European Journal of Endocrinology最新文献

{"title":"The relationship between hypoprolactinemia and cardiometabolic health in women.","authors":"Thang S Han, Anke Hannemann, Riikka Arffman, Nele Friedrich, Till Ittermann, Robin Wilkening, Terhi Piltonen, Christopher Henry Fry, Ana B Crujeiras, Felipe F Casanueva","doi":"10.1093/ejendo/lvaf101","DOIUrl":"10.1093/ejendo/lvaf101","url":null,"abstract":"<p><strong>Background: </strong>An evidence-based definition for the lower reference limit of serum prolactin (PRL) is lacking. We recently examined the European Male Ageing Study (EMAS) data and derive a threshold set at 3.0 ng/mL for hypoprolactinemia in men. Here, we identified the lower reference limit for PRL in women.</p><p><strong>Methods: </strong>We used data from the Study of Health of Pomerania (SHIP-START, Germany, discovery cohort), and the Women's Health Study (WENDY, Finland, validation cohort). The two-sigma empirical rule was applied to obtain a threshold at 2.5% of the log10 PRL distribution. Logistic and Cox regressions were used to examine the association between PRL and cardiometabolic outcomes at baseline and follow-up, respectively.</p><p><strong>Results: </strong>There were 2048 women aged 20-81 year from SHIP-START and 1730 women aged 33-37 year from WENDY. The low serum PRL threshold was derived at 2.60 ng/mL for premenopausal women and 2.29 ng/mL in women of all ages from SHIP-START, and 4.84 ng/mL in WENDY. These thresholds were not far off from that previously identified in men (3 ng/mL). In SHIP-START, we further found that compared to PRL levels of 5.0-34.9 ng/mL, lower PRL level were more commonly associated with type-2 diabetes and metabolic syndrome at baseline. Moreover, after a median of 12 year of follow-up (IQR = 6.9-15.8 year), the risk of developing myocardial infarction was greater in women with PRL < 2.30 ng/mL (SHIP-START criteria): adjusted hazard ratio = 4.19 (95% CI: 1.74-10.12), and in women with PRL < 3 ng/mL (EMAS criteria): hazard ratio = 2.74 (95% CI: 1.44-5.21).</p><p><strong>Conclusions: </strong>Our data suggests that a serum PRL level lower than 3 ng/mL could be adopted for identifying PRL-associated cardiometabolic disease in both sexes.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"662-670"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Altered brain function and structure in youth-onset type 2 diabetes.","authors":"Allison L B Shapiro, Phoom Narongkiatikhun, Ye Ji Choi, Greta Wilkening, Kalie L Tommerdahl, Hailey E Hamson, Laura Pyle, Petter Bjornstad","doi":"10.1093/ejendo/lvaf098","DOIUrl":"10.1093/ejendo/lvaf098","url":null,"abstract":"<p><strong>Objective: </strong>Despite the aggressive clinical trajectory of youth-onset type 2 diabetes (Y-T2D) and consistent evidence of cognitive dysfunction and poor brain health in adults with T2D, the impact of Y-T2D on brain function and structure is understudied.</p><p><strong>Design: </strong>This study aimed to characterize brain function and structure in a cross-sectional sample of young people with Y-T2D and compare these brain attributes to peers with obesity alone (OB) or healthy weight (HW) without T2D.</p><p><strong>Methods: </strong>Brain structure and function were measured via magnetic resonance imaging. Functional connectivity was estimated with a seed-to-voxel analysis and gray matter (GM) volume differences explored between groups.</p><p><strong>Results: </strong>Forty young adult participants were included (Y-T2D: n = 12, mean [±SD] age 25.0 ± 7.2 years, diabetes duration 6.5 ± 6.7 years; OB: n = 8, age 19 ± 1.6 years; HW: n = 20, age 22.9 ± 4.1 years). The Y-T2D group showed stronger functional connectivity between the salience network and default mode network, compared to both the OB and HW groups (P < .05 for all, respectively). The Y-T2D group had reduced GM volume in regions associated with executive functioning, language, and visual processing relative to the OB and HW groups (P < .001 for all, respectively).</p><p><strong>Conclusions: </strong>Y-T2D is associated with distinct alterations in brain function and structure, providing evidence of potentially compromised brain health in this clinical population.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"671-679"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12100494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143992786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary adrenal insufficiency in patients with CPOX gene mutations.","authors":"Elif Kelestemur, Murat Hakki Yarar, Busra Gurpinar Tosun, Meryem Karaca, Ayse Mine Yilmaz Goler, Betul Karademir Yilmaz, Ozge Yapici, Gulden Gokcay, Tulay Guran","doi":"10.1093/ejendo/lvaf089","DOIUrl":"10.1093/ejendo/lvaf089","url":null,"abstract":"<p><strong>Background: </strong>Harderoporphyria arises from biallelic CPOX gene mutations, leading to coproporphyrinogen oxidase deficiency in the inner mitochondrial membrane. The impact of CPOX gene mutations on adrenal function remains poorly understood.</p><p><strong>Objective: </strong>Characterizing primary adrenal insufficiency (PAI) in 2 siblings with harderoporphyria.</p><p><strong>Methods: </strong>Clinical data were recorded, and genetic analysis was performed by whole genome sequencing (WGS). Plasma steroids and urinary porphyrins were measured by liquid chromatography-mass spectrometry and high-performance liquid chromatography, respectively. Mitochondrial function was assessed using the mitochondrial membrane potential (MMP) assay in peripheral blood mononuclear cells.</p><p><strong>Results: </strong>Patients were diagnosed with PAI at 4.5 years (P1, 46,XY) and 7 months (P2, 46,XX). P1 had atypical genitalia and developed primary gonadal insufficiency and non-immune diabetes at ages 6 and 10, respectively. Both patients had a history of microcytic anaemia, haemolysis, cholestasis, hepatosplenomegaly in early infancy, hyperpigmentation, abdominal pain, nystagmus, optic atrophy, and mild lactic acidosis in early childhood. WGS revealed a homozygous c.83_85del, p.S28* variant in CPOX. Oxidative damage to mitochondria was shown by decreased MMP in patients compared with controls (P < .0001). Hormonal assessment indicated severe PAI, suggestive of combined CYP11A1 and CYP11B1 deficiency.</p><p><strong>Conclusions: </strong>CPOX gene mutations cause a mixed model of PAI, affecting mitochondrial steroidogenic enzymes. Clinical manifestations of harderoporphyria may overlap with PAI signs.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 5","pages":"K31-K37"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The influence of gender-affirming hormone therapy on serum concentrations of hormone-binding proteins.","authors":"Theresa A Stangl, Chantal M Wiepjes, Annemieke C Heijboer, Martin den Heijer","doi":"10.1093/ejendo/lvaf038","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf038","url":null,"abstract":"<p><strong>Background: </strong>Corticosteroid-binding globulin (CBG), thyroid-binding globulin (TBG), sex hormone-binding globulin (SHBG), and insulin-like growth factor-binding protein 3 (IGF-BP3) regulate the bioavailability and transport of hormones, affecting hormone concentration measurements and therapy plans. This study investigates to what extent gender-affirming hormone therapy (GAHT) impacts serum concentrations of these binding proteins.</p><p><strong>Methods: </strong>This prospective study included 41 transfeminine persons starting oral or transdermal 17β-estradiol in combination with cyproterone acetate (CPA) or gonadotropin-releasing hormone analogs (GnRHa) and 38 transmasculine persons starting testosterone gel or injections. Serum concentrations of CBG (mg/L), TBG (nmol/L), SHBG (nmol/L), and IGF-BP3 (mg/L) were measured at baseline and after 3 and 12 months. Changes were analyzed using mixed models and reported as percentage change.</p><p><strong>Results: </strong>In oral estradiol and CPA users, CBG increased by 29% (95% CI, 16, 44%), TBG by 24% (95% CI, 16, 32%), SHBG by 81% (95% CI, 61, 105%) and in oral estradiol and GnRHa users by 47% (95% CI, 7, 101%), 48% (95% CI, 9, 101%), and 242% (95% CI, 104, 474%), respectively. The IGF-BP3 remained unchanged. In transdermal estradiol users, only SHBG changed (+63% [95% CI, 3, 157%]), when combined with GnRHa. In transmasculine participants, CBG, TBG, SHBG, and IGF-BP3 decreased by 13% (95% CI, -21, -4%), 11% (95% CI, -15, -6%), 43% (95% CI, -48, -36%), and 10% (95% CI, -18, -2%) respectively, with no difference in gel vs injections.</p><p><strong>Conclusion: </strong>The GAHT led to an increase of CBG, TBG, and SHBG in estradiol users, more specifically oral estradiol, and to a decrease of SHBG, CBG, TBG, and IGF-BP3 in testosterone users. Recognizing these alterations is crucial for ensuring accurate hormone measurements and optimal patient care.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 5","pages":"614-620"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations.","authors":"Didem Helvacioglu, Aylin Tugba Canbaz, Aysel Tekmenuray-Unal, Yasin Ada, Ozge Yapici, Emine Genc, Sebile Kilavuz, Busra Gurpinar Tosun, Burcu Ozturk Hismi, Tulay Guran","doi":"10.1093/ejendo/lvaf094","DOIUrl":"10.1093/ejendo/lvaf094","url":null,"abstract":"<p><strong>Background: </strong>Peroxisomal fatty acyl-CoA oxidase 1, encoded by ACOX1, initiates and limits the rate of beta-oxidation of very long-chain fatty acids (VLCFA). Biallelic ACOX1 mutations cause pseudo-neonatal adrenoleukodystrophy (PNALD). Primary adrenal insufficiency (PAI) has not been clearly characterized in the 34 PNALD patients reported to date.</p><p><strong>Objective: </strong>Characterizing PAI in a patient and her cousin with PNALD.</p><p><strong>Methods: </strong>Clinical data were recorded, and molecular etiologies were investigated using next-generation sequencing panels and 750K microarray. Plasma steroids and VLCFAs were measured via mass spectrometry.</p><p><strong>Results: </strong>A 1.5-year-old female patient was evaluated for PAI due to hyperpigmentation, hypoglycemia, hyponatremia and hyperkalemia. She had a history of severe neonatal-onset hypotonia, seizures, psychomotor/developmental delay, and neurological regression. Molecular studies revealed a homozygous deletion encompassing exons 13 and 14 of the ACOX1 gene. Biochemical analysis revealed accumulation of saturated VLCFA. Cranial magnetic resonance imaging showed T2 high-intensity areas in bilateral centrum semiovale, basal ganglia, brainstem and cerebellar white matter. High plasma ACTH, low cortisol and steroid precursors along with high plasma renin activity were compatible with a PAI other than congenital adrenal hyperplasia (non-CAH). Abdominal computerized tomography demonstrated bilateral adrenal atrophy. The cousin of the patient with PNALD developed non-CAH PAI at 7 months of age.</p><p><strong>Conclusion: </strong>Adrenal insufficiency should be considered in the phenotypic spectrum of peroxisomal disorders. Fatty acyl-CoA oxidase 1 deficiency may emerge as a peroxisomal etiology of non-CAH PAI.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"K38-K43"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-world outcomes of finerenone in primary aldosteronism.","authors":"Thomas Uslar, Benjamín Sanfuentes, Iván Muñoz, Anand Vaidya, René Baudrand","doi":"10.1093/ejendo/lvaf099","DOIUrl":"10.1093/ejendo/lvaf099","url":null,"abstract":"<p><p>Primary aldosteronism (PA) treatment with mineralocorticoid receptor antagonists (MRAs) is effective but limited by side-effects and low potency of currently available options. Finerenone, a novel MRA, has emerged as a promising alternative but data in PA are lacking. This report presents a real-world study wherein PA patients on eplerenone were forced to switch to finerenone therapy during a national shortage. During treatment with finerenone, blood pressure and antihypertensive dose remained unchanged, but the proportion of patients with normal blood pressure and complete biochemical response was decreased (P = .004 and P = .008, respectively). The latter was determined by a reduction in direct renin concentration, a biomarker previously associated with increased cardiovascular risk in PA. Although these results could be explained by finerenone's unique pharmacokinetics and mechanism of action, further studies are needed to evaluate longitudinal outcomes associated with these findings and determine its effectiveness in PA treatment.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"K50-K53"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ending nuclear weapons, before they end us †.","authors":"Kamran Abbasi, Parveen Ali, Virginia Barbour, Marion Birch, Inga Blum, Peter Doherty, Andy Haines, Ira Helfand, Richard Horton, Kati Juva, Jose F Lapena, Robert Mash, Olga Mironova, Arun Mitra, Carlos Monteiro, Elena N Naumova, David Onazi, Tilman Ruff, Peush Sahni, James Tumwine, Carlos Umaña, Paul Yonga, Chris Zielinski","doi":"10.1093/ejendo/lvaf082","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf082","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 5","pages":"E1-E3"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bariatric surgery promotes recruitment of brown fat linked to alterations in the gut microbiota.","authors":"Carsten T Herz, Oana C Kulterer, Marlene Prager, Rodrig Marculescu, Gerhard Prager, Alexandra Kautzky-Willer, Marcus Hacker, Slave Trajanoski, Harald C Köfeler, Birgit Gallé, Alexander R Haug, David Berry, Florian W Kiefer","doi":"10.1093/ejendo/lvaf081","DOIUrl":"10.1093/ejendo/lvaf081","url":null,"abstract":"<p><strong>Objective: </strong>The mechanisms of bariatric surgery-induced weight loss and metabolic improvements are still incompletely understood and reach beyond malabsorption or calorie restriction. We sought to investigate the effect of bariatric surgery on brown adipose tissue (BAT) activity and a potential connection with changes in energy metabolism, the gut microbiota, and short-chain fatty acid (SCFA) composition.</p><p><strong>Methods: </strong>We included 32 subjects (25 females) with morbid obesity and analyzed their metabolic profile, gut microbiota composition, circulating SCFAs, energy expenditure, and cold-induced BAT activity using [18F]Fluorodeoxyglucose-positron emission tomography-computed tomography before and up to 1 year after bariatric surgery.</p><p><strong>Results: </strong>Twelve months after surgery, the percentage of individuals with active BAT had increased from 28% to 53%. The BAT-negative (BATneg) individuals who had an adverse metabolic profile at baseline compared with subjects with active BAT (BATpos) showed a greater metabolic benefit after surgery. While no changes in overall gut bacterial diversity were observed between BATpos and BATneg, the abundance of 3 specific bacterial families, including Akkermansiaceae, Pasteurellaceae, and Carnobacteriaceae, was distinctly regulated between BAT groups. The bacterial genera most strongly increased in BATpos vs BATneg subjects were all positively correlated with BAT volume and BAT activity. Finally, circulating concentrations of the SCFAs acetate, butyrate, and propionate rose after bariatric surgery and were related to bacterial genera such as Akkermansia, Dialister, and Lachnospiraceae FCS020 group, all known SCFA producers.</p><p><strong>Conclusions: </strong>Bariatric surgery helps recruit active BAT in individuals with obesity and is linked to distinct alterations in the gut microbiome and SCFA composition.</p><p><strong>Trial registration number: </strong>ClinicalTrials.gov (NCT03168009).</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 5","pages":"603-611"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sex differences between mid-life glycaemic traits and brain volume at age 70: a population-based study.","authors":"Nasri Fatih, Alun Hughes, Carole H Sudre, Nishi Chaturvedi, Victoria Garfield, Richard J Silverwood, George Ploubidis, Thomas D Parker, Kirsty Lu, David M Cash, Ian B Malone, Andrew Wong, Josephine Barnes, Marcus Richards, Nick C Fox, Jonathan M Schott, Sarah-Naomi James","doi":"10.1093/ejendo/lvaf090","DOIUrl":"10.1093/ejendo/lvaf090","url":null,"abstract":"<p><p>Higher HbA1c in mid-to-later life has been associated with smaller whole brain volume (WBV) in older women but not men. We explored whether this association was replicated using different markers of (i) glycaemic health [fasting glucose, insulin resistance (HOMA2-IR), and β-cell function (HOMA-%B)] and (ii) brain structure (white or grey matter volume). 453 participants (51% men) from the 1946 British Birth Cohort had glycaemic measures (at age 60-64) and MRI measures (at age ∼70). In women, higher fasting glucose and insulin resistance at age ∼60 were weakly associated with lower WBV at age ∼70 [eg, fasting glucose: β* = -0.07 (95% CI: -0.13, -0.01), P = .02]. No associations emerged for men for any glycaemic marker. HOMA-%B was not associated with brain outcomes in either sex. Women's later-life brain health may be more vulnerable to midlife hyperglycaemia.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"K44-K49"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12084807/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sociodemographic, lifestyle, and medical factors associated with calculated free testosterone concentrations in men: individual participant data meta-analyses.","authors":"Nick Narinx, Ross J Marriott, Kevin Murray, Leen Antonio, Dirk Vanderschueren, Bu B Yeap","doi":"10.1093/ejendo/lvaf076","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf076","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 5","pages":"L21-L22"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}