Clinical Endocrinology最新文献_第5页

Resting Cerebrovascular Haemodynamics and Dynamic Assessment of Cerebrovascular Function in Polycystic Ovary Syndrome 多囊卵巢综合征静息脑血管血流动力学及脑血管功能动态评价。

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology

Pub Date : 2025-11-25 DOI: 10.1111/cen.70061

Cory T. Richards, Thomas D. Griffiths, Zoe H. Adams, Melissa E. Wright, Saajan Davies, Jack S. Talbot, Lauren Broad-Thomas, Diego García Esteban, Jessica J. Steventon, Patrice Brassard, Kevin Murphy, Philip E. James, D. Aled Rees, Rachel N. Lord

Objective

Despite an increased cerebrovascular disease risk, the impact of Polycystic Ovary Syndrome (PCOS) on cerebrovascular haemodynamics and function is unknown. This study characterised cerebrovascular haemodynamics and function in women with PCOS versus healthy controls.

Design

Case-control study.

Patients

Fifteen women with PCOS (age: 31 ± 6 years; body mass index (BMI): 31.8 ± 5.7 kg/m²) and 16 controls (age: 30 ± 7 years; BMI: 29.9 ± 5.5 kg/m²).

Measurements

Resting global cerebral blood (CBF) was assessed by 3T MRI. Middle- and posterior cerebral artery blood velocities (MCAv, PCAv) were measured by Doppler ultrasound and pulsatility index (MCA_PI, PCA_PI) calculated. Neurovascular coupling (NVC), internal carotid artery cerebrovascular reactivity (CVR_CO2) and dynamic cerebral autoregulation (dCA) directional sensitivity were assessed using a visual stimulus, 6% fixed-inspired CO₂ and repeated squat-stand manoeuvres, respectively.

Results

Resting CBF (PCOS: 57.2 ± 7.5 ml/100 g/min; controls: 61.6 ± 11.6 ml/100 g/min, p = 0.25) and MCAv, PCAv, MCA_PI and PCA_PI (all p > 0.05) were similar between groups. NVC (14 ± 4.9% vs. 13 ± 3.4%, p = 0.45), CVR_CO2 (5.1 ± 1.9% vs. 6.5 ± 2.9%, p = 0.20) and dCA directional sensitivity were similar between groups. However, women with PCOS had elevated relative PCA_PI during NVC (PCOS: 12.0 ± 5.6% vs. controls: 7.0 ± 3.8%, p = 0.04), and impaired vasodilation of the internal carotid artery during CVR_CO2 (PCOS: −0.10 ± 0.22 mm vs. controls: 0.18 ± 0.24 mm, p < 0.01).

Conclusions

Cerebrovascular function is largely preserved in women with PCOS, although elevated arterial pulsatility and impaired vasodilatory response to carbon dioxide may indicate early endothelial dysfunction in the cerebral vasculature. Larger studies are needed to confirm this in view of our limited study power.

目的：尽管多囊卵巢综合征（PCOS）增加了脑血管疾病的风险，但对脑血管血流动力学和功能的影响尚不清楚。本研究对多囊卵巢综合征女性与健康对照者的脑血管血流动力学和功能进行了表征。设计：病例对照研究。患者：PCOS女性15例（年龄：31±6岁，体重指数（BMI）： 31.8±5.7 kg/m2），对照组16例（年龄：30±7岁，BMI: 29.9±5.5 kg/m2）。测量方法：采用3T MRI评估静息全脑血（CBF）。采用多普勒超声测量大脑中、后动脉血流速度（MCAv, PCAv），计算脉搏指数（MCAPI， PCAPI）。神经血管耦合（NVC）、颈内动脉脑血管反应性（CVRCO2）和动态大脑自动调节（dCA）方向敏感性分别通过视觉刺激、6%固定激励CO2和重复蹲立动作进行评估。结果：静息CBF （PCOS: 57.2±7.5 ml/100 g/min；对照组：61.6±11.6 ml/100 g/min, p = 0.25）、MCAv、PCAv、MCAPI、PCAPI组间差异无统计学意义（p < 0.05）。NVC（14±4.9% vs. 13±3.4%,p = 0.45）、CVRCO2（5.1±1.9% vs. 6.5±2.9%,p = 0.20）和dCA方向敏感性组间比较相似。然而，PCOS女性在NVC期间的相对PCAPI升高（PCOS: 12.0±5.6%，对照组：7.0±3.8%,p = 0.04），并且在CVRCO2期间内颈动脉血管舒张受损（PCOS: -0.10±0.22 mm，对照组：0.18±0.24 mm, p）结论：PCOS女性的脑血管功能在很大程度上保留，尽管动脉脉搏率升高和血管对二氧化碳的舒张反应受损可能表明早期脑血管内皮功能障碍。鉴于我们有限的研究能力，需要更大规模的研究来证实这一点。

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引用次数: 0

Incidental Pituitary FDG Uptake on PET-CT: A Retrospective Review of Current Practice and Outcomes at a UK Tertiary Centre. PET-CT上偶然垂体FDG摄取：英国高等教育中心当前实践和结果的回顾性回顾。

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology

Pub Date : 2025-11-24 DOI: 10.1111/cen.70060

Trevor Tam, Thin Kyi Phyu Naing, Lee Elzubeir, Francesca Swords, Ketan Dhatariya, Ramona-Rita Barbara, Rupa Ahluwalia

Context: Fluorine-18 fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET-CT) is widely used in malignancy diagnosis and surveillance. However, benign conditions also increase avidity. Distinguishing between benign and pathological uptake is critical. Rising PET-CT utilisation has led to increased detection of incidental pituitary FDG uptake. Referral pathways and secondary imaging remain inconsistent, and no UK guidelines exist. This study aims to review our current practice and assess the potential role of SUVmax to differentiate physiological from pathological uptake in the pituitary gland.

Design: A retrospective single-centre cohort study was conducted at a UK tertiary hospital.

Patients: Among 15824 PET-CT scans between 01/01/2017-30/06/2024, 70 patients (mean age 72.1 ± 1.3 years, 25.7% female) were included.

Measurements: Demographics, primary pathology, oncological treatment, SUVmax on initial PET-CT, secondary imaging findings, endocrine referral, and pituitary biochemistry were collected.

Results: 48 patients (68.6%) underwent secondary imaging; 70.8% (n = 34) were normal. Pathological findings included macroadenomas (n = 6), microadenomas (n = 3), and other lesions (n = 5). Mean SUVmax was significantly higher in patients with pituitary pathology (pituitary adenomas- 20.62 ± 4.82; all pathology- 16.74 ± 3.80) versus normal imaging- 4.66 ± 0.26 (p < 0.001). A SUVmax threshold of 4.75 yielded 100% sensitivity and 53.9% specificity for detecting pituitary pathology (ROC curve; 95% CI: 69%-100%).

Conclusions: Our review highlights significant variation in referral patterns for secondary imaging and to the Endocrine department. We suggest potential use of SUVmax threshold to distinguish physiological from pathological pituitary FDG uptake. Further validation in larger cohorts is warranted before routine clinical application.

背景：氟-18氟脱氧葡萄糖（FDG）正电子发射断层扫描-计算机断层扫描（PET-CT）广泛应用于恶性肿瘤的诊断和监测。然而，良性条件也会增加贪婪。区分良性摄取和病理性摄取至关重要。PET-CT应用的增加导致垂体偶发FDG摄取的检测增加。转诊途径和二次成像仍然不一致，没有英国指南存在。本研究旨在回顾我们目前的实践，并评估SUVmax在区分垂体生理性和病理性摄取方面的潜在作用。设计：在英国某三级医院进行回顾性单中心队列研究。患者：2017年1月1日至2024年6月30日15824例PET-CT扫描，70例患者（平均年龄72.1±1.3岁，女性25.7%）。测量：收集人口统计学、原发病理、肿瘤治疗、初始PET-CT的SUVmax、二次成像结果、内分泌转诊和垂体生化。结果：48例（68.6%）患者接受了二次显像；70.8% （n = 34）正常。病理结果包括大腺瘤（n = 6）、微腺瘤（n = 3）和其他病变（n = 5）。垂体病理患者（垂体腺瘤- 20.62±4.82；所有病理- 16.74±3.80）的平均SUVmax明显高于正常影像学患者- 4.66±0.26 (p)。结论：我们的综述强调了二次影像学和内分泌科转诊模式的显著差异。我们建议使用SUVmax阈值来区分生理性和病理性垂体FDG摄取。在常规临床应用之前，需要在更大的队列中进一步验证。

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引用次数: 0

Endocrine Functions of Bone Are Suppressed by Orally Administered Glucose Regardless of Bodyweight 无论体重如何，口服葡萄糖可抑制骨内分泌功能。

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology

Pub Date : 2025-11-24 DOI: 10.1111/cen.70059

Niki Jalava, Terhi J. Heino, Pirjo Nuutila, Kirsi A. Virtanen, Kaisa K. Ivaska

Objective

Bone is a target for diabetic complications, but the impact of metabolic changes on bone metabolism is less understood. Bones participate in energy metabolism by via secreted osteokines. Glucose ingestion reduces bone resorption, but the effects on osteokines remain unknown. Further, it is not known whether the response is altered in obesity. The objective of the study was to compare responses in circulating levels of osteokines to glucose ingestion between participants with normal weight (BMI < 26 kg/m², n = 22) and obesity (BMI > 28 kg/m², n = 27) (age = 21–54 yr).

Measurements

C-terminal telopeptide of collagen I (b-CTX-I), total osteocalcin (OC), sclerostin, fibroblast growth-factor 23 (cFGF23), uncarboxylated OC, and lipocalin 2 (LCN2) at baseline and after 2 h oral glucose tolerance test (OGTT).

Results

OGTT resulted in a significant decrease in bone resorption, median decrease in b-CTX-I was 42% (p < 0.0001) in both groups. Osteokine levels were modestly but statistically significantly decreased, OC decreased by 11% (p < 0.0001) and FGF23 by 14% (p = 0.007) in both groups, while uncarboxylated OC decreased by 1.2% (p < 0.0001) and sclerostin by 7.8% (p = 0.032) only in participants with obesity. Although the differences in responses between the groups were not statistically significant, we observed a tendency for less pronounced effect on b-CTX-I (p = 0.052) and a greater effect on OC (p = 0.051) in participants with obesity compared to normal weight.

Conclusion

Osteokines respond rapidly to oral glucose regardless of body weight. Orally-administered glucose affects not only bone turnover but can also suppress bone endocrine functions. Furthermore, obesity may influence the effect of oral glucose on circulating levels of bone turnover markers.

目的：骨是糖尿病并发症的靶点，但代谢变化对骨代谢的影响尚不清楚。骨骼通过分泌骨因子参与能量代谢。葡萄糖摄入减少骨吸收，但对骨因子的影响尚不清楚。此外，目前尚不清楚肥胖是否会改变这种反应。该研究的目的是比较正常体重（BMI 2, n = 22）和肥胖（BMI > 28 kg/m2, n = 27）参与者（年龄= 21-54岁）体内骨因子循环水平对葡萄糖摄入的反应。测量：基线和2小时口服葡萄糖耐量试验（OGTT）后，I型胶原c端末端肽（b-CTX-I）、总骨钙素（OC）、硬化蛋白、成纤维细胞生长因子23 （cFGF23）、未羧化OC和脂钙素2 （LCN2）。结果：OGTT导致骨吸收显著下降，b-CTX-I中位下降42% (p)结论：骨因子对口服葡萄糖反应迅速，与体重无关。口服葡萄糖不仅影响骨转换，还能抑制骨内分泌功能。此外，肥胖可能影响口服葡萄糖对骨转换标志物循环水平的影响。

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引用次数: 0

Short-Term, Low-Dose Spironolactone for Treatment of Hyperandrogenic Symptoms of Polycystic Ovary Syndrome—A Systematic Review 短期、低剂量螺内酯治疗多囊卵巢综合征高雄激素症状的系统评价

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology

Pub Date : 2025-11-24 DOI: 10.1111/cen.70062

Telma Martins Viveiros, Neha Deshpande, Irene Karderinis, Yangxinrui Ma, Sophie Clarke, Vikram Talaulikar, Bassel Wattar

Objective

Polycystic ovary syndrome (PCOS) is a common condition, that manifests as menstrual irregularities, subfertility, or symptoms of hyperandrogenism – including hirsutism, adult acne, and alopecia. Current pharmacological treatment of the hyperandrogenic symptoms includes the combined oral contraceptive pill. However, there are multiple contraindications and side-effects, which limit their use. Anti-androgens, such as spironolactone, are commonly prescribed off-label but its efficacy in PCOS is uncertain. This review aims to evaluate the efficacy and safety of spironolactone, when compared to other nonhormonal medications in the management of PCOS hyperandrogenic symptoms.

Methods

Comprehensive literature searches were conducted across MEDLINE, EMBASES, PUBMED and SCOPUS. RCTs published in English assessing the use of spironolactone for hyperandrogenism in PCOS were included. The quality of papers was assessed using Cochrane RoB 2.0 tool. Meta-analysis was conducted using a random-effects model, reporting as standardised mean differences and 95% confidence intervals.

Results

Of 3378 studies identified, five open-label RCTs met the inclusion criteria, three of which were included in the meta-analysis. Spironolactone, monotherapy or combination with metformin, showed no statistically significant difference in reducing Ferriman-Gallwey scores, total testosterone levels or BMI compared to metformin monotherapy. Side effects of spironolactone included menstrual irregularities, polyuria, and gastrointestinal symptoms.

Conclusion

Current evidence does not show any significant difference in the use of spironolactone when compared to metformin. Given its widespread use and limited safety concerns, spironolactone remains an off-label option, especially for those unable to take hormonal contraceptives. However, larger, better quality studies are needed to establish its efficacy in PCOS management.

目的：多囊卵巢综合征（PCOS）是一种常见的疾病，表现为月经不规律、生育能力低下或雄激素分泌过多的症状——包括多毛症、成人痤疮和脱发。目前高雄激素症状的药物治疗包括联合口服避孕药。然而，有多种禁忌症和副作用，限制了它们的使用。抗雄激素，如螺内酯，通常在标签外开处方，但其对多囊卵巢综合征的疗效尚不确定。本综述旨在评价螺内酯与其他非激素药物在治疗多囊卵巢综合征高雄激素症状方面的疗效和安全性。方法：通过MEDLINE、embase、PUBMED、SCOPUS进行综合文献检索。纳入了英文发表的评价螺内酯治疗多囊卵巢综合征高雄激素症的随机对照试验。采用Cochrane RoB 2.0工具评价论文质量。采用随机效应模型进行meta分析，报告标准化平均差异和95%置信区间。结果：在确定的3378项研究中，5项开放标签随机对照试验符合纳入标准，其中3项纳入meta分析。与二甲双胍单药治疗相比，螺内酯单药治疗或与二甲双胍联合治疗在降低Ferriman-Gallwey评分、总睾酮水平或BMI方面没有统计学上的显著差异。螺内酯的副作用包括月经不规律、多尿和胃肠道症状。结论：目前的证据表明，与二甲双胍相比，螺内酯的使用没有任何显著差异。鉴于其广泛使用和有限的安全问题，螺内酯仍然是标签外的选择，特别是对于那些无法服用激素避孕药的人。然而，需要更大规模、更高质量的研究来确定其在多囊卵巢综合征治疗中的疗效。

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引用次数: 0

The Use of Routine Laboratory 17-Hydroxyprogesterone for Identification of Cases of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia 应用常规实验室17-羟孕酮鉴别21-羟化酶缺乏性先天性肾上腺增生。

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology

Pub Date : 2025-11-21 DOI: 10.1111/cen.70058

Joseph McElvaney, Salma R. Ali, Amy R. Frank, Sophie Longmuir, Jane McNeilly, Malika Alimussina, Ruth McGowan, Syed Faisal Ahmed

Background

Clinical outcome studies of 21-hydroxylase deficiency congenital adrenal hyperplasia (21OHD CAH) may be subject to selection bias due to incomplete case ascertainment. This study aimed to develop a methodology for identifying existing CAH cases and explore its utility to study clinical outcomes.

Methods

17-hydroxyprogesterone assays (17OHP) processed in NHS Greater Glasgow and Clyde between 2014 and 2022 were analysed based on 17OHP result (≥ 6 or < 6nmol/L), location, test frequency and clinical details. Identified cases were cross-referenced against local clinical data logs. For confirmed cases, current age, sex, age at diagnosis, mortality status, most recent blood pressure (BP) and anthropometry were collected.

Results

Assay results from 57,011 cases were extracted and, of these, 116 (F:M, 81:35) had confirmed CAH but 66 (57%) were not reported by any local clinical data logs. The median age at the time of the study was 33 years (range, 2, 75) and 95 (82%) were over 16 years (F:M, 69:26). In these adults, 52 (55%) were diagnosed in childhood (i.e. ≤ 16 years) and only 1 male was diagnosed in adulthood. The median body mass index (BMI) standard deviation score of children was 0.70 (−2.43, 3.15). Median BMI of adults was 28 (15, 56) and median adult and paediatric systolic BP was 120 mmHg (95, 153) and 106 mmHg (83, 130), respectively.

Conclusion

The 17OHP-based algorithm that was used in this study represents a useful method for identifying existing cases of CAH and can allow improved understanding of routinely collected markers of clinical outcome.

背景：21-羟化酶缺乏性先天性肾上腺增生症（21OHD CAH）的临床结果研究可能因病例不完全确定而存在选择偏倚。本研究旨在发展一种识别现有CAH病例的方法，并探索其在研究临床结果中的效用。方法：根据2014年至2022年在大格拉斯哥和克莱德NHS处理的17-羟基孕酮测定（17OHP）结果（≥6）或结果：提取57,011例的测定结果，其中116例（F:M, 81:35）确诊CAH，但66例（57%）未在任何当地临床数据日志中报告。研究时的中位年龄为33岁（范围2,75），95名（82%）超过16岁（F:M, 69:26）。在这些成年人中，52人（55%）在儿童期（即≤16岁）被诊断，只有1名男性在成年期被诊断。儿童体重指数（BMI）标准差中位数为0.70（-2.43,3.15）。成人BMI中位数为28(15,56)，成人和儿童收缩压中位数分别为120 mmHg（95,153）和106 mmHg（83,130）。结论：本研究中使用的基于17ohp的算法代表了一种识别现有CAH病例的有用方法，并且可以提高对常规收集的临床结果标记物的理解。

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引用次数: 0

Exploring Brain Parenchymal Changes in Acromegaly: Focus on White Matter Hyperintensities 探讨肢端肥大症的脑实质改变：以白质高信号为重点。

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology

Pub Date : 2025-11-20 DOI: 10.1111/cen.70057

Denise Costa, Giada Giuliani, Valentina Martines, Chiara Pellicano, Valeria Mercuri, Vittorio Di Piero, Patrizia Gargiulo, Camilla Virili

Introduction

Acromegaly is a rare chronic disease caused by excessive secretion of growth hormone. Even with biochemical control, hormonal imbalance may lead to cerebral changes. This study aimed to evaluate the presence of white matter hyperintensities (WMHs) in patients with acromegaly.

Materials and Methods

We retrospectively enrolled 37 acromegaly patients who underwent gadolinium-enhanced brain MRI to detect WMHs and their distribution. We analysed potential contributing factors such as cardiovascular comorbidities, migraine, inflammatory markers (plasma interleukin-33), and hand skin perfusion using laser speckle contrast analysis.

Results

WMHs were found in 24 patients (64.9%), with nine showing a higher lesion burden. Patients with WMHs were older [63 years (IQR 47.5–67.5) versus 48 years (IQR 44–53), p = 0.023] and had a longer disease duration [19 years (IQR 11.5–26.5) versus 13 years (IQR 12–15), p = 0.028] than those without WMHs. Hypertension (22/37) and migraine (18/37) were the most common comorbidities. A higher WMH burden was significantly associated with hypertension (p = 0.05), while no significant link was found between WMHs and migraine (p > 0.05).

Conclusion

Several factors in acromegaly may affect brain structure, promoting WMH development, such as aging, disease duration, and hypertension. Therefore, in patients with acromegaly, we suggested the early management of cardiovascular comorbidities and regular radiological follow-up, not limited to the study of the pituitary gland. Future prospective studies are necessary to confirm our preliminary observations and to clarify the potential role of disease activity and treatment in WMH development.

肢端肥大症是一种罕见的由生长激素分泌过多引起的慢性疾病。即使有生化控制，荷尔蒙失衡也可能导致大脑的变化。本研究旨在评估肢端肥大症患者白质高信号（WMHs）的存在。材料和方法：我们回顾性地招募了37例肢端肥大症患者，他们接受了钆增强脑MRI检查wmh及其分布。我们分析了潜在的影响因素，如心血管合并症、偏头痛、炎症标志物（血浆白细胞介素-33）和手部皮肤灌注使用激光散斑对比分析。结果：24例（64.9%）患者出现WMHs，其中9例病变负担加重。wmh患者比无wmh患者年龄大[63岁（IQR 47.5-67.5）比48岁（IQR 44-53）， p = 0.023]，病程长[19年（IQR 11.5-26.5）比13年（IQR 12-15）， p = 0.028]。高血压（22/37）和偏头痛（18/37）是最常见的合并症。较高的WMH负担与高血压显著相关（p = 0.05），而WMH与偏头痛之间无显著联系（p = 0.05）。结论：肢端肥大症患者的衰老、病程、高血压等因素可能影响脑结构，促进肢端肥大症的发展。因此，对于肢端肥大症患者，我们建议早期处理心血管合并症并定期进行影像学随访，而不局限于脑垂体的研究。未来的前瞻性研究需要证实我们的初步观察结果，并澄清疾病活动和治疗在WMH发展中的潜在作用。

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引用次数: 0

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches 混合性性腺发育不良：临床谱、诊断策略和管理方法的综合综述。

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology

Pub Date : 2025-11-09 DOI: 10.1111/cen.70053

Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park

Background

Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata. Some of the challenges in the clinical management of patients with MGD include gonadal malignancy risk, decisions on gonadectomy, fertility and sex of rearing. The management is predominantly multidisciplinary with a focus on patient and family centred care.

Methods

This article was prepared as a narrative review based on a comprehensive search of the literature. A systematic search of the PubMed, Embase, Scopus, and Google Scholar databases was performed using the key terms “mixed gonadal dysgenesis,” “45,X/46,XY mosaicism,” “differences in sex development,” and “gonadal tumour risk” to identify relevant articles published between 2000 and 2024. References from the identified papers were further screened to capture additional relevant literature. We gathered the findings to provide an updated overview of MGD, focusing on epidemiology, clinical manifestations, diagnostic evaluation, malignancy risk, approaches to management, psychosocial considerations, and evolving strategies in the long-term care of patients with MGD.

Results

MGD accounts for 5%–15% of cases of atypical genitalia and carries a 15%–25% risk of gonadal tumour, with the highest malignancy rates in intra-abdominal gonads. Approximately 12%–15% of patients with MGD may experience gender incongruence later in life. Management has shifted from early surgical intervention to a multidisciplinary, patient-centred, and shared decision making approach.

Conclusions

The future care of patients with MGD is likely to include biomarker-driven surveillance, along with advanced fertility preservation techniques. Long-term outcome data for patients with MGD along with patient-reported outcomes, are limited in the literature, underscoring the need for further research.

背景：混合性性腺发育不良（MGD）是一种罕见的性发育差异（DSD），通常与45、X/46、XY嵌合有关。MGD的表型表现不同，从非典型生殖器到典型的男性或女性外观，通常与特纳柱头有关。MGD患者临床管理中的一些挑战包括性腺恶性肿瘤风险、性腺切除术的决定、生育能力和饲养性别。管理主要是多学科的重点是病人和家庭为中心的护理。方法：在全面查阅文献的基础上，撰写一篇叙述性综述。系统检索PubMed、Embase、Scopus和谷歌Scholar数据库，检索关键词为“混合性性腺发育不良”、“45、X/46、XY嵌合”、“性发育差异”和“性腺肿瘤风险”，以确定2000年至2024年间发表的相关文章。进一步筛选已确定论文中的参考文献，以获取更多相关文献。我们收集了这些发现，以提供最新的MGD概述，重点关注MGD的流行病学，临床表现，诊断评估，恶性肿瘤风险，管理方法，心理社会因素以及MGD患者长期护理的演变策略。结果：MGD占非典型生殖器病例的5%-15%，性腺肿瘤的风险为15%-25%，其中腹内性腺的恶性发生率最高。大约12%-15%的MGD患者在以后的生活中可能会出现性别不一致。管理已从早期手术干预转向多学科、以患者为中心和共同决策的方法。结论：MGD患者的未来护理可能包括生物标志物驱动的监测，以及先进的生育能力保存技术。MGD患者的长期结果数据以及患者报告的结果在文献中是有限的，这强调了进一步研究的必要性。

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引用次数: 0

Efficacy and Tolerability of Metyrapone in Mild Autonomous Cortisol Secretion: Real-World Findings From Clinical Practice 美替拉酮对轻度自主皮质醇分泌的疗效和耐受性：来自临床实践的真实世界发现。

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology

Pub Date : 2025-11-06 DOI: 10.1111/cen.70056

Simon Berry, Ahmed Iqbal, John Newell-Price, Miguel Debono

Objective

Mild autonomous cortisol secretion (MACS) is associated with increased cardiometabolic risk factors including hypertension, type 2 diabetes and dyslipidaemia. By using evening doses of metyrapone, a short-acting 11-β hydroxylase inhibitor, it has been shown that it is possible to reset the abnormal circadian cortisol rhythm in MACS. This study aimed to evaluate the tolerability and impact of this approach on cardiometabolic outcomes in patients with MACS.

Design

We conducted a single-centre retrospective, longitudinal review of patients with MACS who received evening metyrapone (250–500 mg at 6 PM and 250 mg at 10 PM) to evaluate adverse events, tolerability, and cardiometabolic outcomes (systolic and diastolic blood pressure, HbA1c, weight and non-HDL cholesterol) at 6 months, compared to controls. Age and sex-matched controls were identified from patients with adrenal incidentalomas and non-suppressed serum cortisol following 1 mg overnight dexamethasone suppression testing.

Results

Fifteen patients and 15 matched controls were identified. Over 6 months there were no adrenal crises. Metyrapone was stopped in 2/15 patients in view of side effects. In the metyrapone group compared to controls, there were significant decreases in systolic blood pressure (−17.7 (SE 5.8) vs. +8.7 (5.7)mmHg, p = 0.008, n = 9) and diastolic blood pressure (−9.9 (4.2) vs. +3.0 (3.6)mmHg, p = 0.024). The differences between groups for HbA1c, weight and non-HDL cholesterol were not statistically significant.

Conclusion

Evening metyrapone was associated with significant reductions in systolic and diastolic blood pressure in patients with MACS, without causing adrenal insufficiency, indicating its potential safe clinical utility. A well-powered, controlled, prospective study is needed to validate these findings and comprehensively investigate the broader metabolic outcomes.

目的：轻度自主皮质醇分泌（MACS）与高血压、2型糖尿病和血脂异常等心脏代谢危险因素的增加有关。通过使用夜间剂量的短效11-β羟化酶抑制剂metyrapone，已经证明有可能重置MACS中异常的昼夜皮质醇节律。本研究旨在评估这种方法对MACS患者心脏代谢结局的耐受性和影响。设计：我们对晚间接受美替拉酮（下午6点250-500毫克，晚上10点250毫克）治疗的MACS患者进行了单中心回顾性纵向评价，以评估6个月时与对照组相比的不良事件、耐受性和心脏代谢结局（收缩压和舒张压、HbA1c、体重和非高密度脂蛋白胆固醇）。从肾上腺偶发瘤患者和在1 mg地塞米松抑制试验后未抑制的血清皮质醇中确定年龄和性别匹配的对照。结果：确定了15例患者和15例匹配对照。超过6个月没有出现肾上腺危机。考虑到副作用，2/15的患者停用了Metyrapone。与对照组相比，美吡酮组患者收缩压(-17.7 （SE 5.8) vs. +8.7 (5.7)mmHg, p = 0.008, n = 9）和舒张压(-9.9 （4.2)vs. +3.0 (3.6)mmHg, p = 0.024）显著降低。各组间HbA1c、体重、非高密度脂蛋白胆固醇差异无统计学意义。结论：夜用美替拉酮可显著降低MACS患者的收缩压和舒张压，且不会引起肾上腺功能不全，提示其潜在的安全临床应用。需要一个强有力的、可控的、前瞻性的研究来验证这些发现，并全面调查更广泛的代谢结果。

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引用次数: 0

Benign Adrenal Adenomas Are Associated With Reduced Prevalence of Hospitalised Patients With COVID-19 良性肾上腺腺瘤与COVID-19住院患者患病率降低相关

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology

Pub Date : 2025-11-06 DOI: 10.1111/cen.70055

Alan Kelsall, Chris Johns, Eleanor Hills, Jenny Zhao, John Newell-Price

Introduction

Adrenal incidentalomas (AI) are commonly found on imaging done for indications other than to assess the adrenal glands. Prevalence increases with age and is around 10% in people over 80 years. The majority of AIs are benign adenomas, with 20%−50% exhibiting mild autonomous cortisol secretion (MACS). Clinical guidelines recommend the use of dexamethasone to improve outcomes in patients with COVID-19 requiring oxygen.

Hypothesis

Benign adrenal adenomas protect against severe COVID-19.

Methods

Reports for all computed tomography pulmonary angiogram (CTPA) scans at Sheffield Teaching Hospitals between 11 March 2020 and 10 November 2021 were assessed for details of AI. Scan requests mandated recording COVID-19 status. Patients with a positive COVID-19 test within 2 weeks before the CTPA were classed as COVID-19 positive for the analyses. Duplicate scans were removed.

Results

A total of 4307 CTPA scans were included. The median age was 65 (IQR 49−77) and the majority of patients were female (55.0%). Seventy-six (1.76%) patients had a benign adenoma. COVID-19 positivity was found in 897 (20.8%). The presence of a benign adenoma was associated with a 70% reduced odds of being COVID-19 positive (aOR 0.30, 95% CI 0.12−0.74, p = 0.01), adjusting for age and sex.

Conclusion

Prevalence of adrenal adenoma was associated with significantly reduced odds of being SARS-CoV2 positive in an inpatient cohort. Secretion of mild excess cortisol (MACS) may be protective against developing severe COVID-19.

简介：肾上腺偶发瘤（AI）通常是在影像学上发现的适应症，而不是评估肾上腺。患病率随着年龄增长而增加，在80岁以上人群中约为10%。大多数AIs为良性腺瘤，20%-50%表现为轻度自主皮质醇分泌（MACS）。临床指南建议使用地塞米松来改善需要吸氧的COVID-19患者的预后。假设：良性肾上腺腺瘤可预防严重的COVID-19。方法：评估2020年3月11日至2021年11月10日谢菲尔德教学医院所有计算机断层扫描肺血管造影（CTPA）扫描报告的AI细节。扫描请求强制记录COVID-19状态。在CTPA前2周内COVID-19检测阳性的患者被归类为COVID-19阳性。已删除重复扫描。结果：共纳入4307张CTPA扫描。中位年龄65岁（IQR 49 ~ 77），以女性为主（55.0%）。76例（1.76%）患者为良性腺瘤。新冠病毒阳性897例（20.8%）。在调整年龄和性别后，良性腺瘤的存在与COVID-19阳性的几率降低70%相关（aOR 0.30, 95% CI 0.12-0.74, p = 0.01）。结论：在住院患者队列中，肾上腺腺瘤的患病率与SARS-CoV2阳性的几率显著降低相关。轻度过量皮质醇（MACS）的分泌可能对发展成严重的COVID-19有保护作用。

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引用次数: 0

Surgical Outcomes Following Neoadjuvant-Targeted Therapy for Advanced Differentiated Thyroid Cancer—Real-World Data 新辅助靶向治疗晚期分化性甲状腺癌的手术效果

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology

Pub Date : 2025-11-05 DOI: 10.1111/cen.70054

Alexandra Dorman, Genady Shendler, Anton Warshavsky, Nidal Muhanna, Gilad Horowitz, Liyona Kampel Furman, Shahaf Shilo, Ben-Zion Joshua, Eran Alon, Eric Remer, Galit Avior, Avi Khafif, Orit Gutfeld, Elena Izkhakov, Jobran Mansour, Inbar Finkel

Background

Differentiated thyroid carcinoma (DTC) is typically managed surgically with favourable outcomes. However, surgery may have dire consequences when the tumour invades critical structures. Neoadjuvant therapy with tyrosine kinase inhibitors (TKIs) has emerged as a potential strategy to improve resectability and reduce morbidity in advanced DTC. We evaluated the efficacy and safety of neoadjuvant TKI therapy in patients with advanced or unresectable DTC.

Methods

A retrospective study was conducted on patients with advanced DTC treated with neoadjuvant TKIs (lenvatinib or dabrafenib/trametinib) followed by curative intent surgery between 2023 and 2025. Data on disease extent, genetic alterations, treatment regimens, and adverse effects were collected. Radiologic response was assessed by CT or PET-CT according to the RECIST 1.1 criteria. Surgical outcomes were evaluated by the degree of morbidity and by tumour involvement in the surgical margins.

Results

Nine patients were included, seven treated with lenvatinib, two treated with dabrafenib/trametinib on the basis of molecular alterations. The median duration of TKI therapy was 5 months, and no disease progression was observed throughout. Radiological assessment revealed a median reduction in tumour burden of 23.53%, contributing to improved tumour resectability. All patients underwent surgical resection with preservation of critical structures. Elevated TSH levels during neoadjuvant therapy was correlated with a positive treatment response (p = 0.028).

Conclusions

Neoadjuvant TKIs may improve the surgical outcomes of patients with advanced DTC. Decision-guided radiological and blood-based surrogate biomarkers, such as TSH, can assist in evaluating treatment response and guide decisions regarding treatment duration and extent of surgical resection.

背景：分化型甲状腺癌（DTC）通常采用手术治疗，预后良好。然而，当肿瘤侵入关键结构时，手术可能会产生可怕的后果。酪氨酸激酶抑制剂（TKIs）的新辅助治疗已成为改善晚期DTC可切除性和降低发病率的潜在策略。我们评估了晚期或不可切除的DTC患者新辅助TKI治疗的有效性和安全性。方法：回顾性研究2023年至2025年期间接受新辅助TKIs （lenvatinib或dabrafenib/trametinib）治疗并进行治愈性手术的晚期DTC患者。收集了疾病程度、基因改变、治疗方案和不良反应的数据。根据RECIST 1.1标准通过CT或PET-CT评估放射学反应。手术结果是通过发病率和肿瘤在手术边缘的受累程度来评估的。结果：纳入9例患者，7例采用lenvatinib治疗，2例基于分子改变采用dabrafenib/trametinib治疗。TKI治疗的中位持续时间为5个月，整个过程中未观察到疾病进展。放射学评估显示肿瘤负荷中位数减少23.53%，有助于提高肿瘤的可切除性。所有患者均行手术切除，保留了关键结构。新辅助治疗期间TSH水平升高与治疗反应呈正相关（p = 0.028）。结论：新辅助TKIs可改善晚期DTC患者的手术效果。决策指导放射学和基于血液的替代生物标志物，如TSH，可以帮助评估治疗反应并指导有关治疗时间和手术切除程度的决策。

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引用次数: 0