European Journal of Endocrinology最新文献

{"title":"Uniparental disomy leads to a novel cause of MC2R-related familial glucocorticoid deficiency type 1.","authors":"Amica Corda Müller-Nedebock, Eric Wenzel, Roland Pfäffle","doi":"10.1093/ejendo/lvaf152","DOIUrl":"10.1093/ejendo/lvaf152","url":null,"abstract":"<p><p>Familial glucocorticoid deficiency type 1 (FGD1) is a rare autosomal recessive disease caused by pathogenic variants in the MC2R gene. This case report presents the first documented instance of FGD1 caused by a homozygous 1.421-kb deletion affecting the non-coding promoter region of MC2R. The patient, a 9-year-old girl, presented with severe cortisol insufficiency and hyperpigmentation starting at birth. Genetic testing initially missed the deletion, as standard whole-exome sequencing in 2016 did not include a copy number variation analysis. However, a whole-genome sequencing analysis in 2024 identified the deletion. The variant was inherited through paternal uniparental disomy (UPD), a rare genetic mechanism that caused the homozygous state. This case underscores the value of utilizing current genetic testing approaches, especially in cases where clinical features strongly suggest a genetic etiology despite inconclusive initial genetic testing results. Additionally, it highlights the need to consider non-coding regions and UPD in genetic diagnostics.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"K5-K10"},"PeriodicalIF":5.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741707","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":"Multimodal advanced imaging for precision medicine in pituitary tumors.","authors":"Felicia A Hanzu, Josep Puig, Paloma Puyalto, Manel Puig-Domingo","doi":"10.1093/ejendo/lvaf144","DOIUrl":"10.1093/ejendo/lvaf144","url":null,"abstract":"<p><p>Advances in imaging technologies are revolutionizing the understanding and management of pituitary diseases including pituitary adenomas, hypopituitarism, and neuroendocrine disorders. This review highlights state-of-the-art bioimaging tools, including magnetic resonance imaging, spectroscopy, functional positron emission tomography, and radiomics, and emphasizes their roles in diagnosis, characterization, treatment planning, and prognostication in precision medicine of pituitary tumors. We discuss technological advancements, integration with omics data, and future research directions for enhancing diagnostic accuracy and therapeutic outcomes. This comprehensive review underscores the pivotal role of advanced bioimaging tools in enhancing diagnostic accuracy, individualized treatment planning, and prognostic assessment, ultimately paving the way for a more personalized approach to managing pituitary tumors.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"R1-R14"},"PeriodicalIF":5.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144616887","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":"Comment on musculoskeletal disease in acromegaly: a population-based registry study.","authors":"Wenjian Wang, Zhiwei Han, Guoying Wang","doi":"10.1093/ejendo/lvaf161","DOIUrl":"10.1093/ejendo/lvaf161","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"L7-L8"},"PeriodicalIF":5.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834539","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":"Author reply to comments by Wang et al. regarding \"Musculoskeletal disease in acromegaly-a population-based registry study\".","authors":"Christian Rosendal, Jakob Dal","doi":"10.1093/ejendo/lvaf162","DOIUrl":"10.1093/ejendo/lvaf162","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"L9"},"PeriodicalIF":5.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834538","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":"Improving diagnosis in primary aldosteronism using HISTALDO and nodule size metrics.","authors":"Karolina Solhusløkk Höse, Adam Stenman, Henrik Falhammar, Cristina Volpe, Catharina Larsson, Jan Zedenius, C Christofer Juhlin","doi":"10.1093/ejendo/lvaf157","DOIUrl":"10.1093/ejendo/lvaf157","url":null,"abstract":"<p><strong>Background: </strong>Primary aldosteronism (PA) is the leading cause of secondary hypertension. The 2022 WHO classification introduced the HISTALDO system, separating solitary aldosterone-producing adenomas/nodules (APA/APN; classical histology) from multiple nodules/micronodules (MAPN/MAPM; non-classical histology). Surgery often cures classical cases, while non-classical cases frequently recur. HISTALDO uses CYP11B2 immunohistochemistry, but interpretation is challenged by background nodules. A \"B2 ratio\" (size ratio of the largest to second-largest CYP11B2-positive nodule) has been proposed to aid diagnosis.</p><p><strong>Objective: </strong>To assess whether standardized tissue sampling and the B2 ratio improve PA diagnosis and correlate with outcomes.</p><p><strong>Methods: </strong>A prospective study of 75 unilateral PA patients undergoing adrenalectomy (2017-2022) at Karolinska University Hospital. CYP11B2 immunohistochemistry was performed using a standardized protocol, and the B2 ratio was calculated in cases with multiple CYP11B2-positive nodules (HISTALDO B2R). Outcomes were assessed using Primary Aldosteronism Surgical Outcome criteria.</p><p><strong>Results: </strong>HISTALDO classified 20 cases as classical and 55 as non-classical (median B2 ratio 9). Using a B2 ratio cut-off ≥8.1, 29/55 non-classical cases were reclassified, yielding 49 classical and 26 non-classical cases under HISTALDO B2R. Higher B2 ratios correlated with complete clinical response (P = .0038) and fewer antihypertensive medications postoperatively (R = -0.4, P = .0022). A trend for B2 ratio as an independent predictor of complete response was observed (OR = 1.07, P = .058).</p><p><strong>Conclusions: </strong>HISTALDO may over-report non-classical histology. Adding the B2 ratio improves diagnostic accuracy, distinguishing APA with background zona glomerulosa activity from true multinodular disease, facilitating patient management and follow-up.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"278-288"},"PeriodicalIF":5.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741705","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":"Fasting and postprandial oxytocin and incretin dynamics in women with polycystic ovary syndrome and healthy controls.","authors":"Irmak Gunesli, Elif Ulug, Aylin Acikgoz Pinar, Oytun Portakal, Bulent O Yildiz","doi":"10.1093/ejendo/lvaf154","DOIUrl":"10.1093/ejendo/lvaf154","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the dynamics of oxytocin, glucagon-like peptide-1 (GLP-1), and glucose-dependent insulinotropic polypeptide (GIP) in response to a mixed meal test (MMT) in women with polycystic ovary syndrome (PCOS) and to assess their associations with hunger, satiety, and food craving.</p><p><strong>Design: </strong>This was a cross-sectional study.</p><p><strong>Methods: </strong>Thirty-six women with PCOS (mean age: 21.6 ± 2.6 years; body mass index [BMI]: 25.5 ± 4.6 kg/m²) and 36 age- and BMI-matched healthy controls were enrolled. All participants underwent an MMT during the early follicular phase with blood samples collected at 0, 30, 60, and 120 min. Hunger, satiety, and food craving were assessed via visual analog scale and Food Craving Questionnaire (FCQ).</p><p><strong>Results: </strong>Polycystic ovary syndrome group showed lower baseline oxytocin levels than controls (1294 ± 93 vs 1580 ± 83 pg/mL, respectively; P = .024). In response to a mixed meal, oxytocin declined within 30 min in controls but remained unchanged in the PCOS group. Both baseline and area under the curve values for GLP-1 and GIP were reduced in the PCOS group (P < .001, P = .022; and P < .001, P = .033, respectively). Oxytocin and GLP-1 levels were significantly correlated at all time points. In controls only, early oxytocin changes correlated negatively with hunger and positively with satiety. Food Craving Questionnaire scores were higher in PCOS (P < .001), indicating increased food craving.</p><p><strong>Conclusions: </strong>Women with PCOS show lower fasting oxytocin and incretin levels and impaired postprandial responses. The correlation between oxytocin and GLP-1 indicates a potentially shared pathway in appetite regulation, which may be altered in PCOS and warrants further investigation.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"255-261"},"PeriodicalIF":5.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752668","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":"Exenatide for diagnosing endogenous hyperinsulinemic hypoglycemia: a randomized placebo-controlled, double-blind, cross-over proof-of-principle study.","authors":"Matthias Hepprich, Christina Romberg, Jonathan Mudry, Julie Refardt, Damian Wild, Kwadwo Antwi, Emanuel Christ","doi":"10.1093/ejendo/lvaf153","DOIUrl":"10.1093/ejendo/lvaf153","url":null,"abstract":"<p><strong>Objective: </strong>The 72 h fasting test, gold standard for diagnosing endogenous hyperinsulinemic hypoglycemia (EHH), is cumbersome and costly. We evaluated exenatide, a GLP-1 receptor agonist, as a faster, less burdensome alternative diagnostic tool.</p><p><strong>Design and methods: </strong>In this prospective, placebo-controlled, double-blind, randomized cross-over, proof-of-principle study, 10 μg intravenous exenatide was compared to placebo in 14 patients with confirmed EHH in a fasting test. Fourteen matched controls received 10 μg exenatide unblinded. Clinical monitoring and measurements of glucose, insulin, C-peptide, and proinsulin were performed for 4 h. Follow-up for EHH patients included imaging and histology.</p><p><strong>Results: </strong>Exenatide induced diagnostic hypoglycemia in 6 of 14 EHH patients (42%) compared to none with placebo (P = .005). In patients with EHH, glucose nadir occurred earlier after exenatide (67 min [95% CI 50-142] vs 210 min [95% CI 174-219], P < .0001) and at lower glucose levels (2.68 mmol/L [95% CI 2.26-3.02] vs 3.2 mmol/L [95% CI 2.92-3.77], P < .0001) compared to placebo. Proinsulin levels 120 min post-exenatide were higher in patients with EHH [69 pmol/L (95% CI 3.8-232)] compared to controls [9 pmol/L (95% CI 4.5-16.9), P = .0001]. Compared to the fasting test, exenatide significantly shortened time to hypoglycemia (1.38 h [95% CI .67-2.99] vs 12 h [95% CI 1.44-36.1], P = .032). Exenatide was well tolerated and preferred by patients over the fasting test.</p><p><strong>Conclusions: </strong>Exenatide is a promising, faster, less cumbersome, and less expensive diagnostic tool for EHH compared to the fasting test. Larger trials are warranted to confirm its diagnostic utility. Trial Registration  ClinicalTrials.gov (NCT04909333).</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"247-254"},"PeriodicalIF":5.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759527","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":"Paraprotein-induced spurious hypercalcaemia: diagnostic pitfalls in two cases.","authors":"Nathan Lorde, Guy Pratt, Tarekegn Geberhiwot, John Ayuk, Neil Gittoes","doi":"10.1093/ejendo/lvaf151","DOIUrl":"10.1093/ejendo/lvaf151","url":null,"abstract":"<p><p>This brief report describes 2 cases in which paraprotein caused spurious biochemistry results. In both cases standard laboratory measurements of calcium indicated the patients were hypercalcaemic and had significantly raised Vitamin D concentrations in serum. However, use of alternative measurements of calcium and vitamin D showed that these results were spurious. Clinicians looking after patients with significant paraprotein concentrations or other significant protein abnormalities should be aware of the possibility of assay interference when reviewing their biochemistry results. This awareness can be vital in avoiding unnecessary investigations or treatments, thus not only saving resources but also protecting patients from harm that may be caused by inappropriate therapies.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"K1-K4"},"PeriodicalIF":5.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144714981","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":"Incidence of hypothyroidism in girls with Turner syndrome in Korea on the basis of real-world evidence from the Korean National Health Insurance Service database.","authors":"Hong Kyu Park, Young Suk Shim, Hae Sang Lee","doi":"10.1093/ejendo/lvaf150","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf150","url":null,"abstract":"<p><strong>Objective: </strong>Hypothyroidism is the most commonly observed autoimmune disorder in individuals with Turner syndrome. The aim of this study was to determine the risk of hypothyroidism in patients with Turner syndrome by comparing its incidence in this patient population to that in the general population.</p><p><strong>Design: </strong>In this retrospective cohort study, patients in South Korea were followed for 10 years, and claims data from the National Health Insurance Service database were collected between 2007 and 2019.</p><p><strong>Methods: </strong>The incidence of hypothyroidism among patients with Turner syndrome and in the general population under 65 years of age was determined. Turner syndrome was identified by at least 2 diagnosis codes, and hypothyroidism was defined by the prescription of thyroid hormone analogs lasting 180 days or more, accompanied by a hypothyroidism diagnosis code. Subscribers who had records related to medical conditions that required thyroid hormone replacement were excluded from the cohort.</p><p><strong>Results: </strong>The cohort included 2973 patients with Turner syndrome and 21 239 127 females. Hypothyroidism developed in 11.4% of the patients with Turner syndrome and in 2.9% of the general population. The incidence rates per 10 000 person-years among patients with Turner syndrome were 86.9 (95% CI, 64.5-114.6), 101.0 (95% CI, 82.2-122.9), 139.6 (95% CI, 113.3-170.1), and 139.4 (95% CI, 112.1-171.3) in the groups aged 0-9, 10-19, 20-29, and 30-65 years, respectively, and those in the general population were 1.7 (95% CI, 1.6-1.7), 5.0 (95% CI, 5.0-5.1), 29.7 (95% CI, 29.5-29.9), and 39.1 (95% CI, 39.0-39.2), respectively. The risk of hypothyroidism in patients with Turner syndrome was approximately 45 times greater than that in the general population before 10 years of age.</p><p><strong>Conclusions: </strong>Regular thyroid function testing and antibody screening should be initiated early in life to facilitate the early detection of hypothyroidism in patients with Turner syndrome.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"193 2","pages":"232-239"},"PeriodicalIF":5.2,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834547","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":"Impact of old and current immunoassays on the 1 mg overnight dexamethasone suppression test: comparison with LC-MS/MS.","authors":"Laura Rotolo, Greta Galante, Kimberly Coscia, Valentina Bissi, Lorenzo Tucci, Marco Mezzullo, Alessandra Gambineri, Valentina Vicennati, Guido Zavatta, Uberto Pagotto, Guido Di Dalmazi, Flaminia Fanelli","doi":"10.1093/ejendo/lvaf141","DOIUrl":"10.1093/ejendo/lvaf141","url":null,"abstract":"<p><strong>Objective: </strong>The influence of immunoassay performance in hypercortisolism and dexamethasone suppression test (DST) settings was scarcely investigated. We evaluated the effectiveness of 2 immunoassays in detecting hypercortisolism compared to recommended liquid chromatography-tandem mass spectrometry (LC-MS/MS), and compared immunoassay analytical performance in basal and post-DST conditions.</p><p><strong>Methods: </strong>We measured cortisol in post-DST sera of patients with suspected hypercortisolism or adrenal incidentalomas by Elecsys gen I (n = 260), and by Access (n = 217). All samples were also measured by a validated LC-MS/MS method. We estimated hypercortisolism rate according to the established 50 nmol/L cutoff, and generated immunoassay-specific cutoffs providing >95% sensitivity and >80% specificity. Finally, we compared cortisol measurements in basal and post-DST samples.</p><p><strong>Results: </strong>Using the 50 nmol/L cutoff, both immunoassays detected lower rates of hypercortisolism compared with LC-MS/MS, particularly in patients with adrenal adenomas (P < .050). Elecsys gen I and Access determined 6.9% and 6.4% possible false negatives, respectively. Elecsys gen I also caused 3.8% possible false positives. Optimal cutoff was 41 nmol/L for Elecsys gen I (sensitivity: 97.7%; specificity: 80.8%), and 33 nmol/L for Access (sensitivity: 97.5%; specificity: 78.3%). In basal and post-DST samples, Elecsys gen I overestimated by 32.5% and 6.1%, whereas Access underestimated by -4.7% and -5.9% compared to LC-MS/MS cortisol measurements, respectively. Sex differences in method deviations were noted.</p><p><strong>Conclusions: </strong>Both immunoassays demonstrated remarkable underdetection of hypercortisolism, suggesting the application of a method-specific cutoff. Immunoassay performance may not be uniform in basal and post-DST conditions and should be purposely examined. Accurate LC-MS/MS methods should be preferred in hypercortisolism settings.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"188-196"},"PeriodicalIF":5.2,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636525","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}