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Diagnostic Nomogram Model for ACR TI-RADS 4 Nodules Based on Clinical, Biochemical Data and Sonographic Patterns. 基于临床、生化数据和声像图模式的 ACR TI-RADS 4 结节诊断提名图模型。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-16 DOI: 10.1111/cen.15130
Yongheng Wang, Yao Tang, Ziyu Luo, Jianhui Li, Wenhan Li

Objectives: The objective of this study was to develop and validate a nomogram model integrating clinical, biochemical and ultrasound features to predict the malignancy rates of Thyroid Imaging Reporting and Data System 4 (TR4) thyroid nodules.

Methods: A total of 1557 cases with confirmed pathological diagnoses via fine-needle aspiration (FNA) were retrospectively included. Univariate and multivariate logistic regression analyses were conducted to identify independent predictors of malignancy. These predictors were incorporated into the nomogram model, and its predictive performance was evaluated using receiver-operating characteristic curve (AUC), calibration plots, net reclassification improvement (NRI), integrated discrimination improvement (IDI) and decision curve analysis (DCA).

Results: Eight out of 22 variables-age, margin, extrathyroidal extension, halo, calcification, suspicious lymph node metastasis, aspect ratio and thyroid peroxidase antibody-were identified as independent predictors of malignancy. The calibration curve demonstrated excellent performance, and DCA indicated favourable clinical utility. Additionally, our nomogram exhibited superior predictive ability compared to the current American College of Radiology (ACR) score model, as indicated by higher AUC, NRI, IDI, negative likelihood ratio (NLR) and positive likelihood ratio (PLR) values.

Conclusions: The developed nomogram model effectively predicts the malignancy rate of TR4 thyroid nodules, demonstrating promising clinical applicability.

研究目的本研究旨在开发并验证一个综合临床、生化和超声特征的提名图模型,以预测甲状腺影像报告和数据系统4(TR4)甲状腺结节的恶性率:方法:回顾性纳入经细针穿刺(FNA)确诊的1557例病例。进行单变量和多变量逻辑回归分析,以确定恶性肿瘤的独立预测因素。将这些预测因素纳入提名图模型,并使用接收者工作特征曲线(AUC)、校准图、净再分类改进(NRI)、综合判别改进(IDI)和决策曲线分析(DCA)对其预测性能进行评估:22个变量中的8个--年龄、边缘、甲状腺外扩展、晕轮、钙化、可疑淋巴结转移、长宽比和甲状腺过氧化物酶抗体--被确定为恶性肿瘤的独立预测因子。校准曲线显示出卓越的性能,DCA 显示出良好的临床实用性。此外,与目前的美国放射学会(ACR)评分模型相比,我们的提名图显示出更高的预测能力,这体现在更高的AUC、NRI、IDI、阴性似然比(NLR)和阳性似然比(PLR)值上:结论:所开发的提名图模型能有效预测TR4甲状腺结节的恶性率,具有良好的临床应用前景。
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引用次数: 0
Evaluation of Serum Adipokine Levels in Girls With Central Precocious Puberty. 评估中枢性性早熟女孩的血清脂肪因子水平
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-16 DOI: 10.1111/cen.15132
Ilkin Seda Can Caglayan, Nurullah Çelik, Serkan Bolat

Purpose: Adipose tissue has an important endocrine function by secreting a variety of hormones known as adipokines, such as Visfatin, Omentin-1 and Chemerin. On the other hand, these hormones are also secreted from places other than fatty tissues in the girl's genital system. The goal of this study was to demonstrate the secretory status of adipokines in patients with central precocious puberty (CPP) and their utility in the diagnosis of precocious puberty.

Method: A total of 105 patients were included in the study (53 in the CPP group and 52 in the control group). The following were used as the CPP diagnostic criteria; breast development, basal LH measurement higher than 0.3 IU/L, peak LH level ≥ 5 IU/L, peak LH/FSH ratio ≥ 0.66 (after 0.1 mg GnRH stimulation test) and a difference of at least 1 year between bone and chronological age.

Results: A statistically significant difference was detected between the groups in serum Omentin-1 and Chemerin levels, and no significant differences were detected between the groups in Visfatin values. The cut-off values for the diagnosis of CPP were calculated as ≤ 48.9 with 81% sensitivity and 54% specificity for Omentin-1, and as ≥ 417 with 85% sensitivity and 60% specificity for Chemerin.

Conclusion: In our study, we found that Omentin-1 level decreased and Chemerin level increased in lean girls with CPP. More studies are needed to elucidate how adipokines play roles in explaining the onset of CPP, and whether they may be used as a reliable marker for the diagnosis of CPP.

目的:脂肪组织具有重要的内分泌功能,可分泌多种被称为脂肪因子的激素,如 Visfatin、Omentin-1 和 Chemerin。另一方面,这些激素也会从女孩生殖系统中脂肪组织以外的地方分泌出来。本研究的目的是证明中枢性性早熟(CPP)患者体内脂肪因子的分泌状况及其在诊断性早熟中的作用:研究共纳入 105 名患者(CPP 组 53 人,对照组 52 人)。CPP诊断标准如下:乳房发育、基础LH测量值高于0.3 IU/L、LH峰值≥5 IU/L、LH/FSH峰值比值≥0.66(0.1毫克GnRH刺激试验后)、骨龄与实际年龄相差至少1岁:各组间血清 Omentin-1 和 Chemerin 水平差异有统计学意义,各组间 Visfatin 值无明显差异。根据计算,诊断 CPP 的临界值为:Omentin-1 ≤ 48.9,灵敏度为 81%,特异度为 54%;Chemerin ≥ 417,灵敏度为 85%,特异度为 60%:在我们的研究中,我们发现在患有 CPP 的瘦女孩中,Omentin-1 水平降低,Chemerin 水平升高。还需要更多的研究来阐明脂肪因子在解释 CPP 发病中的作用,以及它们是否可用作诊断 CPP 的可靠标记物。
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引用次数: 0
Is Early Menopause a Different Entity From Premature Ovarian Insufficiency? 更年期提前与卵巢早衰是两个不同的实体吗?
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-16 DOI: 10.1111/cen.15136
Panagiotis Anagnostis, Irene Lambrinoudaki, Dimitrios G Goulis

Premature ovarian insufficiency (POI, defined as age at menopause < 40 years) affects 1%-3% of postmenopausal women. It is positively associated with an increased risk of diabetes mellitus, arterial hypertension, cardiovascular disease, osteoporosis, fractures, cognitive impairment, and depression. Early menopause (EM, defined as age at menopause < 45 years) is also associated with these adverse health consequences, in most cases to the same degree as in POI. Therefore, a unifying term for EM and POI, such as 'premature menopause', may be proposed, using the age threshold of < 45 years. This could provide broader coverage of these women, substantiating the need for prompt administration of menopausal hormone therapy (in this case, 'hormone replacement therapy'). However, the benefits of this approach, which precludes a higher oestrogen dose up to the normal age of menopause, need to be proven in well-designed randomized controlled trials.

卵巢早衰(POI,定义为绝经年龄
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引用次数: 0
Anti‐Obesity Medication in the Management of Children and Adolescents With Obesity: Recent Developments and Research Gaps 儿童和青少年肥胖症治疗中的抗肥胖药物:最新进展与研究空白
IF 3.2 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-11 DOI: 10.1111/cen.15133
Gabriel Torbahn, Julia Lischka, Tamara Brown, Louisa J. Ells, Aaron S. Kelly, Martin Wabitsch, Daniel Weghuber
BackgroundPaediatric obesity is a global public health concern. While in most countries the incidence keeps rising, the need for effective and long‐term management for children and adolescents living with this chronic, relapsing disease is pressing. Health behaviour and lifestyle treatment (HBLT) is recommended as first‐line treatment.MethodsNarrative review.ResultsA new generation of recently approved anti‐obesity medications (AOM) now has the potential to fill the gap between limited effects on body mass index (BMI) by HBLT alone and large effects by metabolic and bariatric surgery in adolescents with obesity aged 12 years and older. While, for semaglutide and phentermine/topiramate, effectiveness is substantial with relevant, but mostly mild to moderate adverse events, there is a gap in evidence regarding long‐term effects and safety, effects on outcomes beyond BMI reduction and data for certain groups of patients, such as children < 12 years and minority groups. When integrating AOM treatment into national healthcare systems it should be offered as part of a comprehensive patient‐centred approach.ConclusionThis article summarizes recent AOM developments, integration into paediatric obesity management, and identifies research gaps.
背景儿童肥胖症是一个全球性的公共卫生问题。在大多数国家,肥胖症的发病率不断上升,因此迫切需要对患有这种慢性、复发性疾病的儿童和青少年进行长期有效的治疗。方法叙述性综述结果最近获批的新一代抗肥胖药物(AOM)有可能填补12岁及以上肥胖症青少年中单用HBLT对体重指数(BMI)影响有限与代谢和减肥手术影响巨大之间的空白。虽然塞马鲁肽和芬特明/托吡酯的疗效显著,但也存在相关的轻度至中度不良反应,在长期疗效和安全性、对体重指数降低以外的结果的影响以及某些患者群体(如 12 岁儿童和少数民族群体)的数据等方面还存在证据缺口。在将AOM治疗纳入国家医疗保健系统时,应将其作为以患者为中心的综合方法的一部分。
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引用次数: 0
Long-Term Outcome of Low- and High-Dose Radioiodine for Thyroid Remnant Ablation 低剂量和高剂量放射性碘治疗甲状腺残留物消融术的长期疗效
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-09-04 DOI: 10.1111/cen.15134
Shiqi Liu, Shuqi Wu, Chao Ma, Shaoyan Wang, Suyun Chen, Hui Wang, Fang Feng

Objective

We conducted a prospective randomized clinical trial to compare the efficacy of low- and high-dose radioiodine for remnant ablation in patients with low-risk differentiated thyroid cancer (DTC) in China. The first-stage results showed equivalence was observed between the two groups. Here, we report recurrence and survival at 3–5 and 6–10 years and biochemical parameters.

Design, Patients and Methods

Between January 2013 and December 2014, adult patients with DTC were enroled. Patients had undergone total or near-total thyroidectomy, with or without cervical lymph node dissection, with tumour stages T1–T3 with or without lymph node metastasis, but without distant metastasis. Patients were randomly assigned to the low-dose (1850 MBq) or high-dose (3700 MBq) radioiodine group. They were then followed up for 3–5 and 6–10 years. Data on biochemical abnormalities, recurrence and survival were analysed using Kolmogorov–Smirnov and χ2 tests.

Results

The data of 228 patients (mean age = 42 years; 70.6% women) were analysed, with 117 patients in the low-dose group and 111 in the high-dose group. There were no significant differences in biochemical abnormalities, recurrence, or survival rates at the 6–10-year follow-up (all p > .05). Nine patients experienced recurrence in the low-dose group (8.7%), while eight patients experienced recurrence in the high-dose group (8.2%). The survival rates were 100% and 98.2% in the low- and high-dose groups, respectively.

Conclusions

The long-term effectiveness and safety of low-dose (1850 MBq) radioiodine are the same as those of high-dose (3700 MBq) radioiodine for thyroid remnant ablation in Chinese patients with low-risk DTC.

研究目的我们进行了一项前瞻性随机临床试验,比较低剂量和高剂量放射性碘对中国低危分化型甲状腺癌(DTC)患者残留消融的疗效。第一阶段结果显示,两组疗效相当。在此,我们报告了3-5年和6-10年的复发率和生存率以及生化指标:设计、患者和方法:2013年1月至2014年12月期间,DTC成年患者入组。患者均接受了甲状腺全切或近全切术,伴或不伴颈淋巴结清扫术,肿瘤分期为T1-T3,伴或不伴淋巴结转移,但无远处转移。患者被随机分配到低剂量(1850 MBq)或高剂量(3700 MBq)放射性碘组。然后对他们进行了 3-5 年和 6-10 年的随访。采用 Kolmogorov-Smirnov 和 χ2 检验对生化异常、复发和存活率数据进行了分析:分析了 228 名患者(平均年龄 42 岁,70.6% 为女性)的数据,其中低剂量组 117 人,高剂量组 111 人。在 6-10 年的随访中,生化异常、复发或存活率均无明显差异(P 均大于 0.05)。低剂量组有 9 名患者复发(8.7%),而高剂量组有 8 名患者复发(8.2%)。低剂量组和高剂量组的存活率分别为100%和98.2%:低剂量(1850 MBq)放射性碘与高剂量(3700 MBq)放射性碘用于中国低危DTC患者甲状腺残余消融的长期有效性和安全性相同。
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引用次数: 0
Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review 中国早发糖尿病患者 KCNJ11-MODY 的表型特征、患病率及文献综述。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-08-27 DOI: 10.1111/cen.15126
Tianhao Ba, Qian Ren, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Yingying Luo, Simin Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Xiuying Zhang, Jing Chen, Jing Wu, Xianghai Zhou, Yufeng Li, Xirui Wang, Fang Wang, Liyong Zhong, Xueyao Han, Linong Ji

Objective

Gain-of-function (GOF) variants of KCNJ11 cause neonate diabetes and maturity-onset diabetes of the young (KCNJ11-MODY), while loss-of-function (LOF) variants lead to hyperinsulinemia hypoglycemia and subsequent diabetes. Given the limited research of KCNJ11-MODY, we aimed to analyse its phenotypic features and prevalence in Chinese patients with early-onset type 2 diabetes (EOD).

Design, Patients and Measurements

We performed next-generation sequencing on 679 Chinese EOD patients to screen for KCNJ11 exons variants. Bioinformatics prediction and the American College of Medical Genetics and Genomics guidelines was used to determine the pathogenicity and diagnosed KCNJ11-MODY. A literature review was conducted to investigate the phenotypic features of KCNJ11-MODY.

Results

We identified six predicted deleterious rare variants in six EOD patients (0.88%). They were classified as uncertain significance (variant of uncertain significance [VUS]), but more common in this EOD cohort than a general Chinese population database, however, without significant difference (53/10,588, 0.50%) (p = .268). Among 80 previously reported patients with KCNJ11-MODY, 23.8% (19/80) carried 9 (32.1%) LOF variants, who had significantly older age at diagnosis, higher birthweight and higher fasting C-peptide compared to patients with GOF variants. Many patients carrying VUS were not correctly diagnosed.

Conclusions

Some rare variants of KCNJ11 might contribute to the development of Chinese EOD, although available evidence has not enough power to support them as cause of KCNJ11-MODY. The clinical features of LOF variants were different from GOF variants in KCNJ11-MODY patients. It is necessary to evaluate the pathogenicity of VUS through function experiments.

目的:KCNJ11的功能增益(GOF)变异会导致新生儿糖尿病和青年成熟型糖尿病(KCNJ11-MODY),而功能缺失(LOF)变异则会导致高胰岛素血症、低血糖和继发性糖尿病。鉴于对 KCNJ11-MODY 的研究有限,我们旨在分析其在中国早发 2 型糖尿病(EOD)患者中的表型特征和患病率:我们对 679 例中国 EOD 患者进行了新一代测序,以筛查 KCNJ11 外显子变异。采用生物信息学预测和美国医学遗传学和基因组学学院指南确定致病性,并诊断为 KCNJ11-MODY。通过文献综述研究了KCNJ11-MODY的表型特征:结果:我们在 6 例 EOD 患者(0.88%)中发现了 6 个预测的有害罕见变异。这些变异被归类为意义不确定变异(variant of uncertain significance [VUS]),但与中国普通人群数据库相比,这些变异在EOD队列中更为常见,但无显著差异(53/10,588,0.50%)(p = .268)。在之前报道的80例KCNJ11-MODY患者中,23.8%(19/80)的患者携带9个(32.1%)LOF变体,与携带GOF变体的患者相比,这些患者的诊断年龄明显较大,出生体重较高,空腹C肽较高。许多携带VUS的患者没有得到正确诊断:结论:KCNJ11的一些罕见变异可能是导致中国EOD发病的原因之一,尽管现有证据不足以支持它们是KCNJ11-MODY的病因。在KCNJ11-MODY患者中,LOF变异体的临床特征与GOF变异体不同。有必要通过功能实验来评估 VUS 的致病性。
{"title":"Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review","authors":"Tianhao Ba,&nbsp;Qian Ren,&nbsp;Siqian Gong,&nbsp;Meng Li,&nbsp;Xiaoling Cai,&nbsp;Wei Liu,&nbsp;Yingying Luo,&nbsp;Simin Zhang,&nbsp;Rui Zhang,&nbsp;Lingli Zhou,&nbsp;Yu Zhu,&nbsp;Xiuying Zhang,&nbsp;Jing Chen,&nbsp;Jing Wu,&nbsp;Xianghai Zhou,&nbsp;Yufeng Li,&nbsp;Xirui Wang,&nbsp;Fang Wang,&nbsp;Liyong Zhong,&nbsp;Xueyao Han,&nbsp;Linong Ji","doi":"10.1111/cen.15126","DOIUrl":"10.1111/cen.15126","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Gain-of-function (GOF) variants of <i>KCNJ11</i> cause neonate diabetes and maturity-onset diabetes of the young (<i>KCNJ11</i>-MODY), while loss-of-function (LOF) variants lead to hyperinsulinemia hypoglycemia and subsequent diabetes. Given the limited research of <i>KCNJ11</i>-MODY, we aimed to analyse its phenotypic features and prevalence in Chinese patients with early-onset type 2 diabetes (EOD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients and Measurements</h3>\u0000 \u0000 <p>We performed next-generation sequencing on 679 Chinese EOD patients to screen for <i>KCNJ11</i> exons variants. Bioinformatics prediction and the American College of Medical Genetics and Genomics guidelines was used to determine the pathogenicity and diagnosed <i>KCNJ11</i>-MODY. A literature review was conducted to investigate the phenotypic features of <i>KCNJ11</i>-MODY.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified six predicted deleterious rare variants in six EOD patients (0.88%). They were classified as uncertain significance (variant of uncertain significance [VUS]), but more common in this EOD cohort than a general Chinese population database, however, without significant difference (53/10,588, 0.50%) (<i>p</i> = .268). Among 80 previously reported patients with <i>KCNJ11</i>-MODY, 23.8% (19/80) carried 9 (32.1%) LOF variants, who had significantly older age at diagnosis, higher birthweight and higher fasting C-peptide compared to patients with GOF variants. Many patients carrying VUS were not correctly diagnosed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Some rare variants of <i>KCNJ11</i> might contribute to the development of Chinese EOD, although available evidence has not enough power to support them as cause of <i>KCNJ11</i>-MODY. The clinical features of LOF variants were different from GOF variants in <i>KCNJ11</i>-MODY patients. It is necessary to evaluate the pathogenicity of VUS through function experiments.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142072192","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}
引用次数: 0
Biomarkers to inform the management of polycystic ovary syndrome: A review of systematic reviews 为多囊卵巢综合征管理提供依据的生物标志物:系统回顾综述。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-08-18 DOI: 10.1111/cen.15101
Hugo Walford, Bede Tyler, Ali Abbara, Sophie Clarke, Vikram Talaulikar, Bassel Al Wattar

Introduction

Polycystic ovarian syndrome (PCOS) is the commonest endocrine condition affecting reproductive age women. Many biomarkers may aid assessment and management, however evidence is limited on their utility in clinical practice. We conducted a review of systematic reviews to identify the most useful biomarkers in the clinical management of PCOS.

Methods

We searched MEDLINE, EMBASE, CENTRAL and HTA until August 2023 for reviews evaluating biomarkers in PCOS women compared to healthy controls. Methodological quality was assessed using the AMSTAR2 tool. We reported pooled evidence for each biomarker with 95% confidence intervals from the most recent, up-to-date, and best quality review.

Results

From 3360 citations, we included 75 systematic reviews (88 biomarkers, 191,792 women). Most reviews (50/75, 67%) were moderate quality, but reported high heterogeneity (66/75, 88%). We identified 63 abnormal biomarkers in women with PCOS versus healthy controls. Of these, 22 core biomarkers could help evaluate the multisystemic impact of PCOS and inform patient management and surveillance: dehydroepiandrosterone, prolactin, sex hormone-binding globulin, total and free testosterone, anti-Mullerian hormone, systolic and diastolic blood pressure, c-reactive protein, fibrinogen, oral glucose tolerance test, homoeostatic model assessment-insulin resistance index, fasting insulin, total cholesterol, triglycerides, lipoprotein(a), HDL, LDL, non-HDL-cholesterol, ferritin, iron, and 25-hydroxy-vitamin D.

Conclusion

We identified 22 core biomarkers assessing the multisystemic impact of PCOS and inform its clinical management. Future research is required to establish validated healthcare pathways.

导言多囊卵巢综合征(PCOS)是影响育龄妇女最常见的内分泌疾病。许多生物标志物可帮助评估和管理,但有关其在临床实践中的效用的证据却很有限。我们对系统综述进行了回顾,以确定在多囊卵巢综合症临床管理中最有用的生物标志物:方法:我们检索了 MEDLINE、EMBASE、CENTRAL 和 HTA(截至 2023 年 8 月)中有关评估 PCOS 妇女与健康对照组生物标志物的综述。使用 AMSTAR2 工具对方法学质量进行了评估。我们报告了每种生物标志物的汇集证据,以及来自最近、最新和质量最好的综述的 95% 置信区间:从 3360 条引文中,我们纳入了 75 篇系统综述(88 种生物标志物,191792 名女性)。大多数综述(50/75,67%)质量中等,但报告的异质性较高(66/75,88%)。我们在患有多囊卵巢综合症的女性与健康对照组中发现了 63 种异常生物标志物。其中,22 个核心生物标志物有助于评估多囊卵巢综合症的多系统影响,并为患者管理和监测提供信息:脱氢表雄酮、催乳素、性激素结合球蛋白、总睾酮和游离睾酮、抗穆勒氏管激素、收缩压和舒张压、c 反应蛋白、纤维蛋白原、口服葡萄糖耐量试验、胰岛素抵抗指数、空腹胰岛素、总胆固醇、甘油三酯、脂蛋白(a)、高密度脂蛋白、低密度脂蛋白、非高密度脂蛋白胆固醇、铁蛋白、铁和 25-羟维生素 D。结论我们确定了 22 个核心生物标志物,用于评估多囊卵巢综合征的多系统影响,并为临床管理提供依据。未来的研究需要建立有效的医疗路径。
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引用次数: 0
Genomic testing for differences of sex development: Practices and perceptions of clinicians 性别发育差异基因组检测:临床医生的做法和看法。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-08-18 DOI: 10.1111/cen.15123
Gabby Atlas, Chloe Hanna, Tiong Yang Tan, Amy Nisselle, Elena Tucker, Katie Ayers, Andrew Sinclair, Michele A. O'Connell

Objectives

To investigate the approach taken by clinicians involved in the diagnosis and management of individuals with Differences of Sex Development (DSD), particularly with regard to genomic testing, and identify perceived gaps/strengths/barriers in current practice.

Design and Methods

An anonymous online survey was developed, with questions exploring demographics, perceptions of genomic testing, availability of genetics services and opinions on the role and utility of genomic testing in DSD. All responses were anonymous. Clinicians involved in the diagnosis and management of individuals with DSD were recruited from relevant societies and departments across Australia and New Zealand.

Results

79 eligible clinicians commenced the survey, with 63 completing it and 16 providing a partial response. The perceived benefit of having a genetic diagnosis for DSD was almost unanimous (97%). Almost half (48%) of respondents reported barriers in genomic testing. 81% of respondents reported they order genomic tests currently. Approaches to genomic testing when faced with four different clinical scenarios varied across respondents. Clinicians perceived genomic testing to be underutilised (median 36 on sliding scale from 0 to 100).

Conclusions

Despite 97% of respondents reporting benefit of a genetic diagnosis for individuals with DSD, this was not reflected throughout the survey with regard to clinical implementation. When faced with clinical scenarios, the recommendations for genomic testing from respondents was much lower, indicating the discrepancy between perception and clinical practice. Genomic testing in the context of DSD is seen as both beneficial and desired, yet there are multiple barriers impacting its integration into standard clinical care.

目的调查参与诊断和管理性别发育差异(DSD)患者的临床医生所采取的方法,尤其是在基因组检测方面,并找出当前实践中存在的差距/优势/障碍:设计:我们开发了一项匿名在线调查,问题包括人口统计学、对基因组检测的看法、遗传学服务的可用性以及对基因组检测在DSD中的作用和实用性的看法。所有回答均为匿名。参与诊断和管理DSD患者的临床医生是从澳大利亚和新西兰的相关学会和部门招募的:79名符合条件的临床医生开始了调查,其中63人完成了调查,16人提供了部分回复。对 DSD 进行基因诊断的好处几乎得到了一致认可(97%)。近一半(48%)的受访者表示基因组检测存在障碍。81% 的受访者表示他们目前会订购基因组检测。面对四种不同的临床情况,受访者对基因组检测的态度各不相同。临床医生认为基因组检测未得到充分利用(从0到100的滑动量表中位数为36):尽管 97% 的受访者表示基因诊断可为 DSD 患者带来益处,但在整个调查中,临床实施情况并未反映出这一点。在面对临床情况时,受访者对基因组检测的建议要低得多,这表明认知与临床实践之间存在差异。在 DSD 的背景下,基因组检测被认为是有益的,也是人们所期望的,但在将其纳入标准临床护理方面却存在着多重障碍。
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引用次数: 0
Visual morbidity in macroprolactinoma: A retrospective cohort study 大泌乳素瘤的视觉发病率:一项回顾性队列研究。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-08-18 DOI: 10.1111/cen.15120
Yaron Rudman, Hadar Duskin-Bitan, Hiba Masri-Iraqi, Amit Akirov, Ilan Shimon

Objective

The management of visual field damage in patients with macroprolactinomas is a major therapeutic challenge. We aimed to study the visual morbidity associated with macroprolactinoma and its outcomes following medical and surgical treatment. We aimed to identify predictors of visual recovery.

Methods

We retrospectively reviewed patient's data including clinical presentation, serial pituitary magnetic resonance imaging, laboratory tests, visual symptoms and neuro-ophthalmologic examination, visual field tests and optical coherence tomography tests. The main outcome was complete visual field recovery. Descriptive analyses were conducted. Predictors of visual recovery were investigated.

Patients

The study cohort included 150 patients with macroprolactinoma [median follow-up, 6.0 years (interquartile range (IQR) 2.9–10.6)].

Results

At diagnosis, visual field defects were evident in 40 patients (26.7%). At the end of follow-up, 24 out of 39 available visual field tests (61.5%) exhibited complete recovery. Patients that achieved complete visual recovery had smaller macroadenomas at diagnosis [30.5 mm (15.0–80.0) vs. 42.0 mm (30.0–85.0), p < .01], lower baseline serum prolactin levels [1414 mcg/L (489–3586) vs. 4119 mcg/L (2715–6315), p < .01], lower rates of central hypogonadism (78.3% vs. 93.3%, p = .05) and central hypothyroidism (20.8% vs. 53.3%, p = .04), lower rates of compressive optic neuropathy (35.3% vs. 87.5%, p = .02) and a better visual acuity (better than 6/8 in both eyes, 93.7% vs. 28.6%, p < .01).

Conclusions

In our cohort of 150 patients with macroprolactinoma, 40 patients (26.7%) presented with visual field defects, of which 61.5% achieved complete visual recovery with treatment. Patients that achieved complete visual recovery presented with smaller macroadenomas, lower serum prolactin levels, lower rates of central hypogonadism and central hypothyroidism, lower rates of compressive optic neuropathy and better visual acuity.

目的:治疗大泌乳素瘤患者的视野损伤是一项重大的治疗挑战。我们旨在研究与大乳头状泌乳素瘤相关的视觉发病率及其药物和手术治疗后的结果。我们旨在确定视觉恢复的预测因素:我们回顾性地审查了患者的数据,包括临床表现、连续垂体磁共振成像、实验室检查、视觉症状和神经眼科检查、视野测试和光学相干断层扫描测试。主要结果是视野完全恢复。研究进行了描述性分析。研究还调查了视力恢复的预测因素:研究队列包括 150 名巨乳泌乳素瘤患者[中位随访时间为 6.0 年(四分位数间距(IQR)为 2.9-10.6 年)]:确诊时,40 名患者(26.7%)有明显的视野缺损。随访结束时,在 39 次视野测试中,有 24 次(61.5%)显示视野完全恢复。视力完全恢复的患者在确诊时的大腺瘤较小[30.5 毫米(15.0-80.0)与 42.0 毫米(30.0-85.0),p 结论:我们的 150 例大腺瘤患者中,有 10 例患者的视力完全恢复:在我们的 150 例大乳头状泌乳素瘤患者中,有 40 例(26.7%)患者出现视野缺损,其中 61.5% 的患者在接受治疗后视力完全恢复。视力完全恢复的患者的大腺瘤较小,血清泌乳素水平较低,中枢性性腺功能减退症和中枢性甲状腺功能减退症的发生率较低,压迫性视神经病变的发生率较低,视力较好。
{"title":"Visual morbidity in macroprolactinoma: A retrospective cohort study","authors":"Yaron Rudman,&nbsp;Hadar Duskin-Bitan,&nbsp;Hiba Masri-Iraqi,&nbsp;Amit Akirov,&nbsp;Ilan Shimon","doi":"10.1111/cen.15120","DOIUrl":"10.1111/cen.15120","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The management of visual field damage in patients with macroprolactinomas is a major therapeutic challenge. We aimed to study the visual morbidity associated with macroprolactinoma and its outcomes following medical and surgical treatment. We aimed to identify predictors of visual recovery.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively reviewed patient's data including clinical presentation, serial pituitary magnetic resonance imaging, laboratory tests, visual symptoms and neuro-ophthalmologic examination, visual field tests and optical coherence tomography tests. The main outcome was complete visual field recovery. Descriptive analyses were conducted. Predictors of visual recovery were investigated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients</h3>\u0000 \u0000 <p>The study cohort included 150 patients with macroprolactinoma [median follow-up, 6.0 years (interquartile range (IQR) 2.9–10.6)].</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>At diagnosis, visual field defects were evident in 40 patients (26.7%). At the end of follow-up, 24 out of 39 available visual field tests (61.5%) exhibited complete recovery. Patients that achieved complete visual recovery had smaller macroadenomas at diagnosis [30.5 mm (15.0–80.0) vs. 42.0 mm (30.0–85.0), <i>p</i> &lt; .01], lower baseline serum prolactin levels [1414 mcg/L (489–3586) vs. 4119 mcg/L (2715–6315), <i>p</i> &lt; .01], lower rates of central hypogonadism (78.3% vs. 93.3%, <i>p</i> = .05) and central hypothyroidism (20.8% vs. 53.3%, <i>p</i> = .04), lower rates of compressive optic neuropathy (35.3% vs. 87.5%, <i>p</i> = .02) and a better visual acuity (better than 6/8 in both eyes, 93.7% vs. 28.6%, <i>p</i> &lt; .01).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In our cohort of 150 patients with macroprolactinoma, 40 patients (26.7%) presented with visual field defects, of which 61.5% achieved complete visual recovery with treatment. Patients that achieved complete visual recovery presented with smaller macroadenomas, lower serum prolactin levels, lower rates of central hypogonadism and central hypothyroidism, lower rates of compressive optic neuropathy and better visual acuity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15120","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141999497","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}
引用次数: 0
Diagnostic and management challenges in paediatric Cushing's syndrome 小儿库欣综合征的诊断和管理难题。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-08-15 DOI: 10.1111/cen.15096
Kriti Joshi, Anna Taliou, Constantine A. Stratakis

Objective

Cushing syndrome (CS) is the result of chronic exposure to glucocorticoid excess. CS in children is most often caused by the administration of exogenous steroids. Endogenous CS is rare in the paediatric population and is caused mainly by tumours of the pituitary and adrenal glands, with ectopic sources being extraordinarily rare before the age of 18 years. In addition, children and young adults with CS present with different epidemiology, management issues, prognosis and outcomes than older adult patients. This complex disorder needs early diagnosis and management to avoid the significant morbidity and even mortality that can result from chronic untreated CS.

Methods

In this review, we present the complex case of a 7-year-old boy with CS that highlights the diagnostic and management challenges of paediatric CS patients, including the considerations for genetic predisposition and life-long consequences of CS in children and young adults.

Results

The diagnostic protocols for the evaluation of CS have been devised for adults and tested predominantly on adults. In this review, we discuss necessary modifications so that the testing can be adjusted for use in children. Additionally, pituitary adenomas in children are generally smaller and thus more difficult to recognize on pituitary imaging.

Conclusions

The management of the case and its complexities underline the need for children with CS to be managed in a centre with experienced paediatric endocrinologists and skilled neurosurgeons both for their initial diagnosis and treatment as well as for their long-term follow-up and management.

目的:库欣综合征(CS库欣综合征(CS)是糖皮质激素长期过量的结果。儿童库欣综合征多由外源性类固醇引起。内源性 CS 在儿科人群中较为罕见,主要由垂体和肾上腺肿瘤引起,异位来源的 CS 在 18 岁之前极为罕见。此外,儿童和青少年 CS 患者的流行病学、管理问题、预后和疗效都与老年患者不同。这种复杂的疾病需要早期诊断和治疗,以避免因长期不治疗 CS 而导致严重的发病甚至死亡:在这篇综述中,我们介绍了一名患有 CS 的 7 岁男孩的复杂病例,突出强调了儿科 CS 患者在诊断和管理方面的挑战,包括考虑遗传易感性以及 CS 对儿童和青少年的终身影响:评估 CS 的诊断方案是为成人设计的,主要在成人身上进行测试。在这篇综述中,我们讨论了必要的修改,以便将测试调整用于儿童。此外,儿童的垂体腺瘤通常较小,因此在垂体成像中更难识别:该病例的处理及其复杂性突出表明,CS患儿需要在有经验丰富的儿科内分泌专家和技术精湛的神经外科医生的中心进行管理,以便对其进行初步诊断和治疗,以及长期随访和管理。
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引用次数: 0
期刊
Clinical Endocrinology
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