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Empowering Health Care Providers and Self-management Education in Diabetes? A Scoping Review. 授权医疗保健提供者和糖尿病自我管理教育?范围审查。
IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2021-07-19 eCollection Date: 2021-07-01 DOI: 10.5812/ijem.111765
Maryam Aalaa, Shahnaz Esmaeili, Hossein Yarmohammadi, Mahnaz Sanjari, Hossein Adibi, Ensieh Nasli-Esfahani

Context: There has been an increasing emphasis on the role of education in diabetes prevention and management, and shedding light on evidence gaps is mandatory for national action plans establishment.

Data sources: This scoping review was part of the Iranian Diabetes Road Map project that used a systematic method based on the Arksey and O'Malley approach.

Results: After the screening, 173 articles were included, most of which were published in 2018 and focused on self-management. Most included articles were considered patient-related self-management/care/efficacy, while only a limited number of articles studied healthcare provider education and educational establishment. Additionally, a significant number of included studies were addressed virtual education, an issue as the strength of Iranian studies in diabetes education.

Conclusions: Education is an important part of diabetes, and specific needs for Iranian patients should be addressed in future studies. Paying attention to new topics and conducting high-quality interventional studies will help fill evidence gaps in this field in Iran.

背景:人们越来越强调教育在糖尿病预防和管理中的作用,阐明证据差距是制定国家行动计划的必要条件。数据来源:这项范围审查是伊朗糖尿病路线图项目的一部分,该项目使用了基于Arksey和O'Malley方法的系统方法。结果:经筛选,共纳入173篇文献,其中大部分发表于2018年,以自我管理为主。大多数纳入的文章被认为是与患者相关的自我管理/护理/疗效,而只有有限数量的文章研究了医疗保健提供者教育和教育机构。此外,大量纳入的研究涉及虚拟教育,这是伊朗糖尿病教育研究的优势所在。结论:教育是糖尿病的重要组成部分,在未来的研究中应解决伊朗患者的特殊需求。关注新主题并开展高质量的干涉性研究将有助于填补伊朗这一领域的证据空白。
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引用次数: 0
References and Citations: Is It Time to Update Their Format? 参考文献和引文:是时候更新格式了吗?
IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2021-07-13 eCollection Date: 2021-07-01 DOI: 10.5812/ijem.116404
Sai Krishna Gudi, Komal Krishna Tiwari, Rahamthulla Shaik
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引用次数: 0
The Associations Between Serum Concentrations of Irisin and Glucose-dependent Insulinotropic Polypeptide with Body Mass Index Among Women with and Without Polycystic Ovary Syndrome. 有或无多囊卵巢综合征妇女血清鸢尾素和葡萄糖依赖性胰岛素多肽浓度与体重指数的关系
IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2021-05-31 eCollection Date: 2021-10-01 DOI: 10.5812/ijem.111914
Samira Behboudi-Gandevani, Mehdi Hedayati, Mohammad Ali Mansournia, Maryam Nazemipour, Maryam Rahmati, Fahimeh Ramezani Tehrani

Background: The actions of adipocytokines may be a connective factor between obesity and polycystic ovary syndrome (PCOS). It is suggested that irisin, as recently described cytokine secreted by skeletal muscles and glucose-dependent insulinotropic polypeptide (GIP) as an incretin hormone that induces cytokine expression, may play key roles in favoring obesity in these women.

Objectives: We aimed to evaluate the association between body mass index (BMI) and serum concentrations of irisin/GIP in women with and without PCOS in the linear and non-linear models.

Methods: This cross-sectional study was conducted among 159 PCOS and 82 healthy eumenorrheic non-hirsute women aged 20 - 50 years. The fractional-polynomial model was used to develop a model of continuous risk factors, which evaluates non-linear associations between irisin/GIP and BMI among women with and without PCOS.

Results: Women with PCOS were significantly younger (28.2 ± 5.8 vs. 33.0 ± 7.8 years, P < 0.001) and had a greater BMI (26.6 ± 5.2 vs. 25.2 ± 4.8 kg/m2, P = 0.04) than the healthy counterparts. There were no significant linear and non-linear associations between serum concentration of irisin/GIP and BMI in both groups. The analysis of pair-wise age and BMI matching of women with PCOS and controls confirmed these findings.

Conclusions: This study showed that irisin and GIP have no association with BMI in women with or without PCOS. This finding could help to better understand the underlying pathophysiological status of PCOS, insulin resistance, and obesity-related disorders. Further large cohort studies are needed to confirm these findings.

背景:脂肪细胞因子的作用可能是肥胖与多囊卵巢综合征(PCOS)之间的关联因素。研究表明,鸢尾素作为骨骼肌分泌的细胞因子和葡萄糖依赖型胰岛素多肽(GIP)作为一种诱导细胞因子表达的肠促胰岛素激素,可能在这些女性的肥胖中起关键作用。目的:我们的目的是在线性和非线性模型中评估患有和不患有PCOS的女性体重指数(BMI)与血清中鸢尾素/GIP浓度之间的关系。方法:对159名多囊卵巢综合征女性和82名20 ~ 50岁健康无多毛绝经期女性进行横断面研究。采用分数-多项式模型建立连续危险因素模型,评估有PCOS和无PCOS女性中鸢尾素/GIP与BMI之间的非线性关联。结果:PCOS女性明显比健康女性年轻(28.2±5.8岁比33.0±7.8岁,P < 0.001), BMI高于健康女性(26.6±5.2比25.2±4.8 kg/m2, P = 0.04)。两组患者血清中鸢尾素/GIP浓度与BMI之间均无显著的线性和非线性关联。对多囊卵巢综合征女性和对照组的年龄和BMI配对分析证实了这些发现。结论:本研究表明,鸢尾素和GIP与患有或不患有PCOS的女性的BMI无关。这一发现有助于更好地了解多囊卵巢综合征、胰岛素抵抗和肥胖相关疾病的潜在病理生理状态。需要进一步的大型队列研究来证实这些发现。
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引用次数: 0
A Case Report of ROHHAD Syndrome in an 8-year-old Iranian Boy. 伊朗8岁男童ROHHAD综合征1例报告。
IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2021-05-22 eCollection Date: 2021-07-01 DOI: 10.5812/ijem.111571
Abolfazl Amjadipour, Lobat Shahkar, Faridreza Hanafi

Introduction: Rapid-onset obesity concurrently with hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) is an uncommon disease that presents with multiorgan disorders during early childhood, with fewer than 100 cases reported around the world. We aim to present a case of ROHHAD syndrome admitting with rare neurologic symptoms. We also present our treatment regimen.

Case presentation: An 8-year-old boy was admitted to our department with ataxia and gait disturbance that led us to the final diagnosis after a thorough investigation. He had multiple admissions and was treated for other diagnoses. His first symptoms started from age 5 with obstructive apnea. He underwent an adenectomy surgery at that time, but the symptoms continued. A year after the surgery, he was admitted again due to his somnolence but was diagnosed only with hypothyroidism and anemia. At the age of 7 years and 8 months, he was admitted to our department with ataxia and abnormal gait from the past year with instability and numerous falls. He also had shown hyperphagia that had been resulted in 10 kilograms of weight gain in six months. He was experiencing gradual behavioral symptoms, including episodes of self and hetero aggression and impulsivity. His other symptoms included fatigue, somnolence, gastrointestinal dysmotility, hyperhidrosis, central hypothyroidism, polyuria, precocious puberty, and rapid obesity. His laboratory investigation revealed hyperprolactinemia.

Conclusions: Our case indicates that ROHHAD is a complex disease with divergent signs and symptoms that needs to be kept in mind for diagnosis and should be treated with a high level of collaboration of various medical specialties. Since late diagnosis of this syndrome leads to a magnificent increase in morbidity and mortality rates, it is vital to pay extreme attention to this syndrome. The diagnosis should be considered even more in children over two years old with rapid-onset obesity, which is accompanied by other symptoms. Here, our patient's complaint was ataxia that revealed the underlying cause after investigation.

快速发作性肥胖并发低通气、下丘脑、自主神经失调(ROHHAD)是一种罕见的疾病,在儿童早期表现为多器官疾病,世界范围内报道的病例不到100例。我们的目的是提出一个病例ROHHAD综合征承认与罕见的神经系统症状。我们还介绍了我们的治疗方案。病例介绍:一名8岁男孩因共济失调和步态障碍入院,经过彻底的调查后,我们对其进行了最终诊断。他多次入院,并接受了其他诊断的治疗。他的第一个症状始于5岁患有阻塞性呼吸暂停他当时接受了腺切除手术,但症状仍在继续。手术一年后,他再次因嗜睡而入院,但被诊断为甲状腺功能减退和贫血。在7岁零8个月时,他因过去一年的共济失调和步态异常而入院,伴有不稳定和多次跌倒。他还表现出贪食症,在6个月内体重增加了10公斤。他正在经历逐渐的行为症状,包括自我和异性攻击和冲动的发作。他的其他症状包括疲劳、嗜睡、胃肠运动障碍、多汗症、中枢性甲状腺功能减退、多尿、性早熟和快速肥胖。他的实验室检查显示高泌乳素血症。结论:本病例提示ROHHAD是一种体征和症状多样的复杂疾病,在诊断时应牢记于心,应在各医学专业的高度合作下治疗。由于这一综合征的晚期诊断导致发病率和死亡率的大幅增加,因此对这一综合征给予高度重视至关重要。对于两岁以上伴有其他症状的速发性肥胖儿童,更应考虑诊断。在这里,我们的病人的主诉是共济失调,在调查后发现了潜在的原因。
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引用次数: 1
Longer Time to Reach Excellent Response to Treatment in Familial Versus Sporadic Non-medullary Thyroid Cancer (NMTC): A Matched Case-Control Study. 家族性与散发性非髓样甲状腺癌(NMTC)较长时间达到良好的治疗反应:一项匹配的病例对照研究
IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2021-05-11 eCollection Date: 2021-04-01 DOI: 10.5812/ijem.108781
Susan Shafiei, Mehrdokht Sadrolodabaei, Atena Aghaei, Narjess Ayati, Samira Zare Namdar, Donya Hemati, Seyed Rasoul Zakavi

Background: Familial non-medullary thyroid cancer (NMTC) are supposed to be more aggressive and require more frequent treatment compared to non-familial thyroid cancer.

Objectives: This matched case-control study aimed to compare the response to treatment between the matched case-control groups of familial and sporadic NMTC.

Methods: This is a retrospective study in patients with familial NMTC (at least one other first-degree relative involved) who were treated with surgery, followed by radio-iodine therapy (RIT) without consideration of its familial origin. Response to treatment was compared between familial NMTC and age, sex, and TNM stage-matched non-familial NMTC (control group). Response to treatment was assessed one and two years after RIT, and time to excellent response was identified.

Results: Out of 2,944 NMTC patients, 81 (2.75%) patients had familial NMTC. We compared 66 patients with familial NMTC and 66 sporadic NMTC patients. There was no significant difference in first thyroglobulin, initial and accumulative iodine dose, and additional treatments (additional surgery and radiotherapy) between patients and controls. Although no significant difference was noted in one and two years' responses to treatment between the case and control groups, familial NMTC patients required more time to achieve excellent response (26.7 ± 24.9 versus 15.9 ± 9.0 months, P = 0.01). No significant difference was noted between familial NMTC patients with two or more than two involved relatives.

Conclusions: Our study showed that if patients with familial NMTCs were treated in the same way as non-familial patients, the time to excellent response would be significantly longer, even when they have only one other involved relative.

背景:家族性非髓样甲状腺癌(NMTC)被认为比非家族性甲状腺癌更具侵袭性,需要更频繁的治疗。目的:本配对病例对照研究旨在比较家族性和散发性NMTC配对病例对照组之间的治疗反应。方法:这是一项回顾性研究,对家族性NMTC患者(至少有一个其他一级亲属参与)进行手术治疗,然后进行放射性碘治疗(RIT),而不考虑其家族起源。比较家族性NMTC与年龄、性别和TNM分期匹配的非家族性NMTC(对照组)对治疗的反应。RIT后1年和2年评估对治疗的反应,并确定达到良好反应的时间。结果:2944例NMTC患者中,81例(2.75%)为家族性NMTC。我们比较了66例家族性NMTC和66例散发性NMTC患者。患者和对照组在首次甲状腺球蛋白、初始和累积碘剂量以及附加治疗(附加手术和放疗)方面无显著差异。尽管病例组和对照组在1年和2年的治疗反应上没有显著差异,但家族性NMTC患者需要更多的时间才能达到优异的疗效(26.7±24.9个月比15.9±9.0个月,P = 0.01)。有两个或两个以上亲属的家族性NMTC患者之间无显著差异。结论:我们的研究表明,如果家族性NMTCs患者与非家族性NMTCs患者采用相同的治疗方法,即使他们只有一个其他相关亲属,获得良好反应的时间也会明显更长。
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引用次数: 0
Common Limitations and Challenges of Dietary Clinical Trials for Translation into Clinical Practices. 饮食临床试验转化为临床实践的常见限制和挑战。
IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2021-05-01 eCollection Date: 2021-07-01 DOI: 10.5812/ijem.108170
Parvin Mirmiran, Zahra Bahadoran, Zahra Gaeini

The progressive development of clinical and public health nutrition has long relied on dietary clinical trials (DCTs), investigating the causal relationship between diet and multiple risk factors of non-communicable and chronic diseases. DCTs are also hallmarks for establishing dietary requirements and promoting overall nutritional health among the population. Despite their critical importance in translation into public health strategies and practices, DCTs have several limitations and challenges for study design, implementation and finding interpretation. The complex nature of nutrition interventions, collinearity between diet components, multi-target effects of the interventions, diverse dietary behaviors, and food culture are the most challenging issues. Furthermore, baseline exposure and dietary status, appropriate control groups, blinding, randomization, and poor adherence undermine the effectiveness of DCTs in translation into practices. Disruptive factors will be minimized if researchers are committed to following good clinical practice (GCP) standards available for common designs of clinical trials. Planning DCTs, however, needs careful considerations for hypothesis generation, study design development, the definition of primary and secondary outcome measures, and target population.

长期以来,临床和公共卫生营养学的逐步发展一直依赖于膳食临床试验(dct),研究饮食与非传染性疾病和慢性疾病的多种危险因素之间的因果关系。dct也是确定膳食需求和促进人口整体营养健康的标志。尽管dct在转化为公共卫生战略和实践方面至关重要,但在研究设计、实施和寻找解释方面存在一些限制和挑战。营养干预的复杂性、饮食成分之间的共线性、干预的多目标效应、多样化的饮食行为和饮食文化是最具挑战性的问题。此外,基线暴露和饮食状况、适当的对照组、盲法、随机化和依从性差都会破坏dct转化为实践的有效性。如果研究人员致力于遵循临床试验通用设计的良好临床实践(GCP)标准,破坏性因素将被最小化。然而,规划dct需要仔细考虑假设的产生、研究设计的发展、主要和次要结果测量的定义以及目标人群。
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引用次数: 27
Evidence Gap and Knowledge Map of Physical Activity Research in Diabetes in Iran: A Scoping Review. 伊朗糖尿病身体活动研究的证据缺口和知识图谱:范围综述。
IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2021-04-27 eCollection Date: 2021-04-01 DOI: 10.5812/ijem.110636
Mahnaz Sanjari, Shahnaz Esmaeili, Hossein Yarmohammadi, Rasha Atlasi, Maryam Aalaa, Bagher Larijani, Ensieh Nasli-Esfahani

Context: The important role of physical activity in the prevention and management of diabetes necessitates a review of current research to shed light on gaps in national diabetes guidelines.

Evidence acquisition: This scoping review was part of the Iran Diabetes Research Roadmap (IDRR) study. A systematic search was used based on the Arksey and O'Malley method consisting of six steps. The descriptive analysis was done with SPSS software. Additionally, VOS veiwer software was used to draw the knowledge map of the included studies.

Results: There were 169 articles included from the beginning of 2015 to the end of 2019 in Iran. Aerobic and resistance exercises were types of physical activity with more number of articles. Most of the included clinical studies were randomized clinical trials and had a level of evidence two. Also, there was more interest in outcomes such as glycemic control and insulin sensitivity, metabolic syndrome, metabolism, and cardiovascular health. The network of co-authorship was drawn, and "controlled study", "male", and "rat" were the most frequent keywords.

Conclusions: The number of Iranian diabetes researchers on physical activity is increasing, and the majority of clinical studies had a high level of evidence. With maintaining previous interests and investigations, there should be more emphasis on research in elderly and children age groups as evidence gap in Iran. Also, longitudinal cohort studies should be highlighted and Iranian researchers should be encouraged to participate in new topics of research worldwide.

背景:体育活动在糖尿病预防和管理中的重要作用,需要对当前的研究进行审查,以阐明国家糖尿病指南中的差距。证据获取:本综述是伊朗糖尿病研究路线图(IDRR)研究的一部分。采用了基于Arksey和O'Malley方法的系统搜索,包括六个步骤。描述性分析采用SPSS软件。此外,采用VOS viewer软件绘制纳入研究的知识图谱。结果:2015年初至2019年底,伊朗共纳入文献169篇。有氧运动和阻力运动是文章数量较多的体育活动类型。大多数纳入的临床研究为随机临床试验,证据等级为二级。此外,人们对血糖控制和胰岛素敏感性、代谢综合征、新陈代谢和心血管健康等结果更感兴趣。绘制了合作作者网络,“对照研究”、“男性”和“老鼠”是最常见的关键词。结论:伊朗糖尿病研究人员对身体活动的研究人数正在增加,并且大多数临床研究具有高水平的证据。在保持原有兴趣和调查的同时,应更加重视对老年人和儿童年龄组的研究,作为伊朗的证据缺口。此外,应强调纵向队列研究,并应鼓励伊朗研究人员参与世界范围内的新研究课题。
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引用次数: 0
Iranian National Clinical Practice Guideline for Exercise in Patients with Diabetes. 伊朗国家糖尿病患者运动临床实践指南。
IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2021-04-26 eCollection Date: 2021-07-01 DOI: 10.5812/ijem.109021
Mohammad Hassabi, Alireza Esteghamati, Farzin Halabchi, Amir Hosein Abedi-Yekta, Behnaz Mahdaviani, Bahar Hassanmirzaie, Farhad Hosseinpanah, Majid Valizadeh

Context: Growing evidence highlights the importance of physical activity as a critical element for the prevention and control of diabetes. However, there is no clinical practice guideline focusing on the different aspects of exercise in patients with diabetes, especially for the Iranian population.

Objective: We aimed to prepare and adopt a clinical practice guideline to provide well-defined, simple, and concise responses to certain questions related to physical activity and exercise in all patients with diabetes, including type 1, 2, and gestational diabetes mellitus (GDM).

Evidence acquisition: A multidisciplinary team of experts in various fields (sports medicine specialists, endocrinologists, and cardiologists) developed the guideline. This group did the task in four stages: (1) identifying and refining the subject area using 17 clinical questions; (2) appraising evidence through a systematic review of the literature; (3) extracting recommendations from evidence and grading them as A, B, C, or D based on the quality, quantity, and consistency of existing evidence; and (4) subjecting the guideline to external review and finally selecting the recommendations with high scores of appropriateness and agreement. The final version was evaluated and approved by the National Deputy for Curative Affairs - Ministry of Health and Medical Education and has also been endorsed by the Iran Endocrine Society (IES) and Iranian Association of Sports and Exercise Medicine (IASEM).

Results: The guideline consists of 52 recommendations addressing 17 important questions concerning different aspects of exercise prescription in Iranian patients with diabetes.

Conclusions: The guideline provides evidence-based information that may help physicians to prescribe exercise for Iranian patients with diabetes safely and effectively.

背景:越来越多的证据强调了身体活动作为预防和控制糖尿病的关键因素的重要性。然而,没有临床实践指南关注糖尿病患者运动的不同方面,特别是针对伊朗人群。目的:我们旨在制定并采用一项临床实践指南,为所有糖尿病患者(包括1型、2型和妊娠期糖尿病(GDM))的身体活动和锻炼相关的某些问题提供明确、简单和简明的回答。证据获取:由不同领域的专家(运动医学专家、内分泌学家和心脏病学家)组成的多学科团队制定了指南。这个小组分四个阶段完成任务:(1)用17个临床问题确定和完善主题领域;(2)通过对文献的系统回顾来评价证据;(3)从证据中提取建议,并根据现有证据的质量、数量和一致性将其分为A、B、C或D;(4)对指南进行外部评审,最终选择适当性和一致性得分较高的建议。最终版本由国家医疗事务副主管——卫生和医学教育部进行了评估和批准,并得到了伊朗内分泌学会(IES)和伊朗体育和运动医学协会(IASEM)的认可。结果:该指南包括52条建议,涉及伊朗糖尿病患者运动处方不同方面的17个重要问题。结论:该指南提供了基于证据的信息,可以帮助医生安全有效地为伊朗糖尿病患者开运动处方。
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引用次数: 3
Subcutaneous Calcification and Fixed Flexion Deformity of the Right Elbow Joint in a Child with a GNAS Mutation: A Case Report. GNAS突变儿童右肘关节皮下钙化和固定屈曲畸形1例报告。
IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2021-04-19 eCollection Date: 2021-04-01 DOI: 10.5812/ijem.110792
Hussain Alsaffar, Najya Attia, Senthil Senniappan

Introduction: The art of medicine glorifies when a clinician listens carefully to the patient's story, gives a thorough examination, performs appropriate investigations, and finally links findings together to reach a definite diagnosis. An interesting case was reported here, highlighting the integration of different symptoms and manifestations with some relevant biochemical investigations to reach a final diagnosis. To the best of our knowledge, fixed flexion deformity, as a complication of subcutaneous calcification, has not been previously reported in a child with Albright hereditary osteodystrophy (AHO).

Case presentation: A 2.5-year-old boy was born at term with a birth weight of 3.5 kg (-0.49 SDS). The child was referred to a general pediatrician with a history of right elbow joint swelling noticed initially at six months of age. He then developed the limitation of right upper arm movement, which slowly progressed afterward. The patient had no history of trauma. At nine months of age, he was diagnosed with hypothyroidism, preceded by cold skin, dry hair, and constipation. At nine years of age, he presented with a fixed flexion deformity of the right elbow associated with markedly limited joint movement and symmetrical hands with hyperpigmented knuckles of right metacarpal bones. Subcutaneous masses were felt along the right forearm, showing tenderness on palpation. Investigations revealed elevated serum parathyroid hormone and normal calcium indicating parathyroid hormone resistance. Further genetic testing revealed GNAS mutation. The child was obese throughout his childhood.

Conclusions: This case report describes an obese child with subcutaneous calcification that led to fixed flexion deformity of the elbow, starting at an incredibly early age. Hypothyroidism and pseudohypoparathyroidism raised the suspicion of AHO, which was later confirmed by genetic testing. This is the first case report on fixed flexion deformity in a patient with GNAS mutation (c.719-1G > A Chr20: 57484737) in West Asia.

导言:当临床医生仔细倾听病人的故事,进行彻底的检查,进行适当的调查,并最终将结果联系在一起以达到明确的诊断时,医学艺术就会得到赞美。这里报告了一个有趣的病例,强调将不同的症状和表现与一些相关的生化检查相结合,以达到最终诊断。据我们所知,固定屈曲畸形作为皮下钙化的并发症,在患有奥尔布赖特遗传性骨营养不良(who)的儿童中尚未见报道。病例介绍:一名2.5岁男孩足月出生,出生体重为3.5 kg (-0.49 SDS)。该患儿在6个月大时发现右肘关节肿胀,并被转介给普通儿科医生。随后出现右上臂活动受限,此后病情缓慢好转。患者无外伤史。9个月大时,他被诊断为甲状腺功能减退症,并伴有皮肤冰冷、头发干燥和便秘。9岁时,患者出现右肘固定屈曲畸形,关节活动明显受限,双手对称,右掌骨指关节色素沉着。右前臂皮下肿块,触诊有压痛。调查显示血清甲状旁腺激素升高,钙正常,提示甲状旁腺激素抵抗。进一步基因检测显示GNAS突变。这个孩子整个童年都很肥胖。结论:本病例报告描述了一个肥胖儿童,皮下钙化导致肘关节固定屈曲畸形,开始于令人难以置信的早期。甲状旁腺功能减退和假性甲状旁腺功能减退引起了世卫组织的怀疑,后来通过基因检测得到证实。这是西亚第一例GNAS突变(c.719-1G > a Chr20: 57484737)患者的固定屈曲畸形病例报告。
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引用次数: 0
Accuracy of Urinary Etiocholanolone/Androsterone Ratio as Alternative to Serum Testosterone/Dihydrotestosterone Ratio for Diagnosis of 5 Alpha-reductase Type 2 Deficiency Patients and Carriers in Indonesia. 尿Etiocholanolone/Androsterone比值替代血清睾酮/双氢睾酮比值诊断印度尼西亚5例α -还原酶2型缺乏患者和携带者的准确性
IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2021-04-18 eCollection Date: 2021-04-01 DOI: 10.5812/ijem.109510
Nanis Sacharina Marzuki, Firman Pratama Idris, Hannie Kartapradja, Shirley Renata, Alida Harahap, Jose Rizal Latief Batubara
Background The 5 Alpha-reductase type 2 deficiency (5ARD2) is an inherited condition, which clinically presents as variable degrees of under virilization in affected 46,XY individuals. In the diagnostic pathway of 5ARD2, the testosterone/dihydrotestosterone (T/DHT) ratio is broadly employed before molecular analysis of the SRD5A2 gene. However, due to cost-benefit considerations, the DHT test in our country is routinely lacking in clinical settings; therefore, we considered applying the urinary etiocholanolone/androsterone (Et/An) ratio as an alternative test. Objectives We aimed to determine the diagnostic value of the urinary Et/An ratio versus the T/DHT ratio in diagnosing 5ARD2 patients and carriers. Methods Sixty-six suspected 5ARD2 46,XY disorders of sex development (DSD) individuals and 95 family members were recruited in the study. Their clinical manifestations, T/DHT and urinary Et/An ratios, and SRD5A2 genes were analyzed. Using molecular analysis of the SRD5A2 gene as the gold standard, we compared the accuracy of both ratios in diagnosing 5ARD2 patients and carriers with receiver operating characteristic (ROC) curve analysis. Results Thirty-seven patients were confirmed molecularly to have 5ARD2, and the rest (n = 29) were assessed as normal controls, while in the carrier group, 53 were molecularly confirmed as carriers and 42 as controls. The AUCs (areas under the curve) of the T/DHT and urinary Et/An ratios were 57.7% (95% CI 43.0 - 72.4%, P > 0.05) and 79.7% (95% CI 69.0 - 90.4%, P < 0.001), respectively, in diagnosing 5ARD2 patients and 54.1% (95% CI 42.4 - 65.8%, P > 0.05) and 75.1% (95% CI 65.1 - 85.1%, P < 0.001), respectively, in diagnosing carriers. The cutoff value of the urinary Et/An ratio was set at ≥ 0.95 for detecting 5ARD2 patients and ≥ 0.99 for detecting carriers. Conclusions The testosterone/DHT ratio was inaccurate in diagnosing 5ARD2 patients. When molecular analysis for the SRD5A2 gene is lacking, the urinary Et/An ratio may be a useful test to diagnose 5ARD2 patients and carriers.
背景:5α -还原酶2型缺乏症(5ARD2)是一种遗传性疾病,临床表现为46,xy患者不同程度的低男性化。在5ARD2的诊断途径中,在对SRD5A2基因进行分子分析之前,广泛采用睾酮/双氢睾酮(T/DHT)比值。然而,由于成本效益的考虑,DHT检测在我国通常缺乏临床设置;因此,我们考虑采用尿etiocholanolone/androsterone (Et/An)比值作为替代测试。目的:我们旨在确定尿Et/An比与T/DHT比在诊断5ARD2患者和携带者中的诊断价值。方法:招募66例疑似5ard46、XY性发育障碍(DSD)患者及95名家庭成员。分析患者的临床表现、T/DHT、尿Et/An比值及SRD5A2基因。以SRD5A2基因分子分析为金标准,采用受试者工作特征(ROC)曲线分析比较两种比值诊断5ARD2患者和携带者的准确性。结果:分子确诊5ARD2患者37例,其余29例为正常对照组,携带者组53例为携带者,对照组42例。诊断5ARD2患者T/DHT和尿Et/An比值的auc(曲线下面积)分别为57.7% (95% CI 43.0 ~ 72.4%, P > 0.05)和79.7% (95% CI 69.0 ~ 90.4%, P < 0.001),诊断携带者分别为54.1% (95% CI 42.4 ~ 65.8%, P > 0.05)和75.1% (95% CI 65.1 ~ 85.1%, P < 0.001)。5ARD2患者尿Et/An比值临界值≥0.95,携带者尿Et/An比值临界值≥0.99。结论:睾酮/DHT比值在诊断5ARD2患者时是不准确的。当缺乏SRD5A2基因的分子分析时,尿Et/An比值可能是诊断5ARD2患者和携带者的有用测试。
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引用次数: 1
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International Journal of Endocrinology and Metabolism
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