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Nutritional Guidelines for Patients with Type 1 Diabetes Mellitus and its Adherence- A Narrative Review. 1 型糖尿病患者营养指南及其遵守情况--叙述性综述。
Pub Date : 2024-09-01 Epub Date: 2024-11-08 DOI: 10.4103/ijem.ijem_104_24
Anu Kaushik, Tejmeet K Rekhi, Seema Puri, Nikhil Tandon

Nutritional guidelines are of importance in directing food choices of T1D patients. The objective is to summarise existing nutritional recommendations and examine its adherence by T1D patients. Literature was searched on dietary guidelines in T1D using electronic databases PubMed, Science Direct, Scopus, Google Scholar, in English and 29 papers were selected. As per ADA, EASD, ISPAD, and ICMR guidelines, energy recommendations for T1D are based on ideal body weight to prevent overweight and obesity. The safe amounts of carbohydrates, protein and fat includes 50-55%, 15-20% and 25-30% of total energy respectively with fiber intake recommended at 20-30 g/day. Vitamin and mineral supplementation are beneficial in the presence of deficiency. Adherence to nutritional recommendations was suboptimal but better in those who were frequently consulting a dietician. As suboptimal dietary adherence leads to poor glycaemic control, nutritional guidelines must be followed to manage T1D and prevent or delay diabetic complications.

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引用次数: 0
The Burden of Diabetic Foot Ulcers in Urban India: A Community Healthcare Setup-Based Study. 印度城市糖尿病足溃疡的负担
Pub Date : 2024-09-01 Epub Date: 2023-06-30 DOI: 10.4103/ijem.ijem_346_22
Priti Patil, Satish Mishra, Anita Gadgil, Prashant Bhandarkar, Nobhojit Roy, Laxmi K Dwivedi

Introduction: Foot ulcer is the most common cause of hospitalisation among people with diabetes (PWD). The objective of the study is to determine the incidence of diabetic foot ulcers (DFUs) in the urban community in India and its relationship with glycemic level and demographic parameters like age and sex among diabetic patients.

Methods: A retrospective observational study was performed from January 2016 to December 2018 at an urban community set up in Mumbai. The study was conducted in a healthcare setting, providing lifelong contributory healthcare to beneficiaries of an employees' universal healthcare scheme. PWD from the community was identified using prescriptions of anti-diabetic medications. We identified patients with DFUs from electronic medical records from the hospital information system (HIS). The yearly incidence rate of DFU among PWD was estimated for the study period. The association between glycemic control and the demographic profile of patients with DFU was studied using binary logistic regression.

Results: The study documents the average incidence of 66 DFU patients among 10,000 PWD per year in the community. Logistic regression analysis showed higher odds for the elderly age group (OR 2.863) compared to lower age for developing DFU. Similarly, poor control (HbA1c >7%) over glycemic level has a higher chance (OR 1.713) of DFU than that of optimum glycemic control (HbA1c ≤7%). Among the DFU, 15.29% of patients required amputation during the study period.

Conclusion: The study documents the community-level incidence of DFUs among patients with diabetes. High glycemic levels and elderly age groups (≥60) are the associated risk factors for DFU.

足部溃疡是糖尿病患者最常见的住院原因。本研究的目的是确定印度城市社区糖尿病足溃疡(DFUs)的发病率及其与糖尿病患者血糖水平和年龄、性别等人口统计学参数的关系。2016年1月至2018年12月,在孟买建立的一个城市社区进行了一项回顾性观察研究。该研究是在医疗保健环境中进行的,为雇员普遍医疗保健计划的受益人提供终身缴费医疗保健。使用抗糖尿病药物处方来确定社区的PWD。我们从医院信息系统(HIS)的电子病历中识别出患有DFUs的患者。估计研究期间PWD中DFU的年发病率。使用二元逻辑回归研究血糖控制与DFU患者人口统计学特征之间的关系。该研究记录了社区每年10,000名PWD患者中66名DFU患者的平均发病率。Logistic回归分析显示,与低年龄组相比,老年组发生DFU的几率更高(OR 2.863)。同样,血糖控制不良(HbA1c >7%)的患者发生DFU的几率(OR = 1.713)高于血糖控制良好(HbA1c≤7%)的患者。在DFU患者中,15.29%的患者在研究期间需要截肢。该研究记录了糖尿病患者中dfu的社区发生率。高血糖水平和老年年龄组(≥60岁)是DFU的相关危险因素。
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引用次数: 0
Higher Body Mass Index is Associated with Increased Oxidative Stress in Patients of Type 2 Diabetes Mellitus.
Pub Date : 2024-09-01 Epub Date: 2024-09-04 DOI: 10.4103/ijem.ijem_474_23
Edelbert A Almeida, Mohit Mehndiratta, Sri V Madhu, Rajarshi Kar

Introduction: Type 2 diabetes mellitus (T2DM) is closely associated with the obesity; however, certain proportion of T2DM patients is non-obese or lean (BMI < 18.5 kg/m2). Obesity has long been associated with oxidative stress; however, there are no studies available documenting levels of oxidative stress in the lean patients of T2DM. Therefore, this study was done to compare the levels of makers of oxidative stress (TL, mtDNA, TAS) and their regulators (mRNA expression of TERT, Nrf2 and Nqo1) in lean and obese patients of T2DM.

Methods: 60 newly diagnosed patients (treatment naïve) of T2DM were recruited and divided into lean (BMI < 18.5 kg/m2) and obese (BMI > 25 kg/m2) groups. Relative telomere length (T/S) and mtDNA content were estimated via real-time PCR. Serum total antioxidant status (TAS) was measured using a commercially available kit. mRNA expression of TERT, Nrf2 and Nqo1 was measured by real-time PCR.

Results: Mean T/S and mtDNA content were lower in the obese group compared to the lean group (P = 0.16 and P = 0.06, respectively). Mean serum TAS levels were higher in obese group compared to the lean group (P = 0.001). mRNA expression of TERT and Nrf2 was increased in obese group compared to the lean group. mRNA expression of Nqo1 was similar in both the groups.

Conclusion: Obese patients of T2DM are exposed to a greater degree of OS compared to the lean patients of T2DM.

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引用次数: 0
Retraction: Prevalence of Testosterone Deficiency in Elderly Male and its Association with Frailty and Mobility at a Tertiary Care Centre. 撤回:一家三级医疗中心男性老年人睾酮缺乏症的患病率及其与虚弱和行动不便的关系
Pub Date : 2024-09-01 Epub Date: 2024-11-08 DOI: 10.4103/ijem.ijem_305_24

[This retracts the article on p. 589 in vol. 26.].

[这收回了第 26 卷第 589 页的文章]。
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引用次数: 0
Role of Growth Hormone Therapy in Metabolic-Dysfunction-Associated Steatotic Liver Disease: A Systematic Review and Meta-Analysis. 生长激素疗法在代谢功能障碍相关性脂肪肝中的作用:系统综述与元分析》。
Pub Date : 2024-07-01 Epub Date: 2024-08-28 DOI: 10.4103/ijem.ijem_488_23
Deep Dutta, Lakshmi Nagendra, Ritin Mohindra, Saptarshi Bhattacharya, Ameya Joshi, Abm Kamrul-Hasan

Multiple observation studies and meta-analysis have linked growth hormone (GH) deficiency with metabolic-dysfunction-associated steatotic liver disease (MASLD). No meta-analysis has analysed the efficacy and safety of GH therapy on different aspects of MASLD. We undertook this meta-analysis to address this gap in knowledge. Electronic databases were searched for RCTs involving patients with MASLD receiving GH therapy. Primary outcome was to evaluate changes in radiologic measures of MASLD (magnetic resonance spectroscopy (MRS) and ultrasonography) and liver enzymes. Secondary outcomes were to evaluate alterations in body composition parameters [dual-energy X-ray absorptiometry (DXA)], lipids, glycaemia and side effects. From initially searched 1047 articles, data from three RCTs (120 patients) which fulfilled all criteria were analysed. After 6 months of GH therapy in MASLD, the per cent reduction in intrahepatic lipid (MRS) was significantly higher with GH as compared to placebo [MD -5.85% (95%CI:-11.41- -0.30); P = 0.04; I2 = 63%]. Visceral adipose tissue (VAT) area reduction (DXA) was significantly higher with GH [MD-9.94 cm2 (95%CI:-19.04- -0.84); P = 0.03; I2 = 0%]. Serum insulin-like growth factor-1 (IGF-1) was significantly raised in MASLD patients receiving GH as compared to placebo [MD +166.86 ng/ml (95%CI: 79.19-254.53); P < 0.0.001; I2 = 90%]. High-sensitivity C-reactive protein (hsCRP) was significantly lower in patients receiving GH [MD -0.89 mg/L (95%CI:-1.40--0.38); P = 0.0.0006; I2 = 0%]. Patients receiving GH had similar changes in triglycerides [MD-1.06 mg/L (95%CI:-20.45-18.34); P = 0.91; I2 = 15%] and fasting glucose [MD -0.56 mg/L (95%CI:-4.67-3.55); P = 0.79; I2 = 39%]. Gamma-glutamyl transpeptidase was significantly lower in patients receiving GH [MD -7.86 U/L (95%CI:-12.46--3.27); P = 0.0008; I2 = 0%]. No increase in new-onset hypothyroidism was noted [OR 5.49 (95%CI: 0.25-121.18); P = 0.28]. Short-term 6-month GH therapy in MASLD is associated with a significant reduction in intrahepatic lipid content, visceral adiposity, GGT and hsCRP without any increased occurrence of dysglycaemia or hypothyroidism.

多项观察研究和荟萃分析显示,生长激素(GH)缺乏症与代谢功能障碍相关性脂肪肝(MASLD)有关。目前还没有荟萃分析对生长激素疗法在 MASLD 不同方面的疗效和安全性进行分析。为了填补这一知识空白,我们进行了这项荟萃分析。我们在电子数据库中搜索了涉及接受 GH 治疗的 MASLD 患者的 RCT。主要结果是评估MASLD的放射学指标(磁共振波谱(MRS)和超声波检查)和肝酶的变化。次要结果是评估身体成分参数[双能X射线吸收测定法(DXA)]、血脂、糖血症和副作用的变化。在初步检索的 1047 篇文章中,对符合所有标准的三项 RCT(120 名患者)的数据进行了分析。MASLD患者在接受6个月的GH治疗后,肝内脂质(MRS)降低的百分比与安慰剂相比明显更高[MD -5.85% (95%CI:-11.41- -0.30);P = 0.04;I2 = 63%]。内脏脂肪组织(VAT)面积减少(DXA)明显高于 GH [MD-9.94 cm2 (95%CI:-19.04- -0.84);P = 0.03;I2 = 0%]。与安慰剂相比,接受 GH 治疗的 MASLD 患者血清胰岛素样生长因子-1(IGF-1)明显升高 [MD +166.86 ng/ml (95%CI: 79.19-254.53); P < 0.0.001; I2 = 90%]。接受 GH 治疗的患者的高敏 C 反应蛋白(hsCRP)显著降低[MD -0.89 mg/L (95%CI:-1.40--0.38); P = 0.0.0006; I2 = 0%]。接受 GH 治疗的患者甘油三酯[MD-1.06 mg/L (95%CI:-20.45-18.34); P = 0.91; I2 = 15%]和空腹血糖[MD -0.56 mg/L (95%CI:-4.67-3.55); P = 0.79; I2 = 39%]的变化相似。接受 GH 治疗的患者γ-谷氨酰转肽酶明显降低[MD -7.86 U/L (95%CI:-12.46--3.27); P = 0.0008; I2 = 0%]。未发现新发甲状腺功能减退症增加[OR 5.49(95%CI:0.25-121.18);P = 0.28]。对 MASLD 进行为期 6 个月的短期 GH 治疗可显著降低肝内脂质含量、内脏脂肪含量、GGT 和 hsCRP,而不会增加血糖异常或甲状腺功能减退的发生率。
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引用次数: 0
Prevalence and Clinical Course of Water and Electrolyte Disturbances Following Transsphenoidal Pituitary Adenoma Surgery in Immediate and Early Postoperative Period: A Prospective Observational Study. 经蝶垂体腺瘤手术后水和电解质紊乱在术后初期的发生率和临床表现:一项前瞻性观察研究。
Pub Date : 2024-07-01 Epub Date: 2024-08-28 DOI: 10.4103/ijem.ijem_79_24
Shivendu Bhardwaj, Awadhesh K Jaiswal, Subhash C Yadav, Devendra Gupta, Rajanikant Yadav, Alok P Singh, Eesh Bhatia

Introduction: Transsphenoidal pituitary adenoma surgery (TSS) was commonly associated with water and electrolyte disturbances (WEDs) in the postoperative period, which could lead to prolonged hospital stay, readmission and is rarely life threatening. The present study aimed to investigate the prevalence and predictive factors of WEDs following TSS.

Methods: Fifty-eight patients with pituitary adenoma were prospectively studied for the occurrence of WEDs. Patients were checked at 6 weeks postoperatively for persistence of diabetes insipidus and new-onset hormone deficiencies or recovery. Multivariate regression was applied to determine predictive factors for the occurrence of WEDs.

Results: A total of 58 patients underwent TSS (median age: 43 years, 66% male). In the immediate postoperative period, 16 (27.6%) had transient diabetes insipidus (DI), two (3%) had transient DI followed by syndrome of inappropriate antidiuretic hormone (SIADH), five (8.6%) had isolated SIADH, five (8.6%) had persistent DI and only one patient had a triple-phase response. At 6 weeks, five (11%) patients continued to have persistent DI. In multivariate analysis, apoplexy and duration of surgery were predictive of DI occurrence. Recovery rate at 6 weeks was 11.1%, 13% and 9.3% for cortisol, thyroid and gonad axis, respectively. New-onset hormone deficiencies at 6 weeks were 5.6%, 5.6% and 7.4% for cortisol, thyroid and gonad axis, respectively.

Conclusions: WEDs remain an important concern post-TSS. Timely follow-up should always be integral part of postoperative care for early diagnosis of new hormone deficiencies and avoiding unnecessary treatment in those with recovered axis.

导言经蝶垂体腺瘤手术(TSS)通常与术后水和电解质紊乱(WEDs)有关,WEDs可导致住院时间延长、再次入院,很少危及生命。本研究旨在调查 TSS 术后水电解质紊乱的发生率和预测因素:对58名垂体腺瘤患者进行了WEDs发生率的前瞻性研究。在术后6周对患者进行检查,以确定是否存在持续性尿崩症和新出现的激素缺乏或恢复情况。采用多变量回归法确定发生 WEDs 的预测因素:共有 58 名患者接受了 TSS(中位年龄:43 岁,66% 为男性)。术后初期,16 名患者(27.6%)出现一过性糖尿病性尿崩症(DI),2 名患者(3%)出现一过性糖尿病性尿崩症后又出现抗利尿激素不当综合征(SIADH),5 名患者(8.6%)出现孤立性 SIADH,5 名患者(8.6%)出现持续性糖尿病性尿崩症,只有 1 名患者出现三相反应。6 周后,仍有 5 名患者(11%)持续出现 DI。在多变量分析中,脑积水和手术持续时间可预测DI的发生。6周时,皮质醇、甲状腺和性腺轴的恢复率分别为11.1%、13%和9.3%。6周时,皮质醇、甲状腺和性腺轴的新发激素缺乏率分别为5.6%、5.6%和7.4%:WED仍是TSS后的一个重要问题。及时随访应始终是术后护理不可或缺的一部分,以便及早诊断新的激素缺乏症,避免对轴功能恢复者进行不必要的治疗。
{"title":"Prevalence and Clinical Course of Water and Electrolyte Disturbances Following Transsphenoidal Pituitary Adenoma Surgery in Immediate and Early Postoperative Period: A Prospective Observational Study.","authors":"Shivendu Bhardwaj, Awadhesh K Jaiswal, Subhash C Yadav, Devendra Gupta, Rajanikant Yadav, Alok P Singh, Eesh Bhatia","doi":"10.4103/ijem.ijem_79_24","DOIUrl":"10.4103/ijem.ijem_79_24","url":null,"abstract":"<p><strong>Introduction: </strong>Transsphenoidal pituitary adenoma surgery (TSS) was commonly associated with water and electrolyte disturbances (WEDs) in the postoperative period, which could lead to prolonged hospital stay, readmission and is rarely life threatening. The present study aimed to investigate the prevalence and predictive factors of WEDs following TSS.</p><p><strong>Methods: </strong>Fifty-eight patients with pituitary adenoma were prospectively studied for the occurrence of WEDs. Patients were checked at 6 weeks postoperatively for persistence of diabetes insipidus and new-onset hormone deficiencies or recovery. Multivariate regression was applied to determine predictive factors for the occurrence of WEDs.</p><p><strong>Results: </strong>A total of 58 patients underwent TSS (median age: 43 years, 66% male). In the immediate postoperative period, 16 (27.6%) had transient diabetes insipidus (DI), two (3%) had transient DI followed by syndrome of inappropriate antidiuretic hormone (SIADH), five (8.6%) had isolated SIADH, five (8.6%) had persistent DI and only one patient had a triple-phase response. At 6 weeks, five (11%) patients continued to have persistent DI. In multivariate analysis, apoplexy and duration of surgery were predictive of DI occurrence. Recovery rate at 6 weeks was 11.1%, 13% and 9.3% for cortisol, thyroid and gonad axis, respectively. New-onset hormone deficiencies at 6 weeks were 5.6%, 5.6% and 7.4% for cortisol, thyroid and gonad axis, respectively.</p><p><strong>Conclusions: </strong>WEDs remain an important concern post-TSS. Timely follow-up should always be integral part of postoperative care for early diagnosis of new hormone deficiencies and avoiding unnecessary treatment in those with recovered axis.</p>","PeriodicalId":13353,"journal":{"name":"Indian Journal of Endocrinology and Metabolism","volume":"28 4","pages":"370-377"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142380733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy and Safety of Levoketoconazole in Managing Cushing's Syndrome: A Systematic Review. 左旋酮康唑治疗库欣综合征的有效性和安全性:系统回顾
Pub Date : 2024-07-01 Epub Date: 2024-08-28 DOI: 10.4103/ijem.ijem_477_23
Shinjan Patra, Deep Dutta, Lakshmi Nagendra, Nishant Raizada

No systematic review has holistically analysed the efficacy and safety of levoketoconazole, a novel purified 2S,4R enantiomer of ketoconazole, believed to be 15- to 25-fold more potent than ketoconazole for managing Cushing's syndrome (CS). We undertook this meta-analysis to address this knowledge gap. Electronic databases were searched for studies involving patients with CS receiving levoketoconazole in the intervention arm. The primary outcome was to evaluate changes in mean 24-hour urine-free cortisol (mUFC) levels. Secondary outcomes were to evaluate alterations in cortisol and adverse events. SONICS study showed that normalisation of mUFC was seen in 61%, 55%, and 41% of the patients at the end of 6, 9, and 12 months therapy, respectively. The LOGICs study showed that withdrawal of levoketoconazole was associated with a significant increase in mUFC from 81.3 ± 35.7 to 220.8 ± 333.5 nmol/24h. The late-night salivary-cortisol (LNSC) increase during the drug withdrawal phase was 2.6 nmol/L in the placebo group (PG) compared to 2.2 nmol/L in the levoketoconazole group (LG) (P < 0.05). Re-initiation of levoketoconazole in original LG was associated with a decrease in mUFC from 224.3 ± 341.3 to 135.6 ± 87.3 nmol/24h. Initiation of levoketoconazole in the original PG was associated with a decrease in mUFC from 537.9 ± 346.0 to 141.3 ± 130.3 nmol/24h. Normalisation of mUFC was observed in 50.0% patients in LG compared to 4.5% in the placebo group. The median time for the response was 25 days. The median time to loss of therapeutic response was significantly shorter for PG (24 days) compared to LG (62 days) (P < 0.0001). Levoketoconazole has good efficacy and safety in CS. Bigger and longer studies are warranted to establish its superiority over ketoconazole.

左旋酮康唑是酮康唑的一种新型纯化2S,4R对映体,据信其治疗库欣综合征(CS)的疗效比酮康唑强15至25倍,但目前还没有系统性综述全面分析过左旋酮康唑的疗效和安全性。为了填补这一知识空白,我们进行了这项荟萃分析。我们在电子数据库中搜索了涉及在干预组中接受左旋酮康唑治疗的库欣综合征患者的研究。主要结果是评估 24 小时平均无尿皮质醇(mUFC)水平的变化。次要结果是评估皮质醇和不良事件的变化。SONICS 研究显示,在治疗 6 个月、9 个月和 12 个月结束时,分别有 61%、55% 和 41% 的患者 mUFC 水平恢复正常。LOGICs 研究表明,停用左旋酮康唑会导致 mUFC 从 81.3 ± 35.7 nmol/24h 显著升高至 220.8 ± 333.5 nmol/24h。在停药阶段,安慰剂组(PG)的深夜唾液皮质醇(LNSC)增幅为 2.6 nmol/L,而左旋酮康唑组(LG)为 2.2 nmol/L(P < 0.05)。在原来的 LG 组重新开始使用左旋酮康唑后,mUFC 从 224.3 ± 341.3 nmol/24h 降至 135.6 ± 87.3 nmol/24h。在原始 PG 中开始使用左旋酮康唑后,mUFC 从 537.9 ± 346.0 降至 141.3 ± 130.3 nmol/24h。50.0% 的 LG 患者的 mUFC 恢复正常,而安慰剂组仅为 4.5%。出现反应的中位时间为 25 天。与 LG(62 天)相比,PG(24 天)治疗反应消失的中位时间明显更短(P < 0.0001)。左旋酮康唑对 CS 具有良好的疗效和安全性。要确定其优于酮康唑,还需要进行更大规模、更长时间的研究。
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引用次数: 0
A Man with Klinefelter's Syndrome having Normal Stature. 一名患有 Klinefelter 综合症的男子身材正常。
Pub Date : 2024-07-01 Epub Date: 2024-08-28 DOI: 10.4103/ijem.ijem_33_23
Mohammad M Shahid, Sharmin Ferdousi
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引用次数: 0
Diet in Thyroid Disorders: A Survey among Clinicians and a Review of the Current Perspective. 甲状腺疾病的饮食:临床医生调查和当前观点综述。
Pub Date : 2024-07-01 Epub Date: 2024-05-29 DOI: 10.4103/ijem.ijem_68_24
Awadhesh Kumar Singh, Subhankar Chatterjee, Akriti Singh, Rana Bhattacharjee

Physicians and endocrinologists commonly face various questions related to dietary interventions during clinical encounters with their patients with thyroid disorders. Indeed, both patients and treating physicians have various misconceptions regarding thyroid-specific diets, possibly because of misinformation circulated in lay media or grey literature and the misinterpretation of contradictory scientific data, respectively. In this review, we attempted to answer some frequently asked questions by the patients in the backdrop of contraindicatory perceptions of physicians observed in our survey. Additionally, we tried to put a perspective on dietary factors related to thyroid disorders through the available scientific evidence to help make an informed decision-making.

在与甲状腺疾病患者的临床接触中,医生和内分泌专家通常会遇到各种与饮食干预相关的问题。事实上,患者和主治医生对甲状腺特异性饮食都存在各种误解,这可能分别是由于非专业媒体或灰色文献中流传的错误信息以及对相互矛盾的科学数据的误读。在这篇综述中,我们试图以调查中观察到的医生的禁忌观念为背景,回答患者经常提出的一些问题。此外,我们还试图通过现有的科学证据来透视与甲状腺疾病相关的饮食因素,以帮助患者做出明智的决策。
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引用次数: 0
Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam. 出生时性别分配的差异和性别发育差异的病因诊断:来自阿萨姆邦的十年机构经验。
Pub Date : 2024-07-01 Epub Date: 2024-08-28 DOI: 10.4103/ijem.ijem_385_23
Praveen Nagarajaiah, Ashok K Bhuyan, Abhamoni Baro, Uma K Saikia

Introduction: Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD in Assam and the variability of sex assignment at birth.

Methods: This retrospective study included the records of people with DSD presenting to a tertiary centre over 10 years. The age at presentation, sex assignment, gender identity, degree of ambiguity, pertinent hormonal and radiological investigations were noted. Descriptive statistics were used for analysis.

Results: The age of presentation varied widely, with peaks during infancy and puberty. The most prevalent DSD type was 46, XY DSD (61.2%), followed by 46, XX DSD (19.7%) and sex chromosome DSD (19.1%). Among people with 46, XY DSD, androgen biosynthesis disorders were dominant, particularly 5-a reductase 2 deficiency (46.7%). Among 46, XX DSDs, the most common subtype was androgen excess disorders (51.7%) comprising 21a-hydroxylase deficiency (48,3%) and 11β-hydroxylase deficiency (3.4%). Turner syndrome was most prevalent among sex chromosome DSD (71.4%) with others being Klinefelter syndrome, 45, XO/46, XY mixed gonadal dysgenesis and 46, XX/46, XY chimerism. The degree of ambiguity was variable depending on the type of DSD and similarly, sex assignment at birth was influenced by the level of ambiguity.

Conclusion: The study underscores the significance of comprehensive approaches for DSD diagnosis and management, especially in regions with limited resources. The insights gained from this clinical study offer valuable understanding and aid in addressing the complexities associated with these conditions.

简介性别发育差异(DSD)又称性别发育障碍,包括多种疾病,不同年龄段的临床表现各不相同。本研究旨在分析阿萨姆邦 DSD 的各种病因以及出生时性别分配的差异性:这项回顾性研究包括 10 年来在一家三级中心就诊的 DSD 患者的病历。研究记录了患者的发病年龄、性别分配、性别认同、模糊程度、相关激素和放射学检查。分析采用了描述性统计方法:结果:发病年龄差异很大,高峰期在婴儿期和青春期。最常见的DSD类型是46, XY DSD(61.2%),其次是46, XX DSD(19.7%)和性染色体DSD(19.1%)。在 46 XY DSD 患者中,雄激素生物合成障碍占主导地位,尤其是 5-a 还原酶 2 缺乏症(46.7%)。在 46 XX DSD 患者中,最常见的亚型是雄激素过多症(51.7%),包括 21a- 羟化酶缺乏症(48.3%)和 11β- 羟化酶缺乏症(3.4%)。在性染色体 DSD 中,特纳综合征最为常见(71.4%),其他还有克莱因费尔特综合征、45、XO/46、XY 混合性性腺发育不良和 46、XX/46、XY 嵌合症。DSD的类型不同,其不明确程度也不同,同样,出生时的性别分配也受不明确程度的影响:本研究强调了采用综合方法诊断和管理 DSD 的重要性,尤其是在资源有限的地区。从这项临床研究中获得的启示为理解和解决与这些疾病相关的复杂问题提供了宝贵的帮助。
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引用次数: 0
期刊
Indian Journal of Endocrinology and Metabolism
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