Clinical Endocrinology最新文献

{"title":"Current Approaches to Support Patients to Withdraw From Image and Performance Enhancing Drugs.","authors":"Elizabeth Hyams, Bonnie Grant, Richard Quinton, Channa N Jayasena","doi":"10.1111/cen.70181","DOIUrl":"https://doi.org/10.1111/cen.70181","url":null,"abstract":"<p><p>Image and performance-enhancing drugs (IPEDs) include agents such as androgens, growth hormone, and erythropoietin, which are used to enhance appearance and physical performance. Androgens, also known as anabolic-androgenic steroids (AAS), are the most used IPEDs worldwide. While historically associated with elite athletes, androgen abuse is now widely prevalent among recreational athletes, with a lifetime prevalence of 6.4% in men. Androgens, testosterone and its derivatives, promote muscle growth, lipolysis and haematopoiesis and, thus, physical strength, endurance, and muscularity. However their abuse is associated with significant adverse effects across multiple organ systems. Androgen abuse is associated with cardiovascular complications, hepatic dysfunction, psychiatric disorders, and endocrine disruption, notably suppression of the hypothalamic-pituitary-gonadal axis, leading to androgen-induced hypogonadism. Symptoms of androgen-induced hypogonadism, such as fatigue, low mood, and sexual dysfunction, are common following cessation and may persist for months to years even when there has been biochemical recovery. Psychiatric disorders include mood disorders, anxiety and suicidality, highlighting the complexity of androgen withdrawal management. Current clinical approaches prioritise complete cessation, supported by non-judgmental, multidisciplinary care. Management strategies include 'watch-and-wait' for hormonal recovery, although this can be prolonged and is not always associated with restoration of well-being. Pharmacological interventions include selective oestrogen receptor modulators, hCG, aromatase inhibitors or prescribed testosterone therapy. These therapies remain unlicensed and lack robust evidence, with treatment outcomes that are uncertain and highly variable. Psychological support and harm-reduction services, play a key role in engagement. In the absence of standardised guidelines and the increasing burden of androgen-related harm, further research is essential to optimise evidence-based care for affected individuals.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148599809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis of Growth Hormone Deficiency in Children: Comparative Performance of Arginine Versus Glucagon as the First Stimulation Test","authors":"David Shaki,&nbsp;Daria Shvarts,&nbsp;Eli Hershkovitz,&nbsp;Lior Carmon,&nbsp;Hazan Guy,&nbsp;Bachar Yoav,&nbsp;Alon Haim","doi":"10.1111/cen.70146","DOIUrl":"10.1111/cen.70146","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Growth hormone deficiency (GHD) diagnosis typically requires the performance of two sequential stimulation tests. Glucagon stimulation test (GST) and arginine stimulation test (AST) are widely used. This study aimed to determine the most suitable order of tests.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>A retrospective study comparing GST-first group and AST-first group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients</h3>\u0000 \u0000 <p>Children aged 1 to 17 years with suspected GHD who underwent testing between 2017 and 2022 using either GST or the AST initially. Exclusion criteria included patients with genetic syndromes or obesity and those who performed the tests more than 6 months apart.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Measurements</h3>\u0000 \u0000 <p>In order to determine the optimal order of tests, the study calculated the error rate of the first test in light of the final diagnosis after the second test using a peak GH cut-off 7.5 ng/mL. Variables such as sex, age, BMI, and socioeconomic status were analysed for their influence on outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 881 children were included. Based on the initial GHST performed, the study population was divided into two subgroups: GST-first group (712 subjects) and AST-first group (171 subjects). The proportion of discordant results was significantly lower in the GST-first group — 37.4% compared to 50.7% in the AST -first group (<i>p</i> = 0.048). In stepwise logistic regression none of the examined characteristics such as gender, age, BMI, priming of sex hormones prior to the tests or socioeconomic status demonstrated a statistically significant effect on the probability of discordant results in our study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study demonstrated that GST is associated with a lower rate of discordant results compared to AST and potentially reduces the need for a second test, minimising patient inconvenience, lowering healthcare expenses, and decreasing time-consuming hospital visits for families.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"105 2","pages":"213-219"},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70146","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147764258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physiological Basis of Sex Differences in Human Performance and Exercise-Associated Pathology","authors":"David A. Holdsworth,&nbsp;Thomas J. O'Leary,&nbsp;Craig L. Doig,&nbsp;Natalie Taylor,&nbsp;Jasminder Dosanjh,&nbsp;David R. Woods,&nbsp;Michael J. Stacey,&nbsp;Robert M. Gifford","doi":"10.1111/cen.70150","DOIUrl":"10.1111/cen.70150","url":null,"abstract":"<p>The presence of sex differences in human physical performance is well-established and shaped by distinct endocrine, anatomical and physiological mechanisms. Despite sustained advances, our understanding of how inherent biological factors drive variations in exercise capacity and related pathologies is still developing. This review examines data primarily from human trials on hormonal and other physiological determinants of sex differences in exercise performance. Higher testosterone in men leads to greater muscle mass, haemoglobin, bone size and cardiac output, explaining much of the performance gap between sexes. Female physiology confers advantages during prolonged submaximal exercise, including greater fat oxidation, lower carbohydrate dependence and improved fatigue resistance, which may help explain narrower gaps in ultra-endurance events. These differences translate into a persistent performance gap (around 10%–15%) in most sports, particularly those requiring strength and power, although the gap narrows as event duration increases. Sex differences also influence responses to training and risk of exercise-related pathology, including differences in stress responses, reproductive dysfunction (e.g., hypothalamic amenorrhoea), musculoskeletal injury and thermoregulation. These insights inform specific approaches in sports medicine and clinical endocrinology, emphasising the importance of sex as a fundamental biological variable in exercise physiology, sports performance and in clinical management of athletes and those in physically demanding jobs.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"105 2","pages":"151-162"},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70150","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147764421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metabolic Phenotype Predicts Biochemical Response to Inositol Supplementation in Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis","authors":"Daniele Tienforti,&nbsp;Gennaro Puocci,&nbsp;Claudia Venditti,&nbsp;Valentina Gizzi,&nbsp;Carlo Pisanò,&nbsp;Elisa Cocci,&nbsp;Elisabetta Perfetto,&nbsp;Francesco D'Alessandro,&nbsp;Luca Spagnolo,&nbsp;Marco Giorgio Baroni,&nbsp;Arcangelo Barbonetti","doi":"10.1111/cen.70140","DOIUrl":"10.1111/cen.70140","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To evaluate the effect of inositol supplementation on biochemical hyperandrogenism in women with polycystic ovary syndrome (PCOS) and to explore whether metabolic phenotype modifies the endocrine response.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>Systematic review and meta-analysis of randomized controlled trials conducted in accordance with PRISMA guidelines.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients</h3>\u0000 \u0000 <p>Women diagnosed with PCOS according to established criteria (NIH, Rotterdam, or AE-PCOS). Nine eligible trials comprising a total of 440 participants were included.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Measurements</h3>\u0000 \u0000 <p>Primary outcomes were serum total testosterone (TT), calculated free testosterone (cFT), free androgen index (FAI), and sex hormone–binding globulin (SHBG). Prespecified subgroup analyses explored differences according to body mass index (BMI) and insulin resistance (HOMA-IR).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Inositol supplementation was associated with significant reductions in TT (SMD –1.30; 95% CI –2.17 to –0.42), cFT, and FAI, together with an increase in SHBG. Substantial heterogeneity was observed for several outcomes. In subgroup analyses, the largest and most consistent reduction in TT was observed among normal-weight women (BMI &lt; 25 kg/m²) (SMD –2.97; 95% CI –3.78 to –2.16), with minimal heterogeneity (<i>I</i>² = 9%). No significant improvements were detected in overweight or obese women, nor in women with insulin resistance when considered independently of BMI. These subgroup findings should be interpreted as exploratory.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Inositol supplementation is associated with improvements in biochemical hyperandrogenism in women with PCOS, with evidence of phenotype-dependent variability. The most consistent biochemical response was observed in normal-weight individuals. These findings support a metabolically informed, hypothesis-generating framework and highlight the need for adequately powered, phenotype-stratified trials incorporating clinically meaningful outcomes, including standardized measures of hirsutism, ovulatory function, and patient-reported endpoints.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"105 2","pages":"237-244"},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70140","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147632436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pituitary Magnetic Resonance Imaging as a Prognostic Factor of Pituitary Insufficiency—The Follow-Up Analysis of a Cohort of Children With Pituitary Stalk Interruption Syndrome","authors":"Joanna Chrzanowska,&nbsp;Jagoda Jacków-Nowicka,&nbsp;Aleksandra Bodetko,&nbsp;Wojciech Szlasa,&nbsp;Monika Seifert,&nbsp;Agnieszka Zubkiewicz-Kucharska,&nbsp;Robert Śmigiel,&nbsp;Joanna Bladowska","doi":"10.1111/cen.70129","DOIUrl":"10.1111/cen.70129","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Patients diagnosed with pituitary stalk interruption syndrome (PSIS) exhibit heterogeneous endocrinological and radiological presentations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim of this study was to assess the correlation between MRI features in children with PSIS and their pituitary hormonal profile, and answer the question whether pituitary MRI can serve as a prognostic factor of pituitary insufficiency.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design and Patients</h3>\u0000 \u0000 <p>The study included 50 children diagnosed with PSIS. Hormonal data were collected at the first and most recent visits; with a median follow-up of 5.9 years. Data collected before 2016 were retrospective; thereafter, prospective.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>At initial diagnosis, 32 patients (64%) presented with isolated pituitary hormone deficiencies. During follow-up, 15 of them (47%) developed additional deficits, increasing the prevalence of combined pituitary hormone deficiency (CPHD) from 16 (32%) to 31 patients (62%). In the remaining 17 patients (34%), only the initial isolated growth hormone deficiency (GHD) diagnosis persisted. Progression to CPHD occurred in 87.5% of patients with stalk agenesis compared to 33.3% with stalk hypoplasia (<i>p</i> = 0.013). All cases of arginine vasopressin deficiency (AVPD) were observed exclusively in patients with the absence of the posterior pituitary (Fisher's exact test, <i>p</i> &lt; 0.000001; odds ratio = 0, with 95% CI: 0–0.04). Furthermore, the presence of optic nerve hypoplasia (ONH) was strongly associated with the development of CPHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Children with PSIS require repeated reassessment of pituitary function if CPHD is not present at the initial evaluation, as progression to complete pituitary insufficiency may occur over time. The absence of the pituitary stalk may serve as a sensitive marker of CPHD, whereas the absence of the posterior pituitary appears to predispose patients to AVPD. Additionally, the coexistence of ONH and PSIS may be associated with greater severity of anterior pituitary hormonal dysfunction. Patients who do not develop CPHD typically present with growth failure as the main manifestation, along with pituitary stalk hypoplasia and partial GHD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"105 2","pages":"231-236"},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147472661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Apparent Bilateral Aldosterone Suppression During Adrenal Vein Sampling: An Artefact of the Liaison Chemiluminescence Immunoassay and Other Causes Revealed by Comparisons With Another Commercial Immunoassay and Mass Spectrometry","authors":"Christina Pamporaki,&nbsp;Carmina T. Fuss,&nbsp;Ralph Kickuth,&nbsp;Lydia Kürzinger,&nbsp;Mirko Peitzsch,&nbsp;Sybille Fuld,&nbsp;Manuel Schulze,&nbsp;Jun Yang,&nbsp;Martin Reincke,&nbsp;Sven Gruber,&nbsp;Felix Beuschlein,&nbsp;Jacques W. M. Lenders,&nbsp;Graeme Eisenhofer","doi":"10.1111/cen.70135","DOIUrl":"10.1111/cen.70135","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Subtyping of primary aldosteronism usually requires adrenal vein sampling (AVS). Interpretation can be compromised by apparent bilateral aldosterone suppression (ABAS), which we hypothesised reflects an artefact of the Liaison immunoassay of aldosterone. We therefore compared measurements of aldosterone by liquid chromatography-tandem mass spectrometry (LC-MS/MS) with those by Liaison and iSYS immunoassays.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>Observational multicentre study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients</h3>\u0000 \u0000 <p>The study involved 216 patients who underwent bilaterally selective non-stimulated AVS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Measurements</h3>\u0000 \u0000 <p>Adrenal and peripheral venous plasma aldosterone concentrations were measured by Liaison and iSYS immunoassays in 110 and 106 respective samplings compared to LC-MS/MS in all. Ratios of aldosterone-to-cortisol below 1.0 in adrenal versus peripheral vein samples defined relative aldosterone suppression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among all AVS procedures, 9.7% (21/216) of samplings with immunoassay measurements showed ABAS, threefold more (<i>p</i> = 0.0004) than the 3.2% (7/216) with LC-MS/MS. Rates of ABAS were particularly high with the Liaison immunoassay compared to LC-MS/MS (14.5% vs. 0.9%, <i>p</i> &lt; 0.0001) and remained higher after substitution of immunoassay-measured with LC-MS/MS-measured cortisol (10.9% vs. 0.9%, <i>p</i> = 0.0007). Among 106 procedures involving iSYS immunoassay measurements, rates of ABAS at 4.7% were a third (<i>p</i> = 0.0202) those of the Liaison immunoassay and did not differ from LC-MS/MS measurements (5.7%). ABAS confined to LC-MS/MS measurements in one patient was resolved by a second sampling that revealed pronounced aldosterone secretion versus earlier suppression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>ABAS is a relatively common artefact of the Liaison immunoassay of aldosterone. More rarely, ABAS may reflect sampling blood from an adrenal venous tributary that does not drain from the site of excess aldosterone secretion.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"105 2","pages":"175-184"},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70135","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147572580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Procalcitonin Doubling Time for Postoperative Monitoring of Medullary Thyroid Carcinoma: A Comparative Kinetic Analysis","authors":"Alfredo Campenni,&nbsp;Petra Petranović Ovčariček,&nbsp;Alberto Posabella,&nbsp;Rosaria M. Ruggeri,&nbsp;Luca Giovanella","doi":"10.1111/cen.70147","DOIUrl":"10.1111/cen.70147","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Calcitonin doubling time (CT-DT) is an established prognostic tool in medullary thyroid carcinoma (MTC), yet CT measurement can be affected by analytical variability and assay interference. Procalcitonin (PCT) has shown promise as a complementary biomarker, but data on PCT doubling time (PCT-DT) remain scarce.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Longitudinal CT and PCT were measured using Elecsys immunoassays in 25 MTC patients followed for up to 24 months after thyroidectomy. Doubling times were estimated using log-linear regression and a rolling-window approach. Agreement was assessed using Spearman correlation, Bland–Altman analysis, and Cohen's κ across predefined DT categories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>CT and PCT kinetics showed clear separation across response categories. In progressive disease, CT-DT and PCT-DT were strongly correlated with minimal systematic bias and substantial categorical agreement (<i>κ</i> = 0.76). Short DT values clustered in structural incomplete responders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>PCT-DT closely mirrors CT-DT and may serve as a complementary kinetic marker in the postoperative monitoring of MTC, particularly when CT interpretation is uncertain; however, these findings should be considered exploratory and warrant confirmation in larger prospective cohorts before clinical implementation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"105 2","pages":"252-258"},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147764424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bardet−Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single-Centre Cohort","authors":"Deepak Thiriveedi,&nbsp;Manjunath Goroshi,&nbsp;Vanishri Ganakumar,&nbsp;Vikrant Ghatnatti","doi":"10.1111/cen.70117","DOIUrl":"10.1111/cen.70117","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Bardet−Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy with multisystem involvement. While <i>BBS1</i> mutations are common globally, population-specific genetic patterns and phenotype severity vary. This study aimed to investigate genotype−phenotype correlations in an Indian cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this single-centre, observational cohort study, individuals meeting Beales' clinical criteria for BBS underwent next-generation sequencing (NGS). Phenotypic features were correlated with underlying genotypes, with particular attention to the type of mutation (truncating vs. non-truncating) and the implicated gene subgroup (chaperonin-like vs. BBSome complex).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 15 patients screened, nine were confirmed to have BBS. The most frequently mutated genes were <i>BBS10</i> and <i>BBS2</i> (33.3% each), followed by <i>BBS9</i> and <i>BBS12</i>. All variants were homozygous, with truncating mutations observed in 77.8% of cases. Obesity was universally present, while retinal dystrophy and polydactyly were each seen in 88.9% of patients. Renal abnormalities were less frequent (22.2%) and were observed only among patients with truncating variants in this cohort. Compared with non-truncating mutations, truncating variants were associated with earlier diagnosis (median age: 14 vs. 28.5 years), possibly reflecting earlier clinical manifestations. Notably, earlier onset of disease and broader multisystem involvement were more frequently observed in patients with <i>BBS10</i> mutations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study provides descriptive insights into the genotypic spectrum of BBS in an Indian cohort, with frequent involvement of BBS10 and BBS2. The findings underscore the importance of population-specific genetic data and highlight the potential value of early genetic evaluation in consanguineous families.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"105 2","pages":"205-212"},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147324856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin D Supplementation to Prevent Post-Thyroidectomy Hypocalcemia","authors":"Jeresa I. A. Willems,&nbsp;Daan J. L. van Twist,&nbsp;Kristy M. Pickwell,&nbsp;Patrick L. H. van Battum,&nbsp;Rutgert Bianchi,&nbsp;Annette M. Pijnenburg,&nbsp;James van Bastelaar,&nbsp;Marco Medici,&nbsp;Robin P. Peeters,&nbsp;Roderick F.A. Tummers-de Lind van Wijngaarden","doi":"10.1111/cen.70152","DOIUrl":"10.1111/cen.70152","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Hypocalcemia is the most common complication following thyroidectomy. Previous studies yielded inconsistent results on whether vitamin D₃ prevents postoperative hypocalcemia and were conducted in non-European countries with different dietary habits and baseline vitamin D levels. Therefore, we explored the effect of preoperative vitamin D₃ on post-thyroidectomy hypocalcemia in a Dutch cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patients undergoing thyroidectomy between 2023 and 2025 received 100,000 IU vitamin D₃ 1 week before surgery (“vitamin D group”) and were compared to a historical cohort (2019–2022) without vitamin D₃ supplementation (“control group”). Outcomes included incidence of hypocalcemia (albumin-adjusted calcium &lt; 2.00 mmol/L), need for postoperative supplementation, time until normocalcemia, length of hospital stay, and readmissions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifty patients received preoperative vitamin D₃ and were compared to 154 controls (82.8% female, median age: 55 years [IQR: 43–66]). Vitamin D₃ supplementation was associated with a reduced risk of biochemical hypocalcemia at all postoperative time points (OR 0.28, 95% CI: 0.11–0.68, <i>p</i> = 0.005), corresponding to a number needed to treat of five patients to prevent one case of hypocalcemia. As compared to controls, the need for postoperative supplementation and time to recover from hypocalcemia were lower in the vitamin D group (32.0% vs. 53.9%, <i>p</i> = 0.007; and 0 [0–2] vs. 3 [0–11] days, <i>p</i> = 0.002, respectively). No differences were observed in length of hospital stay or readmissions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Although larger randomized trials are needed to confirm these observations, preoperative vitamin D₃ was associated with a significant reduction in post-thyroidectomy hypocalcemia in this observational cohort study. Given its low costs, this intervention may be considered for routine implementation in thyroidectomy patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"105 2","pages":"259-266"},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70152","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147764418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Relationship Between Polycystic Ovary Syndrome (PCOS) and Depression","authors":"Asimina I. Karampela,&nbsp;Maralyn Druce","doi":"10.1111/cen.70124","DOIUrl":"10.1111/cen.70124","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder, frequently accompanied by psychological comorbidities including depression. The aim of this narrative review is to summarise the latest research regarding potential contributors to and underpinning mechanisms of this relationship.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>A detailed search of the PubMed database was carried out beginning with systematic reviews and using the ‘snowballing’ method to identify further studies. The results yielded were assessed for quality using the GRADE framework. Depression in all studies was assessed using validated questionnaires.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The association of PCOS and depression is bidirectional and multifactorial. The role of biological factors such as hyperandrogenism, metabolic dysregulation, chronic low-grade inflammation, gut microbiome, and genetic and epigenetic factors are highlighted. Also, psychosocial contributors includingillness perception (obesity, acne and hirsutism), menstruation, infertility issues, and sexual dysfunction, as well as eating disorders have a prevalent role. The majority of the studies included were systematic reviews and cross-sectional original research studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Given the complex pathophysiology underpinning both diseases independently as well as in combination, despite evolving research, there is no single unifying link. However, this highlights the need for mental health risk stratification, addressing possible contributing factors, and offering the support required for patients with PCOS and depression.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"105 2","pages":"131-140"},"PeriodicalIF":2.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.70124","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147462704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}