Case Reports in Endocrinology最新文献

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An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam 在越南首次发现的性发育障碍的复合杂合新生儿中极为罕见的SRD5A2基因C . 485a >C突变

IF 1.1 Q4 ENDOCRINOLOGY & METABOLISM

Case Reports in Endocrinology

Pub Date : 2022-03-27 DOI: 10.1155/2022/6025916

Phan Tuong Quynh Le, Thanh Nha Uyen Le, Thi Thanh Binh Nguyen, M. T. Nguyen, T. Ha

SRD5A2 (steroid 5-alpha-reductase 2) mutation, which impairs 5α-reductase-2 enzyme activity, is among the causes of 46,XY disorders of sex development (DSD). Here, we report a rare pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro) of SRD5A2 gene in a compound heterozygous state first identified in a Vietnamese newborn with 5α-reductase-2 enzyme deficiency. We also first submitted this rare mutation to ClinVar database (VCV000973099.1). The patient presented with hyperpigmented labia-majora-like bifid scrotum, clitoris-like phallus, perineoscrotal hypospadias, and blind-ending vagina. The other mutation NM_000348.4:c.680G>A (NP_000339.2:p.Arg227Gln) was reported previously. This compound heterozygous mutation was first detected by next-generation sequencing. By Sanger sequencing, we confirmed that the c.485A>C mutation was maternal inherited, whereas the c.680G>A mutation was paternal inherited. Up to date, this is the first report of this rare compound heterozygous state of SRD5A2 c.485A>C and c.680G>A mutations in patients with 46,XY DSD generally as well as in Vietnamese population particularly and is also the second report in the world carrying the pathogenic mutation NM_000348.4:c.485A>C (NP_000339.2:p.His162Pro). Our finding has enriched the understanding of the spectrum of SRD5A2 variants and phenotypic correlation in Asian patients with 46,XY DSD.

SRD5A2(类固醇5- α-还原酶2)突变，损害5α-还原酶2酶活性，是导致46,xy性发育障碍(DSD)的原因之一。在这里，我们报告了一种罕见的致病突变NM_000348.4:c。在越南5α-还原酶-2缺乏症新生儿中首次发现SRD5A2基因485A>C (NP_000339.2:p.His162Pro)呈复合杂合状态。我们也首先将这个罕见的突变提交到ClinVar数据库(VCV000973099.1)。患者表现为大阴唇样双阴囊色素沉着，阴蒂样阴茎，会阴阴囊下裂，阴道盲尾。另一个突变是NM_000348.4:c。680G>A (NP_000339.2: p.a g227gln)先前有报道。该复合杂合突变首次通过下一代测序检测到。通过Sanger测序，我们证实C . 485a >C突变是母系遗传，而C . 680g >A突变是父系遗传。这是迄今为止在越南人群和普遍的46,xy DSD患者中首次报道的罕见的复合杂合状态的SRD5A2 C . 485a >C和C . 680g >A突变，也是世界上第二例携带致病突变NM_000348.4: C的报道。485 C > (NP_000339.2: p.His162Pro)。我们的发现丰富了对亚洲46,xy DSD患者的SRD5A2变异谱和表型相关性的理解。

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引用次数: 0

Type 1 Diabetes (T1D) and Latent Autoimmune Diabetes in Adults (LADA): The Difference Between a Honeymoon and a Holiday 成人1型糖尿病(T1D)和潜伏性自身免疫性糖尿病(LADA):蜜月和假期的区别

IF 1.1 Q4 ENDOCRINOLOGY & METABOLISM

Case Reports in Endocrinology

Pub Date : 2022-03-18 DOI: 10.1155/2022/9363543

L. Marcon, C. Fanelli, R. Calafiore

Type 1 diabetes mellitus (T1D) is a chronic autoimmune disease in which destruction of the insulin-producing β-cells in the pancreatic islets requires regular lifelong insulin replacement therapy, the only lifesaving treatment available at this time. In young persons with a genetic predisposition, it usually manifests after being exposed to environmental triggers. A subtype of autoimmune diabetes mellitus (ADM) that typically occurs in adulthood is often referred to as latent autoimmune diabetes of adults (LADA). LADA is characterized by a milder process of β-cells destruction and less intensive insulin treatment, which may become necessary even many years after diagnosis. Genetic predisposition of T1D carries an increased risk for other autoimmune diseases, such as autoimmune thyroiditis, the most frequently associated condition, and pernicious anaemia (PA), present in approximately 4% of all individuals with T1D. Here, we describe the case of a 90-year-old woman with vitiligo and a mute medical history who was admitted to our University Hospital in Perugia with hyperglycaemia and severe anaemia due to vitamin B12 (VB12) depletion. A short time after setting the beginning treatment with a basal-bolus insulin regimen, her insulin requirement rapidly declined and treatment with sitagliptin, a dipeptidyl peptidase-4 inhibitor (DPP4), was started. A complete autoimmunity screening panel showed that GAD65 and intrinsic factor autoantibodies were positive.

1型糖尿病(T1D)是一种慢性自身免疫性疾病，在这种疾病中，胰岛中产生胰岛素的β细胞被破坏，需要终生定期接受胰岛素替代治疗，这是目前唯一可以挽救生命的治疗方法。在具有遗传易感性的年轻人中，它通常在暴露于环境触发因素后表现出来。一种典型发生在成年期的自身免疫性糖尿病(ADM)亚型通常被称为成人潜伏性自身免疫性糖尿病(LADA)。LADA的特点是β细胞破坏过程较轻，胰岛素治疗强度较低，即使在诊断后多年也可能需要胰岛素治疗。T1D的遗传易感性会增加其他自身免疫性疾病的风险，如自身免疫性甲状腺炎(最常见的相关疾病)和恶性贫血(PA)，约占所有T1D患者的4%。在这里，我们描述了一个90岁的白癜风妇女和沉默的病史，谁住进了我们的佩鲁贾大学医院高血糖和严重贫血，由于维生素B12 (VB12)缺乏。在开始接受基础剂量胰岛素方案治疗后不久，她的胰岛素需求迅速下降，并开始使用西格列汀治疗，一种二肽基肽酶-4抑制剂(DPP4)。完整的自身免疫筛查显示GAD65和内在因子自身抗体阳性。

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引用次数: 1

A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome 生长激素治疗Dyggve-Melchior-Clausen综合征1例

IF 1.1 Q4 ENDOCRINOLOGY & METABOLISM

Case Reports in Endocrinology

Pub Date : 2022-03-15 DOI: 10.1155/2022/8542281

Ravi Upadhyay, Claire Ruane, Rachel Umans, B. Pletcher, Aditi Khokhar, Kristin G Wong

Short stature has many causes including genetic disease, skeletal dysplasias, endocrinopathies, familial short stature, and nutritional deficiencies. Recombinant growth hormone (rGH) therapy may be employed to improve stature based on the underlying etiology and growth velocity. Skeletal dysplasia in Dyggve–Melchior–Clausen (DMC) syndrome tends to be progressive, typically with hip involvement, and ultimately leads to bilateral dislocation of the hip joints. Here, we present a pediatric patient with short stature treated with rGH therapy, complicated by the development of debilitating, bilateral hip pain, and found to have DMC syndrome. Our patient had limited range of motion at several joints including the hips after receiving 6 months of rGH therapy. Given the timing of the patient's rGH therapy and the progression of her disease, it is difficult to determine if there were any benefits and instead, is concerning for worsening of her skeletal dysplasia with rGH therapy use. Consequently, patients with severe short stature should have a thorough workup for genetic causes like DMC syndrome, before initiating rGH therapy to determine any potential benefits or harms of treatment.

身材矮小有很多原因，包括遗传性疾病、骨骼发育不良、内分泌失调、家族性身材矮小和营养缺乏。重组生长激素(rGH)治疗可以根据潜在的病因和生长速度来改善身高。Dyggve-Melchior-Clausen (DMC)综合征的骨骼发育不良往往是进行性的，通常累及髋关节，最终导致双侧髋关节脱位。在此，我们报告了一位接受rGH治疗的矮小儿童患者，并发虚弱的双侧髋关节疼痛，并发现患有DMC综合征。在接受6个月的rGH治疗后，我们的患者在包括髋关节在内的几个关节的活动范围有限。考虑到患者rGH治疗的时间和疾病的进展，很难确定是否有任何益处，相反，使用rGH治疗会使她的骨骼发育不良恶化。因此，严重身材矮小的患者在开始rGH治疗之前，应该彻底检查遗传原因，如DMC综合征，以确定治疗的潜在益处或危害。

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引用次数: 0

Euglycemic Diabetic Ketoacidosis after Discontinuing SGLT2 Inhibitor 停用SGLT2抑制剂后的糖尿病酮症酸中毒

IF 1.1 Q4 ENDOCRINOLOGY & METABOLISM

Case Reports in Endocrinology

Pub Date : 2022-03-02 DOI: 10.1155/2022/4101975

Mohamed Alhemeiri, Eiman Alseddeeqi

Background Sodium glucose cotransporter-2 (SGLT2) inhibitors have been proven to be very effective in the management of type II diabetes. These medications can cause adverse drug reactions such as genital mycotic infections. Another critical adverse drug reaction is euglycemic diabetic ketoacidosis (EDKA) under the setting of other contributing risk factors for developing diabetic ketoacidosis. Case Presentation. We report a case of a 45-year-old gentleman with type 2 diabetes mellitus on empagliflozin, metformin, and glimepiride who presented with abdominal pain, fatigue, and vomiting. Of note, he started a ketogenic diet three days before his presentation and self-stopped his antidiabetic medications two days before his presentation. The patient was found to have euglycemic diabetic ketoacidosis and was treated as per the protocol. He was discharged on metformin and pioglitazone. Two weeks following discharge, canagliflozin was added. Conclusion Euglycemic diabetic ketoacidosis could still be precipitated despite discontinuation of SGLT2I under a ketogenic diet. Discussion related to the initiation of a ketogenic diet should occur between the care provider and the patient.

葡萄糖共转运蛋白2钠(SGLT2)抑制剂已被证明在II型糖尿病的治疗中非常有效。这些药物可引起不良反应，如生殖器真菌感染。另一个关键的药物不良反应是糖尿病酮症酸中毒(EDKA)在其他危险因素的背景下发生糖尿病酮症酸中毒。案例演示。我们报告一例45岁的2型糖尿病患者，服用恩格列净、二甲双胍和格列美脲后出现腹痛、疲劳和呕吐。值得注意的是，他在演讲前三天开始了生酮饮食，并在演讲前两天自行停用了抗糖尿病药物。患者被发现患有糖尿病酮症酸中毒，并按照方案治疗。他出院时服用二甲双胍和吡格列酮。出院后2周，加用卡格列净。结论在生酮饮食下停用SGLT2I仍可诱发糖尿病酮症酸中毒。有关生酮饮食开始的讨论应在医护人员和患者之间进行。

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引用次数: 5

Overcoming Barriers to Diabetes Technology in Youth with Type 1 Diabetes and Public Insurance: Cases and Call to Action 克服青少年1型糖尿病技术障碍和公共保险:案例和行动呼吁

IF 1.1 Q4 ENDOCRINOLOGY & METABOLISM

Case Reports in Endocrinology

Pub Date : 2022-03-01 DOI: 10.1155/2022/9911736

Ming Yeh Lee, M. Tanenbaum, D. Maahs, P. Prahalad

Advancements in diabetes technology such as continuous glucose monitoring (CGM), insulin pumps, and automated insulin delivery provide opportunities to improve glycemic control for youth with type 1 diabetes (T1D). However, diabetes technology use is lower in youth on public insurance, and this technology use gap is widening in the US. There is a significant need to develop effective interventions and policies to promote equitable care. The dual purpose of this case series is as follows: (1) describe success stories of the CGM Time in Range Program (CGM TIPs), which removed barriers for initiating CGM and provided asynchronous remote glucose monitoring for youth on public insurance, and (2) advocate for improving CGM coverage by public insurance. We describe a series of six youths with T1D and public insurance who obtained and sustained use of CGM with assistance from the program. Three youths had improved engagement with the care team while on CGM and the remote monitoring protocol, and three youths were able to leverage sustained CGM wear to obtain insurance coverage for automated insulin delivery systems. CGM TIPs helped these youths achieve lower hemoglobin A1c and improved time in range (TIR). Despite the successes, expansion of CGM TIPs is limited by stringent barriers for CGM approval and difficult postapproval patient workflows to receive shipments. These cases highlight the potential for combining diabetes technology and asynchronous remote monitoring to support continued use and provide education to improve glycemic control for youth with T1D on public insurance and the need to reduce barriers for obtaining CGM coverage by public insurance.

糖尿病技术的进步，如连续血糖监测(CGM)、胰岛素泵和自动胰岛素输送，为改善青少年1型糖尿病(T1D)的血糖控制提供了机会。然而，在接受公共保险的年轻人中，糖尿病技术的使用较低，而且这种技术使用差距在美国正在扩大。迫切需要制定有效的干预措施和政策，以促进公平护理。本案例系列的双重目的是:(1)描述CGM Time in Range Program (CGM TIPs)的成功案例，该项目消除了启动CGM的障碍，为公共保险青年提供异步远程血糖监测;(2)倡导公共保险提高CGM的覆盖率。我们描述了一系列六名患有T1D和公共保险的年轻人，他们在该计划的帮助下获得并持续使用CGM。三名年轻人在使用CGM和远程监测方案时改善了与护理团队的接触，三名年轻人能够利用持续佩戴CGM来获得自动胰岛素输送系统的保险。CGM TIPs帮助这些年轻人实现了较低的血红蛋白A1c，并改善了范围内时间(TIR)。尽管取得了成功，但CGM TIPs的扩展受到CGM批准的严格障碍和批准后患者接收货物的困难工作流程的限制。这些案例强调了将糖尿病技术与异步远程监测相结合的潜力，以支持继续使用，并提供教育，以改善公共保险中患有糖尿病的青年的血糖控制，以及减少通过公共保险获得糖尿病保险的障碍的必要性。

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引用次数: 2

An Infant with Asymptomatic Vitamin D Intoxication: A Prolonged and Sustainable Recovery 婴儿无症状维生素D中毒:一个长期和可持续的恢复

IF 1.1 Q4 ENDOCRINOLOGY & METABOLISM

Case Reports in Endocrinology

Pub Date : 2022-02-27 DOI: 10.1155/2022/7072815

I. Al Alwan, Nouf Al Issa, Yousef Al Anazi, Khalid Al Noaim, M. Z. Mughal, A. Babiker

Vitamin D intoxication (VDI) usually develops due to inappropriate use of vitamin D in high doses by the families of infants with complaints suggestive of vitamin D deficiency such as delayed teething, knock knees, or delayed walking. We present here an experience of treating an infant with asymptomatic VDI that had a prolonged course of recovery and a sustainable level of vitamin D over a follow-up period of 2.5 years. In our patient, vitamin D started to drop steadily after a month of stopping vitamin D supplements but not to a normal level. It reached an acceptable level only after six months. This case emphasizes the importance of educating parents about the empirical use of vitamin D over the counter, assessing the baseline level of serum vitamin D level prior to initiation of treatment and highlights the value of verifying additional dietary sources of vitamin D or oral supplements in patient's history.

维生素D中毒(VDI)通常是由于有维生素D缺乏症的婴儿的家庭不适当地使用高剂量维生素D而发展起来的，这些婴儿的症状包括出牙延迟、膝盖打颤或走路迟缓。我们在这里提出了治疗无症状VDI婴儿的经验，该婴儿的恢复过程较长，维生素D的可持续水平在随访期间为2.5年。在我们的病人中，在停止补充维生素D一个月后，维生素D开始稳步下降，但没有达到正常水平。6个月后才达到可接受的水平。本病例强调了教育家长关于非处方维生素D的经验性使用的重要性，在治疗开始前评估血清维生素D水平的基线水平，并强调了在患者历史中验证维生素D的其他饮食来源或口服补充剂的价值。

引用次数: 1

Retracted: A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia 缩回:新生儿生殖器模糊，45,X/46,XY嵌合，Y染色体跳跃和先天性肾上腺增生

IF 1.1 Q4 ENDOCRINOLOGY & METABOLISM

Case Reports in Endocrinology

Pub Date : 2022-02-22 DOI: 10.1155/2022/9808430

Case Reports in Endocrinology

[This retracts the article DOI: 10.1155/2013/747898.].

[本文撤回文章DOI: 10.1155/2013/747898.]。

引用次数: 0

A Tale of Two Hypersecreting Adrenal Neoplasms in the Heartland of COVID-19 Pandemic, Lombardy, Italy 在意大利伦巴第，COVID-19大流行的中心地带，两个高分泌肾上腺肿瘤的故事

IF 1.1 Q4 ENDOCRINOLOGY & METABOLISM

Case Reports in Endocrinology

Pub Date : 2022-02-18 DOI: 10.1155/2022/1539203

B. Zampetti, R. Attanasio, E. Carioni, D. Dallabonzana, I. Pauna, M. Boniardi, R. Cozzi

In this study, we report the management, in Lombardy, Italy, of one patient with Cushing's syndrome due to adrenal adenoma and another one with pheochromocytoma, whose surgeries were deferred owing to the COVID-19 pandemic.

在这项研究中，我们报告了意大利伦巴第的一名肾上腺腺瘤库欣综合征患者和另一名嗜铬细胞瘤患者的治疗情况，由于COVID-19大流行，他们的手术被推迟。

引用次数: 1

Development and Resolution of Secondary Adrenal Insufficiency after an Intra-Articular Steroid Injection. 关节内类固醇注射后继发性肾上腺功能不全的发展和解决。

IF 1.1 Q4 ENDOCRINOLOGY & METABOLISM

Case Reports in Endocrinology

Pub Date : 2022-01-01 DOI: 10.1155/2022/4798466

Jia Wei Tan, Sachin K Majumdar

Corticosteroid injections are commonly indicated in inflammatory conditions involving the soft tissues, tendon sheaths, bursae, and joints. Local corticosteroids carry a lower risk of complications than systemic corticosteroid but may be systemically absorbed and subsequently suppress the hypothalamic-pituitary-adrenal (HPA) axis. This can cause secondary adrenal insufficiency (SAI) as well as iatrogenic Cushing's syndrome. We report a 78-year-old female who presented with nonspecific gastrointestinal symptoms after a recent intra-articular steroid injection in her shoulder. She had hyponatremia, low morning cortisol, and failed to respond to high-dose cosyntropin. Further workup revealed the underlying cause to be SAI. Follow-up testing revealed a recovery of HPA responsiveness within 2 weeks of her initial diagnosis. Conclusion. Our case highlights how the hypothalamic-pituitary axis (HPA) can be suppressed with intra-articular steroids. The threshold to test corticosteroid users for adrenal insufficiency should be low in clinical practice, especially for those patients with nonspecific symptoms after steroid injections. Once diagnosed, temporary treatment with steroids may be required.

皮质类固醇注射通常适用于软组织、肌腱鞘、滑囊和关节的炎症。局部皮质类固醇比全身皮质类固醇并发症的风险低，但可能被全身吸收并随后抑制下丘脑-垂体-肾上腺(HPA)轴。这可引起继发性肾上腺功能不全(SAI)以及医源性库欣综合征。我们报告一位78岁的女性，她最近在肩部关节内注射类固醇后出现非特异性胃肠道症状。她有低钠血症，早晨皮质醇低，对大剂量共syntropin无效。进一步的检查揭示了SAI的根本原因。随访检测显示，患者在最初诊断的2周内HPA反应性恢复。结论。本病例强调了如何用关节内类固醇抑制下丘脑-垂体轴(HPA)。在临床实践中，检测皮质类固醇使用者肾上腺功能不全的阈值应该较低，特别是对于那些注射类固醇后出现非特异性症状的患者。一旦确诊，可能需要暂时用类固醇治疗。

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引用次数: 1

BYPASS-OMA: Hypoglycemic Hyperinsulinemic Nesidioblastosis after Gastric Bypass Surgery-A Case Report and Review of the Literature. 胃旁路手术后低血糖性高胰岛素性肾母细胞病1例报告及文献复习。

IF 1.1 Q4 ENDOCRINOLOGY & METABOLISM

Case Reports in Endocrinology

Pub Date : 2022-01-01 DOI: 10.1155/2022/5472304

Jessica Cao, Cindy Kim, Thatcher Huynh, Amanda Frugoli, Heidi Henson, Vera Valdez, Tricia Westhoff-Pankratz

This rare case vignette describes hypoglycemic, hyperinsulinemic nesidioblastosis in a female patient with prior Roux-en-Y gastric bypass. The patient presented with severe symptomatic hypoglycemia resistant to IV dextrose and diazoxide, requiring surgical resection. Traditional imaging found nonspecific findings, and biochemical analysis was inconsistent with insulinoma. A gallium-68 dotatate PET scan was utilized to successfully localize the tumor in the distal pancreas. She underwent laparoscopic resection of the distal pancreatic lesion with resolution of her symptoms and return to euglycemia. The histological evaluation confirmed the diagnosis of nesidioblastosis. Nesidioblastosis is a rare complication of bariatric surgery that may be more clinically relevant with rising prevalence of obesity. Diagnosis with conventional imaging modalities may be challenging; however, the dotatate PET scan may have high utility in detecting lesions. It is essential for clinicians to consider nesidioblastosis in the differential diagnosis of hyperinsulinemic hypoglycemic conditions and recognize there may be a link with increasing rates of bariatric surgery.

这个罕见的病例描述了低血糖，高胰岛素的nesidioblastosis女性患者先前Roux-en-Y胃旁路手术。患者出现严重的症状性低血糖，对静脉注射葡萄糖和二氮氧化合物耐药，需要手术切除。传统影像学发现非特异性发现，生化分析与胰岛素瘤不一致。使用镓-68位正电子发射断层扫描成功定位胰腺远端肿瘤。她接受腹腔镜切除胰腺远端病变，症状消退，血糖恢复正常。组织学检查证实了nesidioblastosis的诊断。Nesidioblastosis是减肥手术中一种罕见的并发症，可能在临床上与肥胖患病率的上升有更多的关系。常规影像学诊断可能具有挑战性;然而，方位PET扫描在检测病变方面可能具有很高的实用性。对于临床医生来说，在鉴别诊断高胰岛素性低血糖疾病时考虑成细胞病是必要的，并认识到这可能与减肥手术率的增加有关。

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引用次数: 1

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