European Journal of Endocrinology最新文献

{"title":"Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing.","authors":"Aayushi Srivastava, Diamanto Skopelitou, Beiping Miao, Sara Giagiobbe, Nagarajan Paramasivam, Abhishek Kumar, Chiara Diquigiovanni, Elena Bonora, Obul Reddy Bandapalli, Asta Försti, Kari Hemminki","doi":"10.1093/ejendo/lvaf045","DOIUrl":"10.1093/ejendo/lvaf045","url":null,"abstract":"<p><strong>Objective: </strong>Thyroid cancer (TC) is the most common endocrine malignancy, with 90%-95% of the cases representing non-medullary thyroid cancer (NMTC). Familial cases account only for a few of all cases and the underlying genetic causes are still poorly understood.</p><p><strong>Methods: </strong>We whole-genome sequenced affected and unaffected members of an Italian NMTC family and applied our in-house developed Familial Cancer Variant Prioritization Pipeline (FCVPPv2) which prioritized 12 coding variants. We refined this selection using the VarSome American College of Medical Genetics and Genomics (ACMG) implementation, SNAP2 predictions and further in silico scores.</p><p><strong>Results: </strong>We prioritized 4 possibly pathogenic variants in 4 genes including Ret proto-oncogene (RET), polypeptide N-acetylgalactosaminyltransferase 10 (GALNT10), ubinuclein-1 (UBN1), and prostaglandin I2 receptor (PTGIR). The role of RET point mutations in medullary thyroid carcinoma is well established. Similarly, somatic rearrangements of RET are known in papillary TC, a specific histotype of NMTC. In contrast to RET, no germline variants in PTGIR, GALNT10, or UBN1 have been linked to the development of TC to date. However, alterations in these genes have been shown to affect pathways related to cell proliferation, apoptosis, growth, and differentiation, as well as posttranslational modification and gene regulation. A thorough review of the available literature together with computational evidence supported the interpretation of the 4 shortlisted variants as possibly disease-causing in this family.</p><p><strong>Conclusions: </strong>Our results implicate the first germline variant in RET in a family with NMTC as well as the first germline variants in PTGIR, GALNT10, and UBN1 in TC.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 4","pages":"398-407"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771662","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":"Impaired Accuracy of the Dexamethasone Suppression Test After Bariatric Surgery: Implications for Post-Surgical Cortisol Interpretation.","authors":"Anna Casteràs, Enzamaria Fidilio, Marta Comas, Alba Zabalegui, Vanesa Flores, Marina Giralt, Noelia Díaz-Troyano, Roser Ferrer, Ramon Vilallonga, Andreea Ciudin, Betina Biagetti","doi":"10.1093/ejendo/lvaf053","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf053","url":null,"abstract":"<p><strong>Background: </strong>The impact of bariatric surgery (BS) on the performance of 1mg Dexamethasone suppression test (DST) is not well established.</p><p><strong>Objective: </strong>(1) To evaluate the intraindividual results of the DST in a group of patients before and 2 years after BS, and (2) to assess plasma dexamethasone levels and other factors influencing the reliability of the DST.</p><p><strong>Methods: </strong>We conducted a prospective longitudinal study including 38 subjects evaluating DST before and 2 years after BS. We also compared DST results, plasma dexamethasone levels, and related factors across three groups: individuals of the previous cohort two years post-BS (n= 21), patients with severe obesity without BS (pwO) (n= 10), and healthy controls (n= 7).</p><p><strong>Results: </strong>Post-BS patients had higher cortisol levels after DST compared to prior (0.9 vs. 0.7 µg/dL; p<0.01). Four individuals post-BS had cortisol levels >1.8 µg/dL in absence of autonomous cortisol secretion. Plasma dexamethasone levels were significantly lower in post-BS patients (1.9 ng/dL) compared to non-operated pwO (3.7 ng/dL) and healthy controls (4.0 ng/mL), p<0.01. Multivariate analysis identified BS (β= -1.258, p= 0.01) and SHBG levels (β= -0.013, p= 0.04) as significant independent predictors of plasma dexamethasone concentrations.</p><p><strong>Conclusion: </strong>Post-BS subjects showed higher post-DST cortisol levels and reached lower plasma dexamethasone concentration compared to non-operated individuals, which may lead to false-positive results. These findings highlight the need to consider dexamethasone measurements to enhance DST interpretation in post-BS patients. Further studies are necessary to validate these findings in broader populations. The underlying mechanisms need to be explored.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700049","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":"Low psychosocial burden in patients with paraganglioma syndrome: results from the Head and Neck Paraganglioma Registry in a single center.","authors":"Carolijn J M de Bresser, Johannes A Rijken, Mark J C van Treijen, Bernadette P M van Nesselrooij, Mischa de Ridder, Remco de Bree, Gert J de Borst, Bart-Jeroen Petri, Rachel S van Leeuwaarde","doi":"10.1093/ejendo/lvaf033","DOIUrl":"10.1093/ejendo/lvaf033","url":null,"abstract":"<p><strong>Objective: </strong>Autosomal dominant variants in the succinate dehydrogenase gene (SDHx) are responsible for ∼50% of the development of hereditary paragangliomas and pheochromocytomas (PPGLs). Limited research has been conducted on the psychosocial impact of possessing a hereditary tumor syndrome. In this study, the psychological impact of harboring a genetic variant associated with familial paraganglioma syndrome was assessed. Secondary objectives included the analysis of potential variations in quality of life in (pre)symptomatic stage and comparison with the general Dutch population and other hereditary tumor syndromes.</p><p><strong>Methods: </strong>The first 100 patients from the Head and Neck PGL Registry in the University Medical Center Utrecht were selected. Psychosocial outcomes were assessed cross-sectionally using 5 validated health-related questionnaires: EuroQol 5D-5L, Cancer Worry Scale, Hospital Anxiety and Depression Scale, Modified Fatigue Impact Scale, and EORTC QLQ-C30.</p><p><strong>Results: </strong>No significant differences were observed when stratified for (pre)symptomatic status or genetic variant status. Hereditary PPGLs tended to express greater concern about the development of PPGLs in family members. Complaints in the physical domains were more frequently observed in the sporadic group. The PPGL cohort demonstrated better outcomes when compared to other hereditary tumor syndromes and aligned with the Dutch tariff.</p><p><strong>Conclusion: </strong>The psychosocial impact of harboring a PPGL seems to align with the general healthy Dutch population. Clinical care management involving a multidisciplinary approach and comprehensive counseling on PPGLs and their genetic origins, effectively supports patients. Routine psychological support in the care for these patients does not seem imperative and should be offered indicated on a case-by-case basis.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"257-265"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143491289","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":"Retraction of: Conventional steroids vs. dual-release hydrocortisone on metabolic, cardiovascular, and bone outcomes in adrenal insufficiency: a 10-year study.","authors":"","doi":"10.1093/ejendo/lvaf049","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf049","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 3","pages":"Z1"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656466","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":"What is the research question? Estimands explained.","authors":"Rolf H H Groenwold, Saskia le Cessie, Olaf M Dekkers","doi":"10.1093/ejendo/lvaf048","DOIUrl":"10.1093/ejendo/lvaf048","url":null,"abstract":"<p><p>Although many papers of medical research report on a treatment effect, it is not always clear what is exactly meant by that effect. An estimand is a precise definition of a treatment effect and includes 5 attributes: population, treatment, (outcome) variable, intercurrent events, and summary measure. In this paper, we discuss how the estimand framework helps to align different phases of studies of medical treatments, from research objectives to design, conduct, analysis, and reporting of results.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"E5-E7"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623927","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":"Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency.","authors":"Salwa A Musa, Mohamed A Abdullah, Samar S Hassan, Luqman S Fauzi, Omer O Babiker, Amna I Ahmed, Marwa Mohammedali, Claire Hutchison, Ghassan Mohamadsalih, Charlotte L Hall, Saptarshi Maitra, Areej A Ibrahim, Younus Qamar, Avinaash V Maharaj, Lucia M Marroquin Ramirez, Jordan Read, Li F Chan, Louise A Metherell, Chris J Smith","doi":"10.1093/ejendo/lvaf037","DOIUrl":"10.1093/ejendo/lvaf037","url":null,"abstract":"<p><strong>Objective: </strong>Studies of primary adrenal insufficiency (PAI) in African children are rare, but in Sudan, congenital adrenal hyperplasia (CAH) and triple A syndrome are the most common genetic causes. Differential diagnosis is challenging, especially in resource-limited settings, where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing may be restricted.</p><p><strong>Design: </strong>Forty-eight patients from 43 families (31 male:17 female) with PAI were included (CAH/triple A excluded). Additional features seen included white matter changes on magnetic resonance imaging, auto-immune features, and/or obesity. Sanger and whole exome sequencing (WES) were employed for diagnosis, confirmation, and segregation with in vitro assays to investigate potential splice defects.</p><p><strong>Results: </strong>In 21/43 families, a genetic aetiology consistent with non-autoimmune PAI was discovered, and in 3 families, autoimmune regulator (AIRE) mutations were found, indicating an autoimmune origin. In Sudan, adenosine triphosphate (ATP) binding cassette subfamily D member 1 (ABCD1)/nicotinamide nucleotide transhydrogenase (NNT)/AIRE mutations were commonest, including recurrent NNT splice and AIRE deletion mutations. In 2 families, we identified ARSA mutations fitting a diagnosis of metachromatic leucodystrophy (MLD), in which adrenal insufficiency has not previously been described. In the remaining 17 families, no causative gene mutations were found. Putative causal variants for comorbidities were concomitantly detected.</p><p><strong>Conclusions: </strong>In this population, WES revealed itself as a useful frontline tool for the differential diagnosis of individuals presenting with adrenal insufficiency, including discrimination between MLD and adrenoleucodystrophy and giving plausible gene defects for additional comorbidities such as obesity. Such genetic diagnoses are crucial to design optimal treatment plans and for genetic counselling in affected individuals and their families.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"277-289"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596467","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":"Diabetic complications in women with type 2 diabetes and polycystic ovary syndrome.","authors":"Meri-Maija Ollila, Ari Hautakoski, Martti Arffman, Laure Morin-Papunen, Minna Koivikko, Tapani Ebeling, Reijo Sund, Terhi Piltonen","doi":"10.1093/ejendo/lvaf026","DOIUrl":"10.1093/ejendo/lvaf026","url":null,"abstract":"<p><strong>Objective: </strong>To investigate whether increased prevalence of type 2 diabetes (T2DM) in women with polycystic ovary syndrome (PCOS) translates into increased risk of diabetic complications.</p><p><strong>Design: </strong>A cohort study based on the nationwide Diabetes in Finland database. The main analysis included 1288 women with PCOS and T2DM and 177 555 women with T2DM without PCOS (controls). Moreover, a sub-analysis that compared each woman with PCOS and T2DM to 5 controls with matching diagnosis date of T2DM and the age at onset of T2DM was conducted.</p><p><strong>Methods: </strong>The risk for diabetic complications (ie, a composite variable including retinopathy, neuropathy, nephropathy, cardiovascular, cerebrovascular or foot complications, and all-cause death) during the period 1996-2017 was analyzed using Cox regression with PCOS as the time-dependent variable and adjustment for education level, year of T2DM diagnosis, and age at T2DM diagnosis. The unadjusted cumulative incidence of diabetic complications was calculated among women with PCOS and matched controls.</p><p><strong>Results: </strong>The median age at T2DM diagnosis was significantly lower in women with PCOS compared with controls (33 [25th; 75th percentiles: 25; 41] versus 62 [53; 71] years). The 20-year cumulative incidence of diabetic complication after T2DM diagnosis was 35% in women with PCOS and 48% in matched controls. Women with PCOS had a smaller adjusted hazard ratio (0.70, 95% CI, 0.60-0.82) for diabetic complication.</p><p><strong>Conclusions: </strong>The findings of the present register study suggest that PCOS does not seem to increase the risk of diabetic complications. However, studies with longer follow-up and clinical data, such as body mass index, are needed to verify this.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"202-209"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467344","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":"Musculoskeletal disease in acromegaly-a population-based registry study.","authors":"Christian Rosendal, Mai Christiansen Arlien-Søborg, Eigil Husted Nielsen, Claus Larsen Feltoft, Åse Krogh Rasmussen, Marianne Skovsager Andersen, Jens Otto Lunde Jørgensen, Jakob Dal","doi":"10.1093/ejendo/lvaf047","DOIUrl":"10.1093/ejendo/lvaf047","url":null,"abstract":"<p><strong>Objective: </strong>Acromegaly is associated with multiple musculoskeletal complications that affect the quality of life and work ability. We aimed to examine the risk of osteoarthritis, musculoskeletal surgery (including joint replacement), osteoporosis, fractures, and analgesic consumption in Danish acromegaly patients.</p><p><strong>Design: </strong>National, registry-based cohort study.</p><p><strong>Methods: </strong>All validated incidents and prevalent cases of acromegaly in the period 1977-2021 (n = 844) were included and matched 1:100 with healthy controls. Outcomes were identified using diagnosis, surgical procedure, and medication codes and analyzed using Cox regression and Kaplan-Meier plots.</p><p><strong>Results: </strong>Patients were at significantly increased risk of osteoarthritis of the shoulder [hazard ratio (HR): 5.25 (3.05; 9.06)], hip [HR: 3.15 (2.57; 3.87)], and knee [HR: 2.25 (1.85; 2.72)], and medically treated osteoporosis [HR: 2.13 (1.64; 2.78)] even before acromegaly diagnosis. The risk of joint replacement surgery of the shoulder [HR: 4.60 (2.57; 8.25)], hip [HR: 3.32 (2.67; 4.12)], and knee [HR: 2.52 (1.89; 3.36)] was increased in acromegaly patients, as was the risk of being prescribed weak analgesics [HR: 1.22 (1.04; 1.44)] or opioids [HR: 1.58 (1.38; 1.82)]. Surgical complications [HR: 2.19 (1.59; 3.03)] and repeat hip surgery [HR: 3.64 (2.09; 6.34)] also exhibited increased risk in patients.</p><p><strong>Conclusion: </strong>In acromegaly, severe osteoarthritis involving multiple joints develops even before acromegaly diagnosis and continues to progress over time after acromegaly treatment. Furthermore, acromegaly imposes an increased risk of medically treated osteoporosis, musculoskeletal surgery-particularly joint replacement surgery-, surgical complications, and the necessity of analgesic medication. Our findings warrant further research into the management of musculoskeletal disease in acromegaly.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"308-317"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623925","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 steroid hormones and subclinical atherosclerosis progression in postmenopausal women.","authors":"Irene J Chen, Frank Z Stanczyk, Intira Sriprasert, Roksana Karim, Donna Shoupe, Naoko Kono, Howard N Hodis, Wendy J Mack","doi":"10.1093/ejendo/lvaf032","DOIUrl":"10.1093/ejendo/lvaf032","url":null,"abstract":"<p><strong>Objective: </strong>The Early versus Late Intervention Trial with Estradiol demonstrated that hormone therapy (HT) reduces subclinical atherosclerosis progression in healthy postmenopausal women who initiated HT in proximity to menopause (<6 years) but not in those distant from menopause (≥10 years). This analysis explores the role of serum sex steroid hormones and sex hormone-binding globulin (SHBG) in atherosclerosis progression, examining differences based on time since menopause.</p><p><strong>Design: </strong>Post-trial analysis.</p><p><strong>Methods: </strong>The study included 535 healthy postmenopausal women; nearly half received HT. Serum levels of estradiol, estrone, testosterone, and SHBG were measured at baseline, 12 months, and 36 months. Carotid artery intima-media thickness (CIMT) was assessed every 6 months. Mixed-effects linear models evaluated the relationship between sex steroid hormones, SHBG, and CIMT progression, with time since menopause included as an interaction term, adjusting for age, hysterectomy, baseline CIMT, systolic blood pressure, and body mass index.</p><p><strong>Results: </strong>Late postmenopausal women were older with higher baseline CIMT. Associations between estradiol, estrone, and SHBG levels with CIMT progression differed significantly by time since menopause (interaction P < .01). In early postmenopause, CIMT progression was significantly inversely associated with SHBG (P = .024) and nonsignificantly inversely with estradiol and estrone. In late postmenopause, CIMT progression was significantly positively associated with estradiol (P = .005), estrone (P < .001), and SHBG (P = .037).</p><p><strong>Conclusions: </strong>Serum sex steroid hormones and SHBG relate differently to CIMT progression based on time since menopause. Estradiol, estrone, and SHBG levels show opposite associations with CIMT progression in early versus late postmenopause, highlighting the importance of HT timing in cardiovascular disease.</p><p><strong>Clinical trial registration number: </strong>ClinicalTrials.gov, NCT00114517.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"248-256"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467346","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":"Prevalence and main characteristics of primary aldosteronism in bilateral macronodular adrenal disease: a systematic review of the literature.","authors":"Annalisa Panarelli, Júnia Ribeiro de Oliveira Longo Schweizer, Isabel Stüfchen, Denise Brüdgam, Stephanie Zopp, Petra Zimmermann, Paolo Mulatero, Sinan Deniz, Felix Beuschlein, Martin Reincke, Elisabeth Nowak","doi":"10.1093/ejendo/lvaf020","DOIUrl":"10.1093/ejendo/lvaf020","url":null,"abstract":"<p><strong>Context: </strong>Bilateral macronodular adrenal disease (BMAD) typically presents with bilateral benign adrenocortical macronodules and variable cortisol excess. Anecdotal evidence suggests oversecretion of other adrenal steroids, including mineralocorticoids.</p><p><strong>Hypothesis: </strong>We hypothesized that primary aldosteronism (PA) can occur in BMAD, resulting in a distinct, more severe phenotype compared to BMAD with isolated cortisol hypersecretion or unilateral PA (uPA).</p><p><strong>Objective: </strong>To assess the prevalence and characteristics of PA in BMAD.</p><p><strong>Methods: </strong>We systematically reviewed case reports and series of BMAD patients with PA, following PRISMA guidelines. BMAD was defined by bilateral adrenal nodules ≥10 mm. PA diagnosis followed US or Japanese Endocrine Society guidelines. We compared these findings with 2 cohorts from LMU Hospital Munich: BMAD with isolated cortisol hypersecretion and uPA.</p><p><strong>Results: </strong>From 1018 articles, 18 representing 68 cases were included. Of these, 66 had BMAD with PA and 2 had BMAD with aldosterone precursor excess. The PA proportion in published BMAD series ranged from 2% to 43%. BMAD patients with PA were predominantly male (75%) and younger (median 51.5 years) than those with isolated cortisol hypersecretion (median 60.5 years, P < .01). Their median blood pressure was higher (170/100 mm Hg) compared to those with isolated cortisol hypersecretion (138/80 mm Hg) or uPA (153/94 mm Hg, P < .01). Treatment was only described in 28 cases, with 93% undergoing adrenalectomy. Clinical outcome was similar across groups post-treatment.</p><p><strong>Conclusion: </strong>This review highlights the need for increased screening for PA in younger, hypertensive BMAD patients. Larger multicenter studies are needed to determine the association between these conditions, cardiovascular risk, and optimal treatment.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"S15-S25"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448598","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}