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Pseudoacromegaly—A challenging entity in the endocrine clinic: A systematic review 假性肢端肥大症--内分泌临床中的难题:系统综述。
IF 3.2 3区 医学 Q2 Medicine Pub Date : 2024-03-28 DOI: 10.1111/cen.15053
Pedro Marques, Inês Sapinho, Márta Korbonits

Objective

Pseudoacromegaly encompasses conditions with features of acromegaly/gigantism, but no growth hormone (GH) or insulin-like growth factor-1 (IGF-1) excess. We aimed to review published pseudoacromegaly cases evaluated due to clinical suspicion of acromegaly.

Design/Patients

PubMed/Medline search was conducted to identify reported pseudoacromegaly cases, which were systematically reviewed to ensure they met eligibility criteria: (1) presentation suggestive of acromegaly; (2) acromegaly excluded based on normal GH, IGF-1 and/or GH suppression on oral glucose tolerance test (OGTT-GH); (3) diagnosis of the pseudoacromegaly condition was established. Data were retrieved from each case and analysed collectively.

Results

Of 76 cases, 47 were males, mean ages at presentation and at first acromegaloid symptoms were 28 ± 16 and 17 ± 10 years, respectively. Most common conditions were pachydermoperiostosis (47%) and insulin-mediated pseudoacromegaly (IMP) (24%). Acromegaloid facies (75%) and acral enlargement (80%) were the most common features. Measurement of random GH was reported in 65%, IGF-1 in 79%, OGTT-GH in 51%. GH excess was more frequently excluded based on two tests (53%). Magnetic resonance imaging (MRI) was performed in 30 patients, with pituitary adenoma or hyperplasia being reported in eight and three patients, respectively. Investigations differed between cases managed by endocrine and non-endocrine specialists, the former requesting more often IGF-1, OGTT-GH and pituitary MRI.

Conclusions

Pseudoacromegaly is a challenging entity that may be encountered by endocrinologists. Pachydermoperiostosis and IMP are the conditions most often mimicking acromegaly. Adequate assessment of GH/IGF-1 is crucial to exclude acromegaly, which may be better performed by endocrinologists. Pituitary incidentalomas are common and require careful judgement to prevent unnecessary pituitary surgery.

目的:假性肢端肥大症包括具有肢端肥大症/巨人症特征,但没有生长激素(GH)或胰岛素样生长因子-1(IGF-1)过量的病症。我们旨在回顾已发表的因临床怀疑肢端肥大症而进行评估的假性肢端肥大症病例:我们对已发表的假性肢端肥大症病例进行了系统回顾,以确保这些病例符合资格标准:(1)有提示肢端肥大症的表现;(2)根据正常的 GH、IGF-1 和/或口服葡萄糖耐量试验(OGTT-GH)的 GH 抑制排除肢端肥大症;(3)确定了假性肢端肥大症的诊断。对每个病例的数据进行检索和汇总分析:76例病例中,47例为男性,发病时和首次出现肢端肥大症症状时的平均年龄分别为(28±16)岁和(17±10)岁。最常见的疾病是肢端肥大症(47%)和胰岛素介导的假性肢端肥大症(IMP)(24%)。痤疮面容(75%)和痤疮肿大(80%)是最常见的特征。据报告,65%的患者测量了随机 GH,79%的患者测量了 IGF-1,51%的患者测量了 OGTT-GH。根据两项检测结果排除 GH 过多的比例更高(53%)。对 30 名患者进行了磁共振成像(MRI)检查,结果显示分别有 8 名和 3 名患者患有垂体腺瘤或垂体增生。由内分泌专家和非内分泌专家管理的病例进行的检查有所不同,前者更常要求进行IGF-1、OGTT-GH和垂体磁共振成像检查:假性脑积水是内分泌专家可能会遇到的一种具有挑战性的疾病。假性肢端肥大症是内分泌科医生可能会遇到的一种具有挑战性的疾病。对GH/IGF-1进行充分评估是排除肢端肥大症的关键,这最好由内分泌科医生进行。垂体偶发瘤很常见,需要仔细判断以避免不必要的垂体手术。
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引用次数: 0
Macroprolactin over time: Is there any point in rechecking it in people with a persistently elevated serum prolactin? 巨泌乳素随时间变化:对于血清泌乳素持续升高的人,是否有必要复查?
IF 3.2 3区 医学 Q2 Medicine Pub Date : 2024-03-27 DOI: 10.1111/cen.15051
Mark Livingston, Syeda F. Hashmi, Sudarshan Ramachandran, Ian Laing, Adrian Heald

Objective and Design

Macroprolactinemia may influence the interpretation of serum prolactin levels—a recognised phenomenon since 1981. The degree of macroprolactinaemia over time is less well described. We determined how macroprolactin status (based on polyethylene glycol (PEG) precipitation) varied by analysing serial measurements in hyperprolactinaemic individuals over a period of 9 years.

Patients and Measurements

Results from 1810 individuals were included. All serum total prolactin results (measured using Roche Cobas 8000 analyser) were extracted from the laboratory information system for the period 1 January 2012 to 1 April 2021, along with relevant patient demographic/test data. Samples with a macroprolactin screening test performed (on samples with prolactin > 700 miu/L) were included in the main analysis.

Results

During the study period, 2782 macroprolactin checks were performed (12.5% of all prolactin tests) in 1810 individuals (599 males/2183 females, median-age: 35, interquartile range: 25–47, range: 16–93 years). Multiple macroprolactin checks were carried out on 465 patients (1437 measurements) with 94 patients (141 measurements) screening positive (<60% recovery). Only 19 patients (18 female) had at least one result above and one below the 60% screening cut-off, with 10 of these patients having results close to the 60% cut-off; in 9 patients, results were clearly different between repeat samples. In seven cases, the adjusted monomeric prolactin showed a potentially clinically significant difference.

Conclusions

In this study, only 19/465 patients appeared to change macroprolactin status based on a 60% PEG recovery cut-off. The majority of these 19 patients were on antipsychotic/antidepressant medication(s) or had a prolactinoma; in only 7 did monomeric prolactin change significantly. This suggests that once macroprolactin status has been determined, clinical decision making is rarely affected by repeating it.

目的和设计:巨泌乳素血症可能会影响对血清泌乳素水平的解释,这一现象自 1981 年以来就已得到认可。大泌乳素血症的程度随时间变化的描述较少。我们通过分析高催乳素血症患者 9 年间的连续测量结果,确定了大催乳素状态(基于聚乙二醇(PEG)沉淀)的变化情况:纳入了 1810 人的结果。从实验室信息系统中提取了2012年1月1日至2021年4月1日期间的所有血清总泌乳素结果(使用罗氏Cobas 8000分析仪测量)以及相关的患者人口统计学/检测数据。进行过巨泌乳素筛查试验的样本(泌乳素大于 700 miu/L 的样本)被纳入主要分析:在研究期间,共对 1810 名患者(599 名男性/2183 名女性,中位年龄:35 岁,四分位数范围:35 岁)进行了 2782 次巨泌乳素检查(占所有泌乳素检查的 12.5%):35岁,四分位数区间:25-47岁,范围:16-93岁):16-93岁)。对 465 名患者(1437 次测量结果)进行了多次巨泌乳素检查,其中 94 名患者(141 次测量结果)筛查结果呈阳性(结论:在这项研究中,仅有 19/465 名患者的巨泌乳素检测结果呈阳性:在这项研究中,根据 60% 的 PEG 恢复临界值计算,只有 19/465 名患者的宏观泌乳素状态发生了变化。在这 19 名患者中,大多数都在服用抗精神病/抗抑郁药物或患有泌乳素瘤;只有 7 名患者的单体泌乳素发生了显著变化。这表明,一旦确定了巨泌乳素的状态,临床决策就很少受到重复检查的影响。
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引用次数: 0
Value of cannulated prolactin testing in identifying true hyperprolactinaemia in females of reproductive age 插管泌乳素检测在识别育龄女性真正的高泌乳素血症方面的价值。
IF 3.2 3区 医学 Q2 Medicine Pub Date : 2024-03-20 DOI: 10.1111/cen.15048
Su Ann Tee, Hady Gad, Christopher Boot, Andy James, Yaasir Mamoojee, the RVI Endocrine Group
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引用次数: 0
Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland 服务评估表明,英国和爱尔兰为患有先天性肾上腺皮质增生症的成人提供的临床护理存在差异。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-03-17 DOI: 10.1111/cen.15043
Lauren Madden Doyle, S. Faisal Ahmed, Jessica Davis, Sue Elford, Yasir S. Elhassan, Lynette James, Neil Lawrence, Sofia Llahana, Grace Okoro, D. Aled Rees, Jeremy W. Tomlinson, Michael W. O'Reilly, Nils P. Krone

Background

Congenital adrenal hyperplasia (CAH) encompasses a rare group of autosomal recessive disorders, characterised by enzymatic defects in steroidogenesis. Heterogeneity in management practices has been observed internationally. The International Congenital Adrenal Hyperplasia registry (I-CAH, https://sdmregistries.org/) was established to enable insights into CAH management and outcomes, yet its global adoption by endocrine centres remains unclear.

Design

We sought (1) to assess current practices amongst clinicians managing patients with CAH in the United Kingdom and Ireland, with a focus on choice of glucocorticoid, monitoring practices and screening for associated co-morbidities, and (2) to assess use of the I-CAH registry.

Measurements

We designed and distributed an anonymised online survey disseminated to members of the Society for Endocrinology and Irish Endocrine Society to capture management practices in the care of patients with CAH.

Results

Marked variability was found in CAH management, with differences between general endocrinology and subspecialist settings, particularly in glucocorticoid use, biochemical monitoring and comorbidity screening, with significant disparities in reproductive health monitoring, notably in testicular adrenal rest tumours (TARTs) screening (p = .002), sperm banking (p = .0004) and partner testing for CAH (p < .0001). Adoption of the I-CAH registry was universally low.

Conclusions

Differences in current management of CAH continue to exist. It appears crucial to objectify if different approaches result in different long-term outcomes. New studies such as CaHASE2, incorporating standardised minimum datasets including replacement therapies and monitoring strategies as well as longitudinal data collection, are now needed to define best-practice and standardise care.

背景:先天性肾上腺皮质增生症(CAH先天性肾上腺皮质增生症(CAH)是一组罕见的常染色体隐性遗传疾病,其特点是类固醇生成过程中的酶缺陷。国际上的管理方法存在差异。国际先天性肾上腺皮质增生症登记处(I-CAH,https://sdmregistries.org/)的建立有助于深入了解CAH的管理和结果,但全球内分泌中心对该登记处的采用情况仍不清楚:我们的目的是:(1)评估英国和爱尔兰管理 CAH 患者的临床医生的现行做法,重点是糖皮质激素的选择、监测方法和相关并发症的筛查;(2)评估 I-CAH 登记的使用情况:我们设计并向内分泌学会和爱尔兰内分泌学会成员分发了匿名在线调查,以了解 CAH 患者的护理管理方法:结果发现,CAH管理存在明显差异,普通内分泌科和亚专科之间存在差异,尤其是在糖皮质激素的使用、生化监测和合并症筛查方面,而在生殖健康监测方面存在显著差异,尤其是在睾丸肾上腺憩室肿瘤(TARTs)筛查(p = .002)、精子库(p = .0004)和伴侣CAH检测(p 结论:CAH患者目前的管理存在差异:目前对 CAH 的管理仍然存在差异。确定不同方法是否会导致不同的长期结果似乎至关重要。现在需要开展新的研究,如 CaHASE2,纳入标准化的最低数据集,包括替代疗法和监测策略以及纵向数据收集,以确定最佳做法并实现护理标准化。
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引用次数: 0
A nationwide registry-based observational study of thyroid disease incidence in the Faroe Islands 法罗群岛甲状腺疾病发病率的全国性登记观察研究。
IF 3.2 3区 医学 Q2 Medicine Pub Date : 2024-03-13 DOI: 10.1111/cen.15050
Herborg Líggjasardóttir Johannesen, Anna Sofía Veyhe, Jens Andreassen, Pál Weihe, Marin Strøm, Guðrið Andorsdóttir, Aase Krogh Rasmussen, Ulla Feldt-Rasmussen, Allan Carlé, Stig Andersen

Objective

The occurrence of thyroid disease varies among populations. While the iodine nutrition level of the Faroese seems to have been decreasing over the past decades, there is no systematic evaluation of the thyroid disease pattern in the Faroe Islands. Such knowledge of thyroid disease occurrence in the North Atlantic region may support healthcare planning and prevention. To investigate incidence rates, including subtypes of thyroid diseases, and demographic characteristics of thyroid disease patients in the Faroe Islands, to improve understanding of the patterns and trends of these disorders.

Design and Method

A registry-based observational study was conducted over 10 years, encompassing all adult Faroese individuals. Patients and Measurements: Health records from general practitioners and hospitals were used to identify incident cases of thyroid diseases. Validation was performed using multiple data sources. The incidence rates were standardised using population data from the middle of the study period 2006–2018.

Results

Among the 1152 individuals diagnosed with thyroid disease, the standardised incidence rates per 100,000 person-years were 55 for hyperthyroidism and 112 for hypothyroidism, and around four times higher in women than in men. Hashimoto's thyroiditis was the dominant cause of hypothyroidism, while Graves' disease was the leading cause of hyperthyroidism. The incidence of hypothyroidism increases with age. A decreasing trend was observed over time for both hypothyroidism and hyperthyroidism.

Conclusion

Considering the decrease in iodine nutrition levels over the past decades, we were surprised by the high incidence of autoimmune thyroid disease. The findings highlight the need for continuous monitoring of thyroid disease occurrence in coastal areas of the North Atlantic Ocean.

目的甲状腺疾病的发生率因人而异。虽然法罗群岛人的碘营养水平在过去几十年中似乎有所下降,但目前还没有对法罗群岛的甲状腺疾病模式进行系统评估。对北大西洋地区甲状腺疾病发生情况的了解可能有助于医疗保健规划和预防。调查法罗群岛甲状腺疾病的发病率(包括甲状腺疾病的亚型)和甲状腺疾病患者的人口统计学特征,以加深对这些疾病的模式和趋势的了解:设计与方法:进行了一项为期10年的登记观察研究,研究对象包括所有成年法罗群岛人:患者和测量方法:利用全科医生和医院的健康记录来确定甲状腺疾病的病例。使用多个数据源进行验证。发病率采用2006-2018年研究中期的人口数据进行标准化处理:在确诊的1152名甲状腺疾病患者中,甲状腺功能亢进症的标准化发病率为每10万人年55例,甲状腺功能减退症为每10万人年112例,女性发病率约为男性的4倍。桥本氏甲状腺炎是甲状腺功能减退症的主要病因,而巴塞杜氏病则是甲状腺功能亢进症的主要病因。甲减的发病率随着年龄的增长而增加。随着时间的推移,甲减和甲亢的发病率都呈下降趋势:考虑到过去几十年来碘营养水平的下降,我们对自身免疫性甲状腺疾病的高发病率感到惊讶。这些发现强调了对北大西洋沿岸地区甲状腺疾病发生率进行持续监测的必要性。
{"title":"A nationwide registry-based observational study of thyroid disease incidence in the Faroe Islands","authors":"Herborg Líggjasardóttir Johannesen,&nbsp;Anna Sofía Veyhe,&nbsp;Jens Andreassen,&nbsp;Pál Weihe,&nbsp;Marin Strøm,&nbsp;Guðrið Andorsdóttir,&nbsp;Aase Krogh Rasmussen,&nbsp;Ulla Feldt-Rasmussen,&nbsp;Allan Carlé,&nbsp;Stig Andersen","doi":"10.1111/cen.15050","DOIUrl":"10.1111/cen.15050","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The occurrence of thyroid disease varies among populations. While the iodine nutrition level of the Faroese seems to have been decreasing over the past decades, there is no systematic evaluation of the thyroid disease pattern in the Faroe Islands. Such knowledge of thyroid disease occurrence in the North Atlantic region may support healthcare planning and prevention. To investigate incidence rates, including subtypes of thyroid diseases, and demographic characteristics of thyroid disease patients in the Faroe Islands, to improve understanding of the patterns and trends of these disorders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design and Method</h3>\u0000 \u0000 <p>A registry-based observational study was conducted over 10 years, encompassing all adult Faroese individuals. <b>Patients and Measurements</b>: Health records from general practitioners and hospitals were used to identify incident cases of thyroid diseases. Validation was performed using multiple data sources. The incidence rates were standardised using population data from the middle of the study period 2006–2018.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among the 1152 individuals diagnosed with thyroid disease, the standardised incidence rates per 100,000 person-years were 55 for hyperthyroidism and 112 for hypothyroidism, and around four times higher in women than in men. Hashimoto's thyroiditis was the dominant cause of hypothyroidism, while Graves' disease was the leading cause of hyperthyroidism. The incidence of hypothyroidism increases with age. A decreasing trend was observed over time for both hypothyroidism and hyperthyroidism.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Considering the decrease in iodine nutrition levels over the past decades, we were surprised by the high incidence of autoimmune thyroid disease. The findings highlight the need for continuous monitoring of thyroid disease occurrence in coastal areas of the North Atlantic Ocean.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15050","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140118944","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
Initial surgical management of sporadic medullary thyroid cancer: Guidelines based optimal care - A systematic review 散发性甲状腺髓样癌的初始外科治疗:基于指南的最佳治疗--系统综述。
IF 3.2 3区 医学 Q2 Medicine Pub Date : 2024-03-12 DOI: 10.1111/cen.15041
Oded Cohen, Sharon Tzelnick, Gregory Randolph, Alessandra Rinaldo, Fernando Álvarez, Juan P. Rodrigo, Nabil F. Saba, Sandra Nuyts, June Corry, Antti A. Mäkitie, Vincent Vander Poorten, Cherie-Ann Nathan, Cesare Piazza, Alfio Ferlito

Introduction

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor from parafollicular cells that produce calcitonin (Ct). Despite several existing guidelines for the surgical management of sporadic MTC (sMTC), optimal initial surgical management of the thyroid, the central and the lateral neck remains a matter of debate.

Methods

A systematic review in PubMed and Scopus for current guidelines addressing the surgical management of sMTC and its referenced citations was conducted as per the PRISMA guidelines.

Results

Two-hundred and one articles were identified, of which 7 met the inclusion criteria. Overall, guidelines vary significantly in their recommendations for the surgical management of sMTC. Only one guideline recommended partial thyroidectomy for limited disease, but the possibility to avoid completion thyroidectomy in selected cases is acknowledged in 42% (3/7) of the remaining guidelines. The majority of guidelines (71.4%; 5/7) recommended prophylactic central neck dissection (CND) for all patients while the remaining two guidelines recommended CND based on Ct level and tumor size. The role of prophylactic lateral neck dissection based on preoperative Ct levels was recommended by 42% (3/7) of guidelines. Overall, these guidelines are based on low-quality evidence, mostly single-center retrospective series, some of which are over 20 years old.

Conclusion

Current surgical management guidelines of sMTC should be revised, and ought to be based on updated data challenging current recommendations, which are based on historic, low-quality evidence. Partial thyroidectomy may become a viable option for small, limited tumors. Prospective, multi-center studies may be useful to conclude whether prophylactic ND is necessary in all sMTC patients.

简介甲状腺髓样细胞癌(MTC)是一种罕见的神经内分泌肿瘤,其来源于能产生降钙素(Ct)的滤泡旁细胞。尽管已有一些关于散发性甲状腺髓样癌 (sMTC) 手术治疗的指南,但甲状腺、颈部中央和外侧的最佳初始手术治疗仍存在争议:方法:根据PRISMA指南,在PubMed和Scopus上对目前针对散发性MTC手术治疗的指南及其参考引文进行了系统性回顾:结果:共发现 201 篇文章,其中 7 篇符合纳入标准。总体而言,各指南对sMTC手术治疗的建议差异很大。只有一份指南建议对局限性疾病进行甲状腺部分切除术,但在其余42%(3/7)的指南中,都承认在选定病例中可以避免完整甲状腺切除术。大多数指南(71.4%;5/7)建议对所有患者进行预防性颈部中央切除术(CND),而其余两份指南则建议根据Ct水平和肿瘤大小进行颈部中央切除术。42%(3/7)的指南建议根据术前 Ct 水平进行预防性侧颈切除术。总体而言,这些指南所依据的证据质量较低,大多是单中心回顾性系列研究,其中一些研究的历史已超过20年:结论:目前的sMTC手术治疗指南应予以修订,并应基于最新数据,对目前基于历史性低质量证据的建议提出质疑。甲状腺部分切除术可能成为局限性小肿瘤的可行选择。前瞻性的多中心研究可能有助于确定是否有必要对所有 sMTC 患者进行预防性 ND。
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引用次数: 0
Response to letter to the editor: ‘Gonadal tumour screening in XY gonadal dysgenesis’ 回复致编辑的信:"XY性腺发育不良的性腺肿瘤筛查"。
IF 3.2 3区 医学 Q2 Medicine Pub Date : 2024-03-12 DOI: 10.1111/cen.15039
Sabine E. Hannema, Katja P. Wolffenbuttel, Yolande van Bever, Hennie T. Bruggenwirth, Remko Hersmus, J. Wolter Oosterhuis, Leendert H. J. Looijenga

To the Editor, We read with interest the letter by Barbar et al. We recognise the clinical scenario described by Barbar et al. of patients with XY gonadal dysgenesis or other types of differences/disorders of sex development (DSD) with a significant risk of germ cell cancer who are hesitant to undergo a prophylactic gonadectomy.1 Whereas in children the situation is more complex, with parents having to make medical decisions on behalf of their child, adults with DSD can of course decide for themselves to undergo such surgery or not. However, careful counselling and accurate information are essential for patients to be able to make an informed decision. The multidisciplinary DSD team should make sure the individual understands the risk of developing germ cell cancer as well as the chance of remaining function of the gonad with regard to hormone production and fertility. In the patient described by Barbar et al. gonads were afunctional but in prepubertal children there may be some uncertainty about this, and in patients with partial gonadal dysgenesis residual function may vary and needs to be taken into consideration. The consequences of gonadectomy should be explained, that is, the need for and impact of hormone replacement therapy. In addition, the scenario where gonads are left in situ needs to be discussed. In case of afunctional gonads hormone replacement therapy will also be necessary. Periodic monitoring of gonads is recommended but is should be clear that this is aimed at early detection of germ cell cancer rather than preventing germ cell cancer, as premalignant lesions cannot currently be reliably detected through blood tests or imaging. Sertoli cell markers unfortunately are of little help as our recent study showed that germ cell cancer was present in three out of eleven (27%) of those with undetectable serum AMH and inhibin B, which is similar to the 15−40% risk described for gonadal dysgenesis in general.2 Although those with very low or undetectable AMH and inhibin B have a lower chance of having any germ cells, the risk of any remaining germ cells to develop into germ cell cancer may be higher because of the severe dysgenesis of the gonads. Lastly, social and cultural factors can also play a role and it is important to identify possible barriers, such as fear of anaesthesia or surgery, or worries about the costs of surgery or need to take leave from work, that may prevent some individuals from undergoing gonadectomy even when they are convinced of the need for the procedure. Peer support as well as psychological counselling may help individuals to weigh all the pros and cons when deciding on a prophylactic gonadectomy.

Currently there is an ongoing international study investigating the practice of gonadectomy in individuals with DSD through the I-DSD registry (https://sdmregistries.org/). We agree with Barbar et al. that to increase knowledge in this field it would be highly

我们认识到Barbar等人所描述的临床情况,即XY性腺发育不良或其他类型的差异/性发育障碍(DSD)患者有患生殖细胞癌的重大风险,但他们对是否接受预防性性腺切除术犹豫不决1。然而,仔细的咨询和准确的信息对于患者做出明智的决定至关重要。多学科 DSD 团队应确保患者了解罹患生殖细胞癌的风险,以及性腺在激素分泌和生育方面保持功能的机会。在巴尔等人描述的患者中,性腺是无功能的,但在青春期前的儿童中,这一点可能存在一些不确定性,而部分性腺发育不良患者的残余功能可能会有所不同,需要加以考虑。应解释性腺切除术的后果,即激素替代疗法的必要性和影响。此外,还需要讨论性腺留在原位的情况。如果性腺没有功能,也需要进行激素替代治疗。建议定期监测性腺,但应明确监测的目的是早期发现生殖细胞癌,而不是预防生殖细胞癌,因为目前无法通过血液检测或成像可靠地检测出癌前病变。不幸的是,Sertoli 细胞标志物的作用不大,因为我们最近的研究表明,在血清 AMH 和抑制素 B 检测不到的 11 例患者中,有 3 例(27%)存在生殖细胞癌,这与一般性腺发育不良患者 15-40% 的风险相似2。最后,社会和文化因素也可能起作用,重要的是要找出可能存在的障碍,如害怕麻醉或手术,或担心手术费用或需要请假,这些障碍可能会阻碍一些人接受性腺切除术,即使他们确信有必要进行该手术。在决定是否进行预防性性腺切除术时,同伴支持和心理咨询可帮助患者权衡所有利弊。目前,一项国际研究正在通过 I-DSD 登记处调查 DSD 患者性腺切除术的实践情况 (https://sdmregistries.org/)。我们同意 Barbar 等人的观点,即为了增加这一领域的知识,收集选择将性腺留在原位的患者的结果数据将非常有价值。
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引用次数: 0
Beyond the bias! Sex distribution in paediatric growth hormone deficiency reexamined 超越偏见!重新审视小儿生长激素缺乏症的性别分布。
IF 3.2 3区 医学 Q2 Medicine Pub Date : 2024-03-11 DOI: 10.1111/cen.15047
Rohan K. Henry, Leena Mamilly, Monika Chaudhari, Brett G. Klamer, Melica Nikahd, Amy L. Pyle-Eilola

Objectives

Various biases pertaining to stature account for a male sex predominance in growth hormone deficiency (GHD) cases diagnosed by endocrinology clinics. This manuscript will assess the sex distribution when biases are minimised.

Methods

Retrospective chart review was conducted on patients diagnosed with GHD between 3 and 16 years of age. The sex distribution of cases was ascertained according to: (1) peak GH (pGH) by groups; based on growth hormone provocative testing, (2) pituitary gland imaging results, and (3) isolated GHD (IGHD) versus multiple pituitary hormone deficiencies (MPHD). The relative frequency of each sex was compared according to these subgroups with significance evaluated at α = .05 level.

Results

Of the 5880 clinic referrals for short stature, there were 3709 boys (63%) and 2171 girls (37%). Of these, 20% of boys (n = 745) and 15.3% of girls (n = 332) underwent provocative testing for GHD. Of those tested, 39.2% of boys (n = 292) and 32.2% of girls (n = 107) were diagnosed with GHD, all p < .001. There was a male predominance in GHD cases based on pGH or GHD severity. Though not significant, girls were more likely than boys to have MPHD (p = .056), even across pGH groups (p = .06). Both boys and girls had a similar distribution of imaging abnormalities.

Conclusion

Stratifying by sex, we found similar percentages of pituitary imaging abnormalities (including tumours) and the number of pituitary hormone deficiencies in boys and girls as the cause of GHD. For these classifications, we did not find the historically reported male sex predominance.

目的:在内分泌诊所诊断的生长激素缺乏症(GHD)病例中,男性占多数,这是由于与身材有关的各种偏差造成的。本稿件将评估在偏差最小化的情况下的性别分布:方法:对 3 至 16 岁被诊断为 GHD 的患者进行回顾性病历审查。根据以下指标确定病例的性别分布:(1)根据生长激素激发试验得出的各组峰值 GH (pGH),(2)垂体成像结果,(3)孤立性 GHD (IGHD) 与多发性垂体激素缺乏症 (MPHD)。根据这些分组比较了每种性别的相对频率,在α = .05水平上进行了显著性评估:在 5880 名因身材矮小而转诊的患者中,有 3709 名男孩(占 63%)和 2171 名女孩(占 37%)。其中 20% 的男孩(n = 745)和 15.3% 的女孩(n = 332)接受了 GHD 激发试验。在接受检测的人中,39.2% 的男孩(n = 292)和 32.2% 的女孩(n = 107)被诊断为 GHD,所有 p 均为结论:根据性别进行分层,我们发现男孩和女孩垂体成像异常(包括肿瘤)的百分比以及垂体激素缺乏的数量与导致 GHD 的原因相似。在这些分类中,我们没有发现历史报告中男性占主导地位的情况。
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引用次数: 0
Development and validation of a risk prediction model for preterm birth in women with gestational diabetes mellitus 妊娠糖尿病妇女早产风险预测模型的开发与验证。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-03-11 DOI: 10.1111/cen.15044
Hanbing Li, Lingling Gao, Xiao Yang, Lu Chen

Objectives

This study aims to develop and validate a prediction model for preterm birth in women with gestational diabetes mellitus (GDM).

Design

We conducted a retrospective study on women with GDM who gave birth at the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China, between November 2017 and July 2021. We divided 1879 patients into a development set (n = 1346) and a validation set (n = 533). The development set was used to construct the prediction model for preterm birth using the stepwise logistic regression model. A nomogram and a web calculator were established based on the model. Discrimination and calibration were assessed in both sets.

Patients and Measurements

Patients were women with GDM. Data were collected from medical records. GDM was diagnosed with 75-g oral glucose tolerance test during 24-28 gestational weeks. Preterm birth was definied as gestational age at birth <37 weeks.

Results

The incidence of preterm birth was 9.4%. The predictive model included age, assisted reproductive technology, hypertensive disorders of pregnancy, reproductive system inflammation, intrahepatic cholestasis of pregnancy, high-density lipoprotein, homocysteine, and fasting blood glucose of 75-g oral glucose tolerance test. The area under the receiver operating characteristic curve for the development and validation sets was 0.722 and 0.632, respectively. The model has been adequately calibrated using a calibration curve and the Hosmer–Lemeshow test, demonstrating a correlation between the predicted and observed risk.

Conclusion

This study presents a novel, validated risk model for preterm birth in pregnant women with GDM, providing an individualized risk estimation using clinical risk factors in the third trimester of pregnancy.

研究目的本研究旨在开发并验证妊娠期糖尿病(GDM)妇女早产预测模型:我们对2017年11月至2021年7月期间在中国广州中山大学附属第三医院分娩的GDM产妇进行了一项回顾性研究。我们将 1879 名患者分为开发集(n = 1346)和验证集(n = 533)。开发集采用逐步逻辑回归模型构建早产预测模型。根据该模型建立了提名图和网络计算器。对两组数据的辨别度和校准度进行了评估:患者为患有 GDM 的妇女。数据来自医疗记录。在 24-28 孕周期间通过 75 克口服葡萄糖耐量试验诊断为 GDM。早产定义为出生时的胎龄:早产发生率为 9.4%。预测模型包括年龄、辅助生殖技术、妊娠高血压疾病、生殖系统炎症、妊娠肝内胆汁淤积症、高密度脂蛋白、同型半胱氨酸和 75 克口服葡萄糖耐量试验的空腹血糖。开发集和验证集的接收器操作特征曲线下面积分别为 0.722 和 0.632。利用校准曲线和 Hosmer-Lemeshow 检验对模型进行了充分校准,结果表明预测风险与观察风险之间存在相关性:本研究提出了一种新型的、经过验证的 GDM 孕妇早产风险模型,利用妊娠三个月的临床风险因素提供个体化的风险评估。
{"title":"Development and validation of a risk prediction model for preterm birth in women with gestational diabetes mellitus","authors":"Hanbing Li,&nbsp;Lingling Gao,&nbsp;Xiao Yang,&nbsp;Lu Chen","doi":"10.1111/cen.15044","DOIUrl":"10.1111/cen.15044","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>This study aims to develop and validate a prediction model for preterm birth in women with gestational diabetes mellitus (GDM).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>We conducted a retrospective study on women with GDM who gave birth at the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China, between November 2017 and July 2021. We divided 1879 patients into a development set (<i>n</i> = 1346) and a validation set (<i>n</i> = 533). The development set was used to construct the prediction model for preterm birth using the stepwise logistic regression model. A nomogram and a web calculator were established based on the model. Discrimination and calibration were assessed in both sets.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients and Measurements</h3>\u0000 \u0000 <p>Patients were women with GDM. Data were collected from medical records. GDM was diagnosed with 75-g oral glucose tolerance test during 24-28 gestational weeks. Preterm birth was definied as gestational age at birth &lt;37 weeks.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The incidence of preterm birth was 9.4%. The predictive model included age, assisted reproductive technology, hypertensive disorders of pregnancy, reproductive system inflammation, intrahepatic cholestasis of pregnancy, high-density lipoprotein, homocysteine, and fasting blood glucose of 75-g oral glucose tolerance test. The area under the receiver operating characteristic curve for the development and validation sets was 0.722 and 0.632, respectively. The model has been adequately calibrated using a calibration curve and the Hosmer–Lemeshow test, demonstrating a correlation between the predicted and observed risk.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study presents a novel, validated risk model for preterm birth in pregnant women with GDM, providing an individualized risk estimation using clinical risk factors in the third trimester of pregnancy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140093520","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
Use of thyroid hormones in hypothyroid and euthyroid patients: A survey of members of the Endocrine Society of Australia 甲状腺功能减退和甲状腺功能亢进患者使用甲状腺激素的情况:澳大利亚内分泌学会成员调查。
IF 3.2 3区 医学 Q2 Medicine Pub Date : 2024-03-11 DOI: 10.1111/cen.15049
Nicole Lafontaine, Suzanne J. Brown, Petros Perros, Enrico Papini, Endre V. Nagy, Roberto Attanasio, Laszlo Hegedüs, John P. Walsh

Objective

Hypothyroidism is a common endocrine condition usually managed with levothyroxine (LT4). However, controversy remains around the use of liothyronine (LT3). We aimed to investigate the practices of Australian endocrinologists when managing patients with hypothyroidism, their use of LT3 + LT4 combination therapy and use of thyroid hormones in euthyroid patients.

Design and Participants

Members of the Endocrine Society of Australia (ESA) were invited to participate in an online questionnaire.

Measurements

We analysed questionnaires that had complete demographic data.

Results

Eighty-seven questionnaires fulfilled the criteria. LT4 was used as first line treatment for hypothyroidism by all respondents. Only 45% reported that their patients were dispensed the brand of LT4 that they recommend. LT3 (alone or in combination) was prescribed by 44% in their clinical practice. Although 49% of respondents would consider LT3 + LT4 in patients with normal TSH who had ongoing symptoms of hypothyroidism, the inability of LT4 to restore normal physiology was ranked the least likely explanation for persistent symptoms and only 32% would consider it for themselves if they were diagnosed with hypothyroidism. The majority (55%), in accordance with evidence, would not prescribe thyroid hormone to euthyroid individuals but 39% would consider use in euthyroid female infertility with high levels of thyroid antibodies and 11% in euthyroid patients with a simple goitre growing over time. LT4 use in pregnancy was variable among members.

Conclusions

Australian endocrinologists mostly follow international guidelines when prescribing thyroid hormone therapy and many prescribe combination LT3 and LT4 therapy, particularly for patients who remain symptomatic on LT4 monotherapy. Prescribing practices are largely similar to other countries who have completed similar questionnaires.

目的:甲状腺功能减退症是一种常见的内分泌疾病,通常使用左甲状腺素(LT4)进行治疗。然而,关于利甲腺原氨酸(LT3)的使用仍存在争议。我们旨在调查澳大利亚内分泌专家在管理甲状腺功能减退症患者时的做法、LT3+LT4联合疗法的使用情况以及甲状腺激素在甲状腺功能正常患者中的使用情况:邀请澳大利亚内分泌学会(ESA)成员参与在线问卷调查:我们对人口统计学数据完整的问卷进行了分析:结果:87份问卷符合标准。所有受访者都将LT4作为治疗甲减的一线疗法。只有 45% 的受访者表示,他们向患者配发了自己推荐的 LT4 品牌。44%的受访者在临床实践中处方了LT3(单独或联合用药)。尽管 49% 的受访者会考虑为 TSH 正常但有持续甲减症状的患者服用 LT3 + LT4,但 LT4 无法恢复正常生理机能被列为最不可能解释持续症状的原因,只有 32% 的受访者会在自己被诊断出患有甲减的情况下考虑服用 LT4。根据证据,大多数人(55%)不会为甲状腺功能正常者开具甲状腺激素处方,但39%的人会考虑在甲状腺抗体水平较高的甲状腺功能正常女性不孕症患者中使用甲状腺激素,11%的人会考虑在甲状腺肿长期增大的甲状腺功能正常患者中使用甲状腺激素。各成员在妊娠期使用LT4的情况不尽相同:结论:澳大利亚的内分泌专家在开具甲状腺激素治疗处方时大多遵循国际指南,许多专家开具了LT3和LT4联合疗法处方,尤其是针对接受LT4单药治疗后仍无症状的患者。澳大利亚内分泌医生在开具甲状腺激素治疗处方时大多遵循国际指南,许多医生会开具LT3和LT4联合疗法的处方,尤其是对接受LT4单药治疗仍有症状的患者。
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引用次数: 0
期刊
Clinical Endocrinology
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