on the malignant cytology rates of thyroid nodules and
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Reply to the letter to the editor from Piazzola and Castinetti: 'Bilateral inferior petrosal sinus sampling with human CRH stimulation in ACTH dependent Cushing's syndrome: results from a retrospective multicenter study'. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-13 Mario Detomas,Timo Deutschbein
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Genetic testing in prolactinomas: a cohort study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-13 Amina Boukerrouni,Thomas Cuny,Thibaut Anjou,Isabelle Raingeard,Amandine Ferrière,Solange Grunenwald,Jean-Christophe Maïza,Emeline Marquant,Nicolas Sahakian,Sarah Fodil-Cherif,Laurence Salle,Patricia Niccoli,Hanitra Randrianaivo,Emmanuel Sonnet,Nicolas Chevalier,Philippe Thuillier,Delphine Vezzosi,Rachel Reynaud,Henry Dufour,Thierry Brue,Antoine Tabarin,Brigitte Delemer,Véronique Kerlan,Frédéric Castinetti
BACKGROUND Prolactinomas represent 46 to 66% of pituitary adenomas, but the prevalence of germline mutations is largely unknown. We present here the first study focusing on hereditary predisposition to prolactinoma. OBJECTIVE We studied the prevalence of germline mutations in a large cohort of patients with isolated prolactinomas. MATERIALS AND METHODS A retrospective study was performed combining
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Predisposing factors for adrenal crisis in chronic adrenal insufficiency: a case-control study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Irina Chifu,Stephanie Burger-Stritt,Anna Schrader,Sabine Herterich,Janik Freytag,Max Kurlbaum,Nora Vogg,Johanna Werner,Marcus Quinkler,Stefanie Hahner
OBJECTIVE This study aims to identify susceptibility markers for adrenal crises (AC) in educated patients with chronic adrenal insufficiency (AI). DESIGN A case-control study involving 66 patients with AI analyzing the impact of glucocorticoid and mineralocorticoid exposure, adrenomedullary function, inflammatory parameters, and educational status on AC frequency. Patients were categorized into low
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Associations between body composition and the risk of fracture according to bone mineral density in postmenopausal women: a population-based database cohort study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Jeongmin Lee,Jin-Hyung Jung,Jinyoung Kim,Chaiho Jeong,Jeonghoon Ha,Min-Hee Kim,Jung-Min Lee,Sang-Ah Chang,Ki-Hyun Baek,Kyungdo Han,Dong-Jun Lim
OBJECTIVE We aimed to investigate the associations of body composition and the risk of fracture in postmenopausal women, stratified based on bone mineral density. METHODS A population-based cohort study using the database of the National Screening Program for Transitional Ages with women aged 66 years was performed. Bone mineral density was categorized as normal, osteopenia, and osteoporosis. The following
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Inflammation-based scores in benign adrenocortical tumours are linked to the degree of cortisol excess: a retrospective single-centre study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Vittoria Favero,Alessandro Prete,Alessandra Mangone,Yasir S Elhassan,Valentina Pucino,Miriam Asia,Rowan Hardy,Iacopo Chiodini,Cristina L Ronchi
OBJECTIVE Benign adrenocortical tumours are diagnosed in ∼5% of adults and are associated with cortisol excess in 30%-50% of cases. Adrenal Cushing's syndrome (CS) is rare and leads to multiple haematological alterations. However, little is known about the effects of the much more frequent mild autonomous cortisol secretion (MACS) on immune function. The aim of this study was to evaluate the haematological
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Look left, look right: censoring in clinical research. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Rolf H H Groenwold,Olaf M Dekkers
In this methodology editorial, the problem of censored survival (or time-to-event) data in clinical research is discussed. In case of censored observations, part of the observation time for some participants in a study is unobserved, which means that measures such as an average survival time cannot be calculated. Instead, censored survival time should explicitly be accounted for in the analysis of
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A simple fragility fracture risk score for type 2 diabetes patients: a derivation, validation, comparison, and risk stratification study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Fengning Chuan,Youyuan Gao,Kun Liao,Xin Ye,Mei Mei,Wenqing Tian,Rong Li,Bo Zhou
OBJECTIVES The aims of this study were to develop and validate 2 simple scores for stratification of the risks of (1) any fragility (AF) and (2) major osteoporotic fracture (MOF) in type 2 diabetes (T2D) patients; we also compared the performance of these scores with that of the Fracture Risk Assessment Tool (FRAX) and its adjustments. DESIGN AND METHODS In this longitudinal cohort study, 1855 patients
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Investigating effectiveness of gender-affirming care: study design considerations. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Michael Goodman,Lachlan Angus
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Glucose pattern in children with classical congenital adrenal hyperplasia: evidence from continuous glucose monitoring. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Alfonso Galderisi,Dulanjalee Kariyawasam,Athanasia Stoupa,Adrien Nguyen Quoc,Graziella Pinto,Magali Viaud,Severine Brabant,Jacques Beltrand,Michel Polak,Dinane Samara-Boustani
BACKGROUND While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia and the daily glucose patterns in CAH. Herein, we explored the daytime glucose profile of children with classical CAH. METHODS We conducted an observational study in 11 children (6
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Responses to systemic therapy in metastatic pheochromocytoma/paraganglioma: a retrospective multicenter cohort study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Alessa Fischer,Simon Kloos,Hanna Remde,Ulrich Dischinger,Christina Pamporaki,Henri J L M Timmers,Mercedes Robledo,Stephanie M J Fliedner,Katharina Wang,Julian Maurer,Astrid Reul,Nicole Bechmann,Constanze Hantel,Hermine Mohr,Natalia S Pellegata,Stefan R Bornstein,Matthias Kroiss,Christoph J Auernhammer,Martin Reincke,Karel Pacak,Ashley B Grossman,Felix Beuschlein,Svenja Nölting
OBJECTIVE The therapeutic options for metastatic pheochromocytomas/paragangliomas (mPPGLs) include chemotherapy with cyclophosphamide/vincristine/dacarbazine (CVD), temozolomide monotherapy, radionuclide therapies, and tyrosine kinase inhibitors such as sunitinib. The objective of this multicenter retrospective study was to evaluate and compare the responses of mPPGLs including those with pathogenic
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Food for thought: protein supplementation for the treatment of the syndrome of inappropriate antidiuresis. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Anissa Pelouto,Adrienne A M Zandbergen,Ewout J Hoorn
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Therapeutic management of congenital forms of endocrine hypertension. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Suranut Charoensri,Richard J Auchus
Congenital forms of endocrine hypertension are rare and potentially life-threatening disorders, primarily caused by genetic defects affecting adrenal steroid synthesis and activation pathways. These conditions exhibit diverse clinical manifestations, which can be distinguished by their unique molecular mechanisms and steroid profiles. Timely diagnosis and customized management approach are crucial
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Prevalence, risk factors, and optimal way to determine overweight, obesity, and morbid obesity in the first Dutch cohort of 2338 long-term survivors of childhood cancer: a DCCSS-LATER study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Vincent G Pluimakers,Jenneke E van Atteveld,Demi T C de Winter,Melissa Bolier,Marta Fiocco,Rutger Jan A J Nievelstein,Geert O R Janssens,Dorine Bresters,Margriet van der Heiden-van der Loo,Andrica C H de Vries,Marloes Louwerens,Heleen J van der Pal,Saskia M F Pluijm,Cecile M Ronckers,Andrica B Versluijs,Leontien C M Kremer,Jacqueline J Loonen,Eline van Dulmen-den Broeder,Wim J E Tissing,Hanneke M van
BACKGROUND Overweight and obesity are common challenges among childhood cancer survivors. Overweight may be disguised, as survivors can have normal weight but high fat percentage (fat%) on dual-energy X-ray absorptiometry (DXA). We aimed to assess prevalence, identify determinants and biomarkers, and assess which method captures overweight best, in a nationwide cohort. METHODS The prevalence of overweight
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Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Siqi Jiang,Yi Yang,An Song,Yue Jiang,Yan Jiang,Mei Li,Weibo Xia,Min Nie,Ou Wang,Xiaoping Xing
BACKGROUND Pseudohypoparathyroidism type 1a (PHP1a) is a rare endocrine disease caused by partial defects of the α subunit of the stimulatory Guanosin triphosphate (GTP) binding protein (Gsα) resulting from maternal GNAS gene variation. The clinical manifestations are related to PTH resistance (hypocalcemia, hyperphosphatemia, and elevated serum intact PTH) in the presence or absence of multihormone
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Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-11-08 Barbara Siri,Annamaria D'Alessandro,Arianna Maiorana,Ottavia Porzio,Lucilla Ravà,Carlo Dionisi-Vici,Marco Cappa,Diego Martinelli
OBJECTIVE Single Large Scale Mitochondrial DNA Deletions (SLSMDs), Pearson Syndrome (PS) and Kearns-Sayre Syndrome (KSS), are systemic diseases with multiple endocrine abnormalities. The adrenocortical function has not been systematically investigated with a few anecdotal reports of overt adrenal insufficiency (AI). The study aimed to assess the adrenocortical function in a large cohort of SLSMDs.
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Correction to: Long-term effects of primary hyperparathyroidism and parathyroidectomy on kidney function. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-10-17
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A novel pathogenic variant in MRAP2 in an obese patient with successful outcome of bariatric surgery. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-10-17 Blandine Gatta-Cherifi,Alexandre Laboye,Caroline Gronnier,Maud Monsaingeon-Henry,Sarah Meulebrouck,Morgane Baron,Françoise Bertin,Emilie Pupier,Sophie Cambos,Christine Poitou,Johanne Le Beyec-Le Bihan,Amélie Bonnefond
Mutations in genes encoding proteins located in the leptin/melanocortin pathway have been identified in the rare cases of genetic obesities. Heterozygous variants of MRAP2, encoding a G coupled-protein receptor accessory protein implicated in energy control notably via the melanocortin-4 receptor, have been recently identified. A 24-year-old patient with early-onset severe obesity (body mass index
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Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-10-17 Mariska A M Schröder,Mihaela Neacşu,Bas P H Adriaansen,Fred C G J Sweep,S Faisal Ahmed,Salma R Ali,Tânia A S S Bachega,Federico Baronio,Niels Holtum Birkebæk,Christiaan de Bruin,Walter Bonfig,Jillian Bryce,Maria Clemente,Martine Cools,Heba Elsedfy,Evgenia Globa,Tulay Guran,Ayla Güven,Nermine Hussein Amr,Dominika Janus,Nina Lenherr Taube,Renata Markosyan,Mirela Miranda,Şükran Poyrazoğlu,Aled Rees,Mariacarolina
IMPORTANCE Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development. OBJECTIVE This study aimed to examine the association between commencing adequate glucocorticoid
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Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-10-17 Emese Boros,Diana-Alexandra Ertl,Jugurtha Berkenou,Christelle Audrain,Anne Lise Lecoq,Peter Kamenicky,Karine Briot,Cyril Amouroux,Volha Zhukouskaya,Iva Gueorguieva,Brigitte Mignot,Barbara Girerd,Valerie Porquet Bordes,Jean Pierre Salles,Thomas Edouard,Régis Coutant,Justine Bacchetta,Agnès Linglart,Anya Rothenbuhler
OBJECTIVES The aim of this study is to analyze height after cessation of growth (final height [FH]) and its evolution over the last decades in X-linked hypophosphatemia (XLH) patients in France, as the data on natural history of FH in XLH are lacking. DESIGN We performed a retrospective observational study in a large cohort of French XLH patients with available data on FH measurements. MATERIALS AND
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Altered biomarkers for cardiovascular disease and inflammation in autoimmune Addison's disease - a cross-sectional study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-10-17 Åse Bjorvatn Sævik,Grethe Ueland,Anna-Karin Åkerman,Paal Methlie,Marcus Quinkler,Anders Palmstrøm Jørgensen,Charlotte Höybye,Aleksandra W J Debowska,Bjørn Gunnar Nedrebø,Anne Lise Dahle,Siri Carlsen,Aneta Tomkowicz,Stina Therese Sollid,Ingrid Nermoen,Kaja Grønning,Per Dahlqvist,Guri Grimnes,Jakob Skov,Trine Finnes,Susanna F Valland,Jeanette Wahlberg,Synnøve Emblem Holte,Olle Kämpe,Sophie Bensing,Eystein
OBJECTIVE Increased prevalence of cardiovascular disease has been reported in autoimmune Addison's disease (AAD), but pathomechanisms are poorly understood. DESIGN Cross-sectional study. METHODS We compared serum levels of 177 cardiovascular and inflammatory biomarkers in 43 patients with AAD at >18-h glucocorticoid withdrawal and 43 matched controls, overall and stratified for sex. Biomarker levels
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Comorbidities in mild autonomous cortisol secretion and the effect of treatment: systematic review and meta-analysis. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-10-17 Iris C M Pelsma,Martin Fassnacht,Stylianos Tsagarakis,Massimo Terzolo,Antoine Tabarin,Anju Sahdev,John Newell-Price,Ljiljana Marina,Kerstin Lorenz,Irina Bancos,Wiebke Arlt,Olaf M Dekkers
OBJECTIVE To assess (1) comorbidities associated with and (2) treatment strategies for patients with adrenal incidentalomas and mild autonomous cortisol secretion (MACS; > 1.8 µg/dL (>50 nmol/L) cortisol level cut-off following the 1 mg dexamethasone suppression test). DESIGN Systematic review and meta-analysis. METHODS Seven databases were searched up to July 14, 2022. Eligible studies were (randomized)
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Risk of dementia and psychiatric or sleep disorders after diagnosis of adrenal adenomas: a population-based cohort study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-10-17 Dingfeng Li,Sumitabh Singh,Catherine D Zhang,Ravinder Jeet Kaur,Andreas Ebbehoj,Elizabeth J Atkinson,Sara J Achenbach,Nikki H Stricker,Michelle M Mielke,Walter Rocca,Irina Bancos
OBJECTIVE Adrenal adenomas are commonly encountered in clinical practice. To date, population-based data on their impact on cognition, mental health, and sleep are lacking. We aimed to study possible associations between adrenal adenomas and dementia, psychiatric or sleep disorders. DESIGN Population-based cohort study, Olmsted County, MN, 1995-2017. METHODS Patients with adrenal adenoma and absent
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Paediatric and adolescent ectopic Cushing's syndrome: systematic review. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-10-17 Chethan Yami Channaiah,Manjiri Karlekar,Vijaya Sarathi,Anurag Ranjan Lila,Shruthi Ravindra,Padma Vikram Badhe,Gaurav Malhotra,Saba Samad Memon,Virendra Ashokrao Patil,C S Pramesh,Tushar Bandgar
OBJECTIVE The data on clinical, biochemical, radiological characteristics, and outcomes in paediatric ectopic adrenocorticotropic hormone syndrome (EAS) are limited owing to rarity of the condition. We report three new cases and perform a systematic review of paediatric EAS. DESIGN AND METHOD Case records of paediatric and adolescent EAS patient's ≤20 years presenting at our centre between 1997 and
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In vitro regulation of fibroblast growth factor 23 by 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D synthesized by osteocyte-like MC3T3-E1 cells. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-10-17 Danielle M A Ratsma,Max Muller,Marijke Koedam,M Carola Zillikens,Bram C J van der Eerden
Fibroblast growth factor 23 (FGF23) is produced and secreted by osteocytes and is essential for maintaining phosphate homeostasis. One of the main regulators of FGF23, 1,25-dihydroxyvitamin D (1,25(OH)2D3), is primarily synthesized in the kidney from 25-hydroxyvitamin D (25(OH)D) by 1α-hydroxylase (encoded by CYP27B1). Hitherto, it is unclear whether osteocytes can convert 25(OH)D and thereby allow
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A preoperative computed tomography radiomics model to predict disease-free survival in patients with pancreatic neuroendocrine tumors. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-10-17 Margaux Homps,Philippe Soyer,Romain Coriat,Solène Dermine,Anna Pellat,David Fuks,Ugo Marchese,Benoit Terris,Lionel Groussin,Anthony Dohan,Maxime Barat
IMPORTANCE Imaging has demonstrated capabilities in the diagnosis of pancreatic neuroendocrine tumors (pNETs), but its utility for prognostic prediction has not been elucidated yet. OBJECTIVE The aim of this study was to build a radiomics model using preoperative computed tomography (CT) data that may help predict recurrence-free survival (RFS) or OS in patients with pNET. DESIGN We performed a retrospective
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Loss of function of FIGNL1, a DNA damage response gene, causes human ovarian dysgenesis. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Natan Florsheim,Larisa Naugolni,Fouad Zahdeh,Orit Lobel,Batel Terespolsky,Rachel Michaelson-Cohen,Merav Y Gold,Michal Goldberg,Paul Renbaum,Ephrat Levy-Lahad,David Zangen
Ovarian dysgenesis (OD), an XX disorder of sex development, presents with primary amenorrhea, hypergonadotrophic hypogonadism, and infertility. In an Ashkenazi Jewish patient with OD, whole exome sequencing identified compound heterozygous frameshifts in FIGNL1, a DNA damage response (DDR) gene: c.189del and c.1519_1523del. Chromosomal breakage was significantly increased in patient cells, both spontaneously
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Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Naiara C B Dantas,Mariana F A Funari,Antonio M Lerário,Nathalia L M Andrade,Raíssa C Rezende,Laurana P Cellin,Crésio Alves,Lindiane G Crisostomo,Ivo J P Arnhold,Berenice Mendonca,Renata C Scalco,Alexander A L Jorge
OBJECTIVE Our study aimed to assess the impact of genetic modifiers on the significant variation in phenotype that is observed in individuals with SHOX deficiency, which is the most prevalent monogenic cause of short stature. DESIGN AND METHODS We performed a genetic analysis in 98 individuals from 48 families with SHOX deficiency with a target panel designed to capture the entire SHOX genomic region
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Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Julia Simon,Luis Gustavo Perez-Rivas,Yining Zhao,Fanny Chasseloup,Helene Lasolle,Christine Cortet,Francoise Descotes,Chiara Villa,Bertrand Baussart,Pia Burman,Dominique Maiter,Vivian von Selzam,Roman Rotermund,Jörg Flitsch,Jun Thorsteinsdottir,Emmanuel Jouanneau,Michael Buchfelder,Philippe Chanson,Gerald Raverot,Marily Theodoropoulou
OBJECTIVE A somatic mutational hotspot in the SF3B1 gene was reported in lactotroph tumours. The aim of our study was to examine the prevalence of driver SF3B1 variants in a multicentre independent cohort of patients with lactotroph tumours and correlate with clinical data. DESIGN AND METHODS This was a retrospective, multicentre study involving 282 patients with lactotroph tumours (including 6 metastatic
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Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Axelle Vuylsteke,Laurens Hannes,Hilde Brems,Koen Devis,Marleen Renard,Anne Uyttebroeck,Eric Legius,Brigitte Decallonne
OBJECTIVE The c.1998delinsTTCT variant in the RET gene (codon 666) is linked to medullary thyroid carcinoma in Belgium. We aimed to study the clinical phenotype and the age-dependent penetrance in predictive variant carriers. DESIGN Retrospective study of index patients and predictive variant carriers, identified through familial cascade testing between 2001 and 2020. RESULTS The total cohort comprised
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Early puberty suppression and gender-affirming hormones do not alter final height in transgender adolescents. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Silvia Ciancia,Daniel Klink,Margarita Craen,Martine Cools
BACKGROUND Early puberty suppression (ePS; Tanner stages 2 and 3) through gonadotropin-releasing hormone agonists (GnRHas) and gender-affirming hormones (GAHs) interferes with growth and may impact final height (FH). AIM To investigate the impact of ePS and GAH on FH in trans boys and trans girls. METHODS Retrospective study, including 10 trans boys and 22 trans girls at FH. Bone age (BA) was determined
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Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Luciana Montenegro,Carlos Seraphim,Flávia Tinano,Maiara Piovesan,Ana P M Canton,Ken McElreavey,Severine Brabant,Natalia P Boris,Melissa Magnuson,Rona S Carroll,Ursula B Kaiser,Jesús Argente,Vicente Barrios,Vinicius N Brito,Raja Brauner,Ana Claudia Latronico
BACKGROUND Several rare loss-of-function mutations of delta-like noncanonical notch ligand 1 (DLK1) have been described in non-syndromic children with familial central precocious puberty (CPP). OBJECTIVE We investigated genetic abnormalities of DLK1 gene in a French cohort of children with idiopathic CPP. Additionally, we explored the pattern of DLK1 serum levels in patients with CPP and in healthy
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Early mortality critically impedes improvements in thyroid cancer survival through a half century. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Filip Tichanek,Asta Försti,Vaclv Liska,Otto Hemminki,Anni Koskinen,Akseli Hemminki,Kari Hemminki
OBJECTIVES We analyze survival in thyroid cancer from Denmark (DK), Finland (FI), Norway (NO), and Sweden (SE) over a 50-year period (1971-2020), and additionally consider concomitant changes in incidence and mortality. DESIGN Population-based survival study. METHODS Relative 1-, 5/1 (conditional)-, and 5-year survival data were obtained from the NORDCAN database for years 1971-2020. Incidence and
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Gender-affirming treatment and mental health diagnoses in Danish transgender persons: a nationwide register-based cohort study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Dorte Glintborg,Jens-Jakob Kjer Møller,Katrine Hass Rubin,Øjvind Lidegaard,Guy T'Sjoen,Mie-Louise Julie Ørsted Larsen,Malene Hilden,Marianne Skovsager Andersen
IMPORTANCE Gender affirming treatment aims to improve mental health. OBJECTIVE To investigate longitudinal mental health outcomes in Danish transgender persons. DESIGN National register-based cohort study in Danish transgender persons with diagnosis code of "gender identity disorder" during the period 2000-2021. PARTICIPANTS Five age-matched controls of the same sex at birth and five age-matched controls
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Anorexia nervosa and adrenal hormones: a systematic review and meta-analysis. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Subhanudh Thavaraputta,Patompong Ungprasert,Selma F Witchel,Pouneh K Fazeli
OBJECTIVE Anorexia nervosa is a primary psychiatric disorder characterized by self-induced negative energy balance. A number of hormonal responses and adaptations occur in response to starvation and low body weight including changes in adrenocortical hormones. Our objective was to systematically review adrenocortical hormone levels in anorexia nervosa. DESIGN/METHODS We searched MEDLINE and EMBASE
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Defining benchmark outcomes for transsphenoidal surgery of pituitary adenomas: a multicenter analysis. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Richard Drexler,Roman Rotermund,Timothy R Smith,John L Kilgallon,Jürgen Honegger,Isabella Nasi-Kordhishti,Paul A Gardner,Zachary C Gersey,Hussein M Abdallah,John A Jane,Alexandria C Marino,Ulrich J Knappe,Nesrin Uksul,Jamil A Rzaev,Evgeniy V Galushko,Ekaterina V Gormolysova,Anatoliy V Bervitskiy,Henry W S Schroeder,Márton Eördögh,Marco Losa,Pietro Mortini,Rüdiger Gerlach,Mohammed Azab,Karol P Budohoski
IMPORTANCE Benchmarks aid in improve outcomes for surgical procedures. However, best achievable results that have been validated internationally for transsphenoidal surgery (TS) are not available. OBJECTIVE We aimed to establish standardized outcome benchmarks for TS of pituitary adenomas. DESIGN A total of 2685 transsphenoidal tumor resections from 9 expert centers in 3 continents were analyzed. SETTING
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Risk of depression in patients with acromegaly in Korea (2006-2016): a nationwide population-based study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Shinje Moon,Sangmo Hong,Kyungdo Han,Cheol-Young Park
BACKGROUND An increased prevalence of depression has been reported in patients with acromegaly. However, most studies included a relatively small sample size owing to the rarity of acromegaly. We aimed to investigate the risk of depression in patients with acromegaly using the Korean National Health Information Database (NHID). METHODS The data of patients with acromegaly in 2006-2016 were collected
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Identification of myokines susceptible to improve glucose homeostasis after bariatric surgery. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Laura Orioli,Mickaël Canouil,Kiswendsida Sawadogo,Lijiao Ning,Louise Deldicque,Pascale Lause,Marie de Barsy,Philippe Froguel,Audrey Loumaye,Yannick Deswysen,Benoit Navez,Amélie Bonnefond,Jean-Paul Thissen
IMPORTANCE AND OBJECTIVE The identification of myokines susceptible to improve glucose homeostasis following bariatric surgery could lead to new therapeutic approaches for type 2 diabetes. METHODS Changes in the homeostasis model assessment (HOMA) test were assessed in patients before and 3 months after bariatric surgery. Changes in myokines expression and circulating levels were assessed using real-time
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ACTH and prolactin synergistically and selectively regulate CYP17 expression and adrenal androgen production in human foetal adrenal organ cultures. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Grégoire Schneider,Carmen Ruggiero,Lucie Renault,Mabrouka Doghman-Bouguerra,Nelly Durand,Guillaume Hingrai,Frédérique Dijoud,Ingrid Plotton,Enzo Lalli
OBJECTIVE The essential role of ACTH on the growth and function of the human foetal adrenal (HFA) has long been recognized. In addition, many studies have suggested a role of the pituitary hormone prolactin (PRL) in the regulation of the HFA, but the effects of this hormone on steroidogenesis and gene expression are still unknown. Our objective was to investigate the effect of ACTH and PRL on the steroidogenic
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Bone changes post-sleeve gastrectomy in relation to body mass and hormonal changes. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Snimarjot Kaur,Supritha Nimmala,Vibha Singhal,Deborah M Mitchell,Clarissa C Pedreira,Meghan Lauze,Hang Lee,Fatima Cody Stanford,Mary L Bouxsein,Miriam A Bredella,Madhusmita Misra
OBJECTIVE To determine mechanisms contributing to impaired bone health in youth 24 months following sleeve gastrectomy (SG). DESIGN Twenty-four-month longitudinal observational study. METHODS Participants included 23 youth undergoing SG and 30 non-surgical controls (NS) 13-25 years old with moderate-to-severe obesity. Subjects underwent fasting labs for bone turnover markers (N-terminal propeptide
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A novel approach to hypophysitis: outcomes using non-glucocorticoid immunosuppressive therapy. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Janaki D Vakharia,Maged Muhammed,Ilan Remba-Shapiro,Marcela Marsiglia,Natalia Hadaway,Bart K Chwalisz,Lisa B Nachtigall
OBJECTIVE To determine pituitary function before and after nonglucocorticoid immunosuppressive therapy (NGIT) in subjects with hypophysitis and evaluate their clinical and radiologic outcomes. DESIGN Retrospective, longitudinal study. METHODS We reviewed a large database, selected subjects with hypophysitis treated with NGIT, and collected information on the duration of therapy, and clinical, hormonal
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High prevalence of frailty in patients with adrenal adenomas and adrenocortical hormone excess: a cross-sectional multi-centre study with prospective enrolment. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Prerna Dogra,Lana Šambula,Jasmine Saini,Karthik Thangamuthu,Shobana Athimulam,Danae A Delivanis,Dimitra A Baikousi,Rohit Nathani,Catherine D Zhang,Natalia Genere,Zara Salman,Adina F Turcu,Urszula Ambroziak,Raul G Garcia,Sara J Achenbach,Elizabeth J Atkinson,Sumitabh Singh,Nathan K LeBrasseur,Darko Kastelan,Irina Bancos
OBJECTIVE Frailty, characterized by multi-system decline, increases vulnerability to adverse health outcomes and can be measured using Frailty Index (FI). We aimed to assess the prevalence of frailty in patients with adrenal disorders (based on hormonal sub-type) and examine association between FI and performance-based measures of physical function. DESIGN Multi-centre, cross-sectional study (March
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Leflutrozole in male obesity-associated hypogonadotropic hypogonadism: Ph 2b double-blind randomised controlled trial. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 T Hugh Jones,Adrian S Dobs,Harpal Randeva,William Moore,Jacqueline M Parkin
OBJECTIVE Assessment of the efficacy and safety/tolerability of the aromatase inhibitor leflutrozole to normalise testosterone in Obesity-associated Hypogonadotropic Hypogonadism (OHH). DESIGN Placebo-controlled, double-blind, RCT, in 70 sites in Europe/USA. METHODS Patient inclusion criteria: men with BMI of 30-50 kg/m2, morning total testosterone (TT) < 10.41 nmol/L, and two androgen deficiency symptoms
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Obesity and "functional hypogonadism"-mechanisms and management: commentary on EJE-22-1110 "leflutrozole in male obesity-associated hypogonadotropic hypogonadism: Ph 2b double-blind RCT". Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-09-01 Warrick J Inder,Mathis Grossmann
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Thyroglobulin and thyroglobulin antibody: an updated clinical and laboratory expert consensus. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Luca Giovanella,Federica D'Aurizio,Alicia Algeciras-Schimnich,Rainer Görges,Petra Petranovic Ovcaricek,R Michael Tuttle,W Edward Visser,Frederik A Verburg,
OBJECTIVE Thyroglobulin measurement is the cornerstone of modern management of differentiated thyroid cancer, with clinical decisions on treatment and follow-up based on the results of such measurements. However, numerous factors need to be considered regarding measurement with and interpretation of thyroglobulin assay results. DESIGN The present document provides an integrated update to the 2013 and
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Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Valentina Morelli,Francesca Marta Elli,Sofia Frigerio,Walter Vena,Serena Palmieri,Camilla Lucca,Maria Antonia Maffini,Andrea Contarino,Francesca Bagnaresi,Giovanna Mantovani,Maura Arosio
OBJECTIVE We aimed to evaluate the prevalence of armadillo repeat-containing 5 (ARMC5) genetic defects in our cohort of bilateral adrenal incidentaloma (BAI) patients and to evaluate the possible existence of genotype-phenotype correlations. DESIGN Cross-sectional study. SETTING Tertiary care center. PARTICIPANTS 72 BAI patients. MAIN OUTCOME MEASURE(S) The following data have been collected: morning
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Body image concerns in women with polycystic ovary syndrome: a systematic review and meta-analysis. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Meri Davitadze,Kashish Malhotra,Halimah Khalil,Meghnaa Hebbar,Chau Thien Tay,Aya Mousa,,Helena Teede,Leah Brennan,Elisabet Stener-Victorin,Punith Kempegowda
OBJECTIVE To assess differences in body image concerns among women with and without polycystic ovary syndrome (PCOS). DESIGN This is a systematic review and meta-analysis. METHODS Electronic databases (MEDLINE, EMBASE, APA PsychInfo, PUBMED, Web-of-Science Core Collection, and Cochrane Controlled Register of Trials [CENTRAL]) were searched from inception through July 2022. Outcome measures included
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Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Nazli Eskici,Shrinidhi Madhusudan,Kirsi Vaaralahti,Venkatram Yellapragada,Celia Gomez-Sanchez,Juho Kärkinen,Henrikki Almusa,Nina Brandstack,Päivi J Miettinen,Yafei Wang,Taneli Raivio
OBJECTIVE Congenital hypogonadotropic hypogonadism (CHH) is a rare, genetically heterogeneous reproductive disorder caused by gonadotropin-releasing hormone (GnRH) deficiency. Approximately half of CHH patients also have decreased or absent sense of smell, that is, Kallmann syndrome (KS). We describe a patient with White-Sutton syndrome (developmental delay and autism spectrum disorder) and KS due
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Performance of DNA-based biomarkers for classification of adrenocortical carcinoma: a prognostic study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Juliane Lippert,Ulrich Dischinger,Silke Appenzeller,Alessandro Prete,Stefan Kircher,Kassiani Skordilis,Yasir S Elhassan,Barbara Altieri,Martin Fassnacht,Cristina L Ronchi
OBJECTIVE Adrenocortical carcinoma (ACC) is a rare aggressive malignancy with heterogeneous clinical outcomes. Recent studies proposed a combination of clinical/histopathological parameters (S-GRAS score) or molecular biomarkers (BMs) to improve prognostication. We performed a comparative analysis of DNA-based BMs by evaluating their added prognostic value to the S-GRAS score. DESIGN AND METHODS A
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The dose-dependent effect of estrogen on bone mineral density in trans girls. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Lidewij Sophia Boogers,Maria Anna Theodora Catharina van der Loos,Chantal Maria Wiepjes,Adrianus Sarinus Paulus van Trotsenburg,Martin den Heijer,Sabine Elisabeth Hannema
OBJECTIVE Treatment in transgender girls can consist of puberty suppression (PS) with a gonadotropin-releasing hormone agonist (GnRHa) followed by gender-affirming hormonal treatment (GAHT) with estrogen. Bone mineral density (BMD) Z-scores decrease during PS and remain relatively low during GAHT, possibly due to insufficient estradiol dosage. Some adolescents receive high-dose estradiol or ethinyl
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Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Christian Lundtoft,Daniel Eriksson,Matteo Bianchi,Maribel Aranda-Guillén,Nils Landegren,Solbritt Rantapää-Dahlqvist,Peter Söderkvist,Jennifer R S Meadows,,,,Sophie Bensing,Gerli Rosengren Pielberg,Kerstin Lindblad-Toh,Lars Rönnblom,Olle Kämpe
OBJECTIVE Autoantibodies against the adrenal enzyme 21-hydroxylase is a hallmark manifestation in autoimmune Addison's disease (AAD). Steroid 21-hydroxylase is encoded by CYP21A2, which is located in the human leucocyte antigen (HLA) region together with the highly similar pseudogene CYP21A1P. A high level of copy number variation is seen for the 2 genes, and therefore, we asked whether genetic variation
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Pituitary function before and after surgery for nonfunctioning pituitary adenomas-data from the Swedish Pituitary Register. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Nasrin Al-Shamkhi,Katarina Berinder,Henrik Borg,Pia Burman,Per Dahlqvist,Charlotte Höybye,Daniel S Olsson,Oskar Ragnarsson,Bertil Ekman,Britt Edén Engström
OBJECTIVE Data on pre- and postoperative pituitary function in nonfunctioning pituitary adenomas (NFPA) are not consistent. We aimed to investigate pituitary function before and up to 5 years after transsphenoidal surgery with emphasis on the hypothalamic-pituitary-adrenal axis (HPA). DESIGN AND METHODS Data from the Swedish Pituitary Register was used to analyze anterior pituitary function in 838
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Increase in intracellular and extracellular myocardial mass in patients with acromegaly: a cardiac magnetic resonance imaging study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Peter Wolf,Khaoula Bouazizi,Nadjia Kachenoura,Céline Piedvache,Antonio Gallo,Sylvie Salenave,Luigi Maione,Jacques Young,Mikaël Prigent,Anne-Lise Lecoq,Emmanuelle Kuhn,Helene Agostini,Severine Trabado,Alban Redheuil,Philippe Chanson,Peter Kamenický
BACKGROUND Acromegaly is associated with an increased left ventricular (LV) mass, as reported in echo-based and, more recently, in a few cardiac magnetic resonance imaging (MRI) studies. One possible explanation for this increased LV mass could be water retention and subsequent myocardial edema. METHODS In this prospective cross-sectional study, 26 patients with active acromegaly before and after treatment
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Sex differences in mortality in patients with acromegaly: a nationwide cohort study in Korea. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Jiwon Kim,Namki Hong,Jimi Choi,Ju Hyung Moon,Eui Hyun Kim,Jae Won Hong,Eun Jig Lee,Sin Gon Kim,Cheol Ryong Ku
OBJECTIVE The results of previous studies on sex differences in mortality and comorbidities among patients with acromegaly are diverse. We assessed sex differences in mortality and the risk of complications in patients with acromegaly. METHODS We included 1884 patients with acromegaly with 1:50 age- and sex-matched 94 200 controls using the Korean nationwide claims database from 2009 to 2019. RESULTS
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Fetal growth restriction inhibits childhood growth despite catch-up in discordant identical twins: an observational cohort study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Sophie G Groene,Irma J Gremmen,Erik W van Zwet,Arno A W Roest,Monique C Haak,Jeanine M M van Klink,Enrico Lopriore,Bastiaan T Heijmans,Christiaan de Bruin
OBJECTIVE Research suggests that postnatal catch-up growth after fetal growth restriction (FGR) occurs frequently. Yet, postnatal growth in singletons may be influenced by multiple factors. Identical twins with discordant prenatal growth, termed selective FGR (sFGR), can be regarded as a natural experiment eliminating these sources of bias. DESIGN Observational cohort study. METHODS Monochorionic twins
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Endocrine morbidity in neurofibromatosis 1: a nationwide, register-based cohort study. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Line Kenborg,Andreas Ebbehoj,Cecilie Ejerskov,Mette Møller Handrup,John R Østergaard,Hanne Hove,Karoline Doser,Anja Krøyer,John J Mulvihill,Jeanette F Winther,Kirstine Stochholm
OBJECTIVE Previous studies have found that neurofibromatosis 1 (NF1) is associated with an increased risk for endocrine disorders, but no comprehensive overview of the risk for specific endocrine disorders has been published. We assessed endocrine morbidity in individuals with NF1 from information on hospital admissions, surgery for endocrine disorders, and relevant medication. DESIGN A nationwide
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OPERA: perception of information in patients with gastroenteropancreatic neuroendocrine tumors on lanreotide autogel. Eur. J. Endocrinol. (IF 5.8) Pub Date : 2023-08-02 Vincent Hautefeuille,Thomas Walter,Christine Do Cao,Romain Coriat,Sophie Dominguez,Laurent Mineur,Guillaume Cadiot,Eric Terrebonne,Iradj Sobhani,Delphine Gueguen,Aude Houchard,Charbel Mouawad,Amélie Anota,Pascal Hammel
IMPORTANCE Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) can affect patient health-related quality of life (HRQoL). Appropriate information may improve their adherence to treatment and quality of life. OBJECTIVE To evaluate the change in patient's perceptions of the level of information at lanreotide (LAN) treatment initiation for GEP-NETs vs after 6 months. DESIGN OPERA (NCT03562091) was