Clinical Endocrinology最新文献

{"title":"Clinical Significance of Skeletal Fat-to-Muscle Ratio in Idiopathic Hyperaldosteronism","authors":"Yuhe Jiang,&nbsp;Dan Li,&nbsp;Cassie Chen Cao,&nbsp;Wenjing Feng,&nbsp;Ruidong Liu,&nbsp;Yinfei Xu,&nbsp;Caixia Cao","doi":"10.1111/cen.15274","DOIUrl":"10.1111/cen.15274","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The objective of this study is to evaluate the correlation between the fat-to-muscle ratio (FMR) and insulin resistance (IR) with aldosterone production among patients with idiopathic hyperaldosteronism (IHA).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patients with primary aldosteronism were screened from those with secondary hypertension and then subtyped via adrenal venous sampling. A total of 199 patients with IHA and 186 with essential hypertension (EH) (controls) were studied. Baseline clinical characteristics, including data on diabetes and IHA, were collected. The FMR was evaluated based on the distribution of adipose tissue and muscle, measured by a body composition analyzer.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The prevalence of diabetes and prediabetes was significantly higher in patients with IHA compared to those with essential hypertension. IHA patients also had significantly higher hemoglobin A1c(HbA1c) levels, homeostatic model assessment of insulin resistance (HOMA-IR), and much lower quantitative insulin sensitivity check index scores than the EH group. FMR was positively associated with fasting insulin, HOMA-IR, aldosterone-to-renin ratio (ARR), and age. A higher FMR was linked to the prevalence of IHA, with a stepwise increase in risk observed from the lowest to the highest quartiles of FMR. Logistic regression analysis showed that both HOMA-IR and body mass index contributed to the elevated FMR. IHA may result from a substantial loss of muscle mass accompanied by fat accumulation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>In this retrospective study, our findings suggest that FMR could serve as a valuable metric for early intervention and comanagement strategies in patients at risk of sarcopenic obesity. This approach could help block the progression from aldosterone-producing cell clusters to IHA, potentially inhibiting aldosterone overproduction in such patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 4","pages":"429-435"},"PeriodicalIF":2.4,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15274","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101454","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 Utility of Plasma Metanephrines to Optimise Adrenal Vein Sampling for Primary Aldosteronism: A Single Centre Experience","authors":"Zin Htut,&nbsp;Ali Alsafi,&nbsp;Aditi Sharma,&nbsp;Daniel Foran,&nbsp;Tricia Tan,&nbsp;Sophie C. Barnes,&nbsp;Emma L. Williams,&nbsp;Debbie Papadopoulou,&nbsp;Aimee Dimarco,&nbsp;Fausto Palazzo,&nbsp;Jeannie Todd,&nbsp;Rami Fikri,&nbsp;John Wass,&nbsp;Karim Meeran,&nbsp;Florian Wernig","doi":"10.1111/cen.15277","DOIUrl":"10.1111/cen.15277","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Primary aldosteronism (PA) is a prevalent yet frequently underdiagnosed cause of secondary hypertension, affecting up to 10% of hypertensive individuals and contributing to increased cardiovascular risk. Accurate diagnosis is vital, as unilateral PA cases typically require surgical intervention, while bilateral disease is managed medically. Adrenal vein sampling (AVS) remains the gold standard for diagnosing subtypes of PA; however, the use of cortisol to confirm accuracy of cannulation poses challenges due to its long half-life and potential cortisol co-secretion by aldosterone-producing adenomas.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study evaluates the diagnostic utility of plasma metanephrines (MN) as an alternative to cortisol in assessing cannulation success and lateralisation of aldosterone secretion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Analysing 132 unstimulated AVS procedures performed by a single operator on 129 patients with confirmed PA, we established optimal cut-off values for the selectivity index (SI) and lateralisation index (LI) using MN.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A MN SI cut-off of &gt;3 achieved 99% sensitivity and 100% specificity, while an aldosterone/MN LI of &gt;4 indicated unilateral disease with 94% sensitivity and 96% specificity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our findings demonstrate that incorporating MN measurements significantly enhances the accuracy of AVS interpretations, particularly in cases of cortisol co-secretion, thereby minimising diagnostic errors and optimising treatment strategies. This study supports the use of MN as reliable analytes to improve the diagnostic accuracy of AVS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 3","pages":"294-302"},"PeriodicalIF":2.4,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15277","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093026","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":"Idiopathic Infantile Hypercalcaemia—Genetic, Biochemical and Clinical Outcomes in a Small Cohort","authors":"Lisa A. Amato,&nbsp;Kristen A. Neville,&nbsp;Roderick Clifton-Bligh,&nbsp;Jan L. Walker","doi":"10.1111/cen.15273","DOIUrl":"10.1111/cen.15273","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Context</h3>\u0000 \u0000 <p>Idiopathic Infantile Hypercalcaemia (IIH) is rare; thus data on investigation, treatment and outcome are limited. Monogenic causes have been implicated in some cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To report on the biochemical profile and response to treatment of infants with IIH and yield of testing for variants in genes involved in calcium sensing and vitamin D metabolism (CASR, AP2S1, GNA11, CYP24A1).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients and Measurements</h3>\u0000 \u0000 <p>Retrospective analysis of the clinical records and biochemistry of 14 infants with IIH, diagnosed between March 2011 and March 2014, with genetic testing in nine infants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Median [range] age at presentation was 17 days [5–53]. Median calcium concentration was 2.92 mmol/L [2.79–4.03]. PTH was suppressed or inappropriately normal (median 0.85pmol/L; [0.3–3.1]) with high or normal urinary calcium:creatinine (median 3.3 mmol/mmol; [0.4–7.9]). 25OHD was normal or low (median 48 nmol/L; [17–218]). Serum calcium dropped in all treated with low calcium formula with subsequent elevated PTH (median 8.2 pmol/L) in 9/14 associated with low 25OHD (median 33 nmol/L) despite serum calcium concentration in the upper part of the reference interval (median 2.67 mmol/L). No pathogenic genetic variants were identified but 7/9 patients had common non-pathogenic variants, and in 5 there was more than 1.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>IIH occurred at a younger age than typically reported. Biochemical findings were suggestive of variations in calcium sensing and/or vitamin D metabolism; however, only common, non-pathogenic genetic variants were identified. Prolonged use of low calcium feeds should be monitored closely with PTH measurements due to the potentially deleterious effect on bone health.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 2","pages":"193-200"},"PeriodicalIF":3.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093018","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":"Switching Patients With Congenital Adrenal Hyperplasia to Modified-Release Hydrocortisone Capsules: Relative Bioavailability and Disease Control","authors":"Richard John M. Ross,&nbsp;Wiebke Arlt,&nbsp;Aude Brac de la Perriere,&nbsp;Angelica Lindén Hirschberg,&nbsp;Anders Juul,&nbsp;Deborah P. Merke,&nbsp;John D. C. Newell-Price,&nbsp;Alessandro Prete,&nbsp;D. Aled Rees,&nbsp;Nicole Reisch,&nbsp;Monica Stikkelbroeck,&nbsp;Philippe A. Touraine,&nbsp;Kerry Maltby,&nbsp;Jo Quirke,&nbsp;Helen Coope,&nbsp;John Porter","doi":"10.1111/cen.15275","DOIUrl":"10.1111/cen.15275","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Replacement therapy with modified-release hydrocortisone capsules (MRHC) restores the physiological circadian cortisol rhythm in congenital adrenal hyperplasia (CAH).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>To determine the relative bioavailability of MRHC and evaluate an optimal protocol to switch CAH patients from standard therapy to MRHC.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>(1): Crossover study in healthy participants comparing relative bioavailability of MRHC with immediate-release hydrocortisone (IRHC). (2): Post hoc analysis of first 4 weeks of phase 3 MRHC study when CAH patients were switched to MRHC.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Twenty-four healthy male participants completed the relative bioavailability study: 20 mg MRHC showed comparable bioavailability to 20 mg IRHC tablets; mean AUC_0−inf was 2650 versus 2450 h*nmol/L, ratio of 108% (90% confidence interval (CI) 103%−113%). In the phase 3 study, 122 CAH patients were recruited of which 63 patients were managed with IRHC alone at baseline; 31 of 63 were randomised to continue IRHC and 32 of 63 were randomised to switch to MRHC on the same daily dose but given twice daily. At 4 weeks, a greater reduction in both the 09:00 h 17-hydroxyprogesterone and androstenedione was observed in the MRHC group compared to the IRHC group; <i>p</i> &lt; 0.001 and <i>p</i> = 0.01, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>MRHC showed comparable bioavailability to IRHC based on cortisol AUC after 20 mg administration. Switching patients treated with IRHC to a twice daily MRHC regimen on the same daily dose (giving approximately two thirds of the dose at night) is an effective protocol for starting MRHC treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 3","pages":"290-293"},"PeriodicalIF":2.4,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15275","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076419","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":"Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women","authors":"Yasir S. Elhassan,&nbsp;James M. Hawley,&nbsp;Leanne Cussen,&nbsp;Ali Abbara,&nbsp;Sophie A. Clarke,&nbsp;Punith Kempegowda,&nbsp;Rima K. Dhillon-Smith,&nbsp;Puja Thadani,&nbsp;Maureen Busby,&nbsp;Lucy Owusu-Darkwah,&nbsp;Rachel Marrington,&nbsp;W. Colin Duncan,&nbsp;Robert K. Semple,&nbsp;Richard Quinton,&nbsp;Michael W. O'Reilly","doi":"10.1111/cen.15265","DOIUrl":"10.1111/cen.15265","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Context</h3>\u0000 \u0000 <p>Androgen excess is common in women and refers to clinical or biochemical evidence of elevated androgenic steroids such as testosterone. It is associated with underlying polycystic ovary syndrome in the majority of cases. However severe androgen excess is less common and may indicate the presence of underlying adrenal or ovarian neoplasms, genetic disorders or severe insulin resistance syndromes. Currently there are few consensus guidelines to assist clinicians with a standardised management approach to the patient with severe androgen excess.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>Clinical practice guideline.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This guideline has been developed with expertise from colleagues in endocrinology, gynaecology, clinical biochemistry and nursing, and furthermore provides a unique patient perspective to guide clinicians.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The Society for Endocrinology commissioned this new guideline to collate multi-disciplinary guidance for clinical practitioners in the investigation of severe androgen excess. Recommendations have been made in the areas of clinical assessment, biochemical work up, dynamic testing and imaging, informed where possible by the best available evidence.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This guideline will provide guidance for clinicians in their approach to patients with severe androgen excess.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 4","pages":"540-566"},"PeriodicalIF":2.4,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15265","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975432","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 Effect of Preoperative Biochemical Parameters on the Development of Hungry Bone Syndrome After Surgery for Primary Hyperparathyroidism","authors":"Mahsa Hadi,&nbsp;Asieh Mansouri,&nbsp;Sarah Seyedyousefi,&nbsp;Rezvan Salehidoost","doi":"10.1111/cen.15268","DOIUrl":"10.1111/cen.15268","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hungry bone syndrome (HBS) characterised by prolonged hypocalcemia, occurs commonly following parathyroidectomy in patients with primary hyperparathyroidism (PHPT). Although this complication is common, research in this field is very scarce. This study aimed to determine the incidence, characteristics of patients with HBS, and the effect of preoperative biochemical parameters on HBS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this retrospective study we enroled 144 patients with PHPT who underwent successful parathyroidectomy from January 2010 to January 2020. Preoperative and postoperative laboratory parameters were assessed. Logistic regression analysis was used to identify factors affecting the incidence of HBS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>One hundred six patients (73.6%) were women and the female-to-male ratio was 2.8−1. The median (IQR) age of all patients was 54 (19) years. HBS developed in 25 (17.36%) patients (5 men and 20 women, <i>p</i> = 0.425). Total calcium and parathyroid hormone preoperatively were significantly higher in patients with HBS, while serum phosphorus and magnesium levels did not differ statistically between the two groups. The resected parathyroid gland volume was higher in those with HBS compared to those without. Postoperatively, patients with HBS had longer hospital stays and lower serum phosphorus levels. However, these variables could not predict the occurrence of HBS after surgery in the performed regression model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The patients with HBS had higher levels of calcium and parathyroid hormone preoperatively, along with larger resected parathyroid glands. Nevertheless, preoperative parameters were unable to predict HBS. Therefore, biochemical monitoring after surgery seems necessary to detect HBS and protect patients from severe hypocalcemia.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 3","pages":"311-316"},"PeriodicalIF":2.4,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983253","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":"Sex Hormones and Risk of Incident Dementia in Men and Postmenopausal Women","authors":"Yanqing Zhao,&nbsp;Qi Wang,&nbsp;Chunying Fu,&nbsp;Meiling Li,&nbsp;Wenting Hao,&nbsp;Xiaoyi Wang,&nbsp;Qixiang Song,&nbsp;Dongshan Zhu","doi":"10.1111/cen.15271","DOIUrl":"10.1111/cen.15271","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Dementia poses a major global public health challenge, with its risk varying by sex. Women were nearly twice as likely to have Alzheimer's and other forms of dementia compared to men. Although testosterone levels are believed to influence cognitive function in older adults, existing studies have reported inconsistent findings, leaving the relationship between sex hormones and dementia unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used data from UK Biobank. Serum total testosterone and sex hormone binding globulin (SHBG) were measured by immunoassay. Serum free testosterone was calculated using vermeulen method. The incident dementia and Alzheimer's disease (AD) was recorded from hospital inpatient data. Cox proportional hazards regression was conducted to assess the association between sex hormones and dementia, adjusted for age and other variables. Restricted cubic spline models were employed to quantify dose–response relationships.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Result</h3>\u0000 \u0000 <p>A total of 186,296 men (mean age: 56.68 years, SD: 8.18) and 126,109 postmenopausal women (mean age: 59.73 years, SD: 5.78) were included. After 12.0 (IQR: 11.0−13.0)-year follow-up, 3874 (2.08%) male participants and 2523 (2.00%) female participants developed dementia. Men in the highest quintile of free testosterone levels had a reduced risk of all-cause dementia (HR: 0.63, 95%CI: 0.56−0.71) and AD (0.49, 0.60−0.72) compared to those in the lowest quintile. Conversely, men in the highest quintile of SHBG levels had an increased risk of all-cause dementia (1.47, 1.32−1.64) and AD (1.32, 1.11−1.58) compared to those in the lowest quintile. Among postmenopausal women, those in the fourth quintile of free testosterone levels exhibited a lower risk of all-cause dementia (0.84, 0.78−0.95) and AD (0.76, 0.63−0.91). Higher SHBG was linked to an increased incidence of all-cause dementia (1.35, 1.28−1.55) and AD (1.52, 1.25−1.85) in menopausal women.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our findings revealed that higher SHBG and lower free testosterone concentrations seem to be associated with higher incidence of all-cause dementia and AD and further studies must be done to determine causality.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 3","pages":"366-375"},"PeriodicalIF":2.4,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986033","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":"Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α-Hydroxylase/17,20-Lyase Deficiency: A Retro-Prospective Study of a Large Patient Cohort","authors":"Rafaela Fontenele,&nbsp;Flávia A. Costa-Barbosa,&nbsp;Marivânia Costa-Santos,&nbsp;Rafael L. Batista,&nbsp;Lívia M. Mermejo,&nbsp;Berenice B. Mendonça,&nbsp;Margaret de Castro,&nbsp;Gil Guerra-Júnior,&nbsp;Claudio E. Kater,&nbsp;Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group (BCAHMSG)","doi":"10.1111/cen.15261","DOIUrl":"10.1111/cen.15261","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Worldwide, combined 17-hydroxylase/17,20-lyase deficiency (CYP17D) is a rare form of congenital adrenal hyperplasia, but it is the second most prevalent type in Brazil. An absence of sexual differentiation and hypergonadotropic hypogonadism arise from a reduction in the usual pattern of sex steroid formation in the adrenals and the gonads, and virtually all affected individuals are phenotypically female, regardless of karyotype. The absence of sex steroids precludes bone maturation, allowing an extended growth phase, such that nontreated adult patients usually have a tall eunuchoid appearance. Mineralocorticoid hypertension is an associated feature.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To describe the clinical aspects of growth development, bone maturation, and body proportions of a large cohort of Brazilian patients with CYP17D.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients and Methods</h3>\u0000 \u0000 <p>The study involved an analysis of the records of 88 patients with CYP17D who were treated at the Federal University of São Paulo Medical School and other Endocrine Reference Centres in Brazil.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>At diagnosis, the median chronological age and bone age of non-adult patients were 15.8 years (range: 10–20 years; <i>n</i> = 41) and 11 years (7.5–15 years; <i>n</i> = 25), respectively. A delay of ≥ 2 years in bone age was present in 92.5% of cases. In 30 patients, the height and its <i>Z</i>-score were 157 cm (130–171.5 cm) and −0.4 (−3.0 to +1.6), respectively. The span-to-height ratio was high and consistent over time. Final heights were available for 51 patients, of which 77% (25 XY, 14 XX) were in the 50th percentile or higher, and 39% (14 XY, 6 XX) were in the 90th percentile or higher. Only 8% (1 XY, 3 XX) were in the 25th percentile or lower. Of the 42 patients with data available, 11 (26%) had lower <i>Z-</i>scores during childhood and adolescence, and it is plausible that they missed a growth spurt.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In this large CYP17D cohort, we verified that the prolonged hypoestrogenism that led to delayed or absent puberty was associated with decreased bone age, lower stature in childhood and adolescence, missed growth spurts, an extended growth phase, and greater final heights with frequent eunuchoid appearance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 3","pages":"303-310"},"PeriodicalIF":2.4,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15261","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143977389","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":"High-Density Lipoprotein Cholesterol Levels and the Risk of Acromegaly: A Nationwide Cohort Study","authors":"Eun Roh,&nbsp;Ji Hye Heo,&nbsp;Han Na Jung,&nbsp;Kyung-Do Han,&nbsp;Jun Goo Kang,&nbsp;Seong Jin Lee,&nbsp;Sung-Hee Ihm","doi":"10.1111/cen.15264","DOIUrl":"10.1111/cen.15264","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Large-scale population-based data on the association between low high-density lipoprotein cholesterol (HDL-C) levels and the development of acromegaly are lacking. We aimed to investigate the association between different HDL-C levels and incident acromegaly.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>Retrospective Cohort study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients and Measurements</h3>\u0000 \u0000 <p>Using data from the National Health Insurance Services in Korea, we enroled adults without pre-existing acromegaly, who participated in the national health screening in 2009, were enroled and followed up until 2019. Participants were classified based on baseline HDL-C levels. Low HDL-C level was defined as HDL-C value &lt; 40 mg/dL for men or &lt; 50 mg/dL for women. The risk of acromegaly was also examined according to HDL-C levels in 10 mg/dL intervals.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among a total 9,876,423 adults without acromegaly, 459 (4.6 cases per 100,000 people) participants developed acromegaly during the median follow-up period of 9.2 years. The risk of acromegaly was significantly higher in patients with low HDL-C (HR 1.45, 95% CI 1.19–1.78) compared to normal HDL-C group after adjusting for potential confounding variables, including total cholesterol levels and the use of lipid-lowering medication. Furthermore, when HDL-C levels were categorised into four groups at 10 mg/dL intervals, a dose-dependent association with acromegaly risk was observed, with the highest risk found in the low HDL-C group (grade 4, HR 1.78, 95% CI 1.30–2.43).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Low HDL-C levels were independently associated with an increased risk of acromegaly.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 2","pages":"225-233"},"PeriodicalIF":3.0,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143961934","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":"The Role of Late-Night Salivary Cortisol in the Assessment of Endocrine Remission in Patients With Cushing's Disease After Pituitary Radiotherapy","authors":"Ukasha Habib,&nbsp;Helen A. Shih,&nbsp;Beverly M. K. Biller,&nbsp;Nicholas A. Tritos","doi":"10.1111/cen.15270","DOIUrl":"10.1111/cen.15270","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Context</h3>\u0000 \u0000 <p>Pituitary radiotherapy (RT) is used for persistent/recurrent Cushing's disease (CD) after pituitary surgery. The utility of late-night salivary cortisol (LNSC) in evaluating endocrine remission after RT is unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To identify the clinical characteristics and outcomes of patients with CD after RT, in endocrine remission based on normal LNSC (group 1) or 24 h urinary free cortisol (UFC; group 2).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design and Setting</h3>\u0000 \u0000 <p>Retrospective cohort, observational study in academic medical centre. Patients (16−86 years old, <i>n</i> = 75) with CD who underwent RT were studied; group 1 (<i>n</i> = 16), group 2 (<i>n</i> = 18), and 41 patients not in remission. Outcome measures included within-group and between-group changes (group 1 vs. group 2) in clinical characteristics, endocrine data and time to remission.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Seventy-five patients with CD, aged (median [range]: 50 years [16, 86], 71% female, BMI: 34.7 kg/m² [19.1, 62.5], 63% with macroadenomas) underwent RT and 34 (45.3%) entered endocrine remission, including 16 (21.3%) in group 1 and 18 (24%) in group 2 (median: 56 months). From RT to remission, there were decreases in BMI (group 1: −3.9 ± 0.7 kg/m², <i>p</i> = 0.0001; group 2: −5.2 ± 1.9 kg/m², <i>p</i> = 0.0123) and systolic blood pressure (group 1: −7.9 ± 3.9 mmHg, <i>p</i> = 0.03; group 2: −10.1 ± 4.5 mmHg (<i>p</i> = 0.008). There were no between-group differences in BMI, blood pressure, HbA1c, number of antihypertensive or antihyperglycemic agents, UFC, median time to remission, recurrence risk.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In patients with CD following RT, LNSC appears to be clinically equivalent to UFC in the assessment of endocrine remission. These patients can be followed with LNSC, which is easier for patients to collect.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":"103 3","pages":"351-358"},"PeriodicalIF":2.4,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984137","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}