Case Reports in Endocrinology最新文献_第7页

A Glucagonoma Presenting as Cerebral Vein Thrombosis and Diabetes 胰高血糖素瘤表现为脑静脉血栓和糖尿病

IF 1.1

Case Reports in Endocrinology Pub Date : 2022-04-22 DOI: 10.1155/2022/7659341

Marina Delli Colli, B. N. Alamri, Laura Palma, J. Rivera

引用次数: 3

Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1 两种遗传疾病:特纳综合征和1型神经纤维瘤病之间的罕见关联

IF 1.1

Case Reports in Endocrinology Pub Date : 2022-04-15 DOI: 10.1155/2022/6116603

R. El Qadiry, K. Danaoui, H. Nassih, A. Bourrahouat, I. Ait Sab

引用次数: 0

Two Case Reports of Subacute Thyroiditis after Receiving Vaccine for COVID-19 新冠肺炎疫苗接种后亚急性甲状腺炎2例报告

IF 1.1

Case Reports in Endocrinology Pub Date : 2022-04-14 DOI: 10.1155/2022/3180004

Jan Adelmeyer, J. Goebel, Alexander Kauka, P. Kann

{"title":"Two Case Reports of Subacute Thyroiditis after Receiving Vaccine for COVID-19","authors":"Jan Adelmeyer, J. Goebel, Alexander Kauka, P. Kann","doi":"10.1155/2022/3180004","DOIUrl":"https://doi.org/10.1155/2022/3180004","url":null,"abstract":"The ongoing COVID-19 pandemic, caused by a coronavirus named SARS-CoV-2, has struck the planet with great force. As of December 2019, the virus has made its devasting route across all continents . In January 2022, the World Health Organization (WHO) registered over 5.5 million COVID-19 related deaths. Most of these people had suffered from pneumonia and acute respiratory distress syndrome , and in some cases, extensive damage to all organ systems. To get hold of this pandemic, it was vital to find effective vaccines against it. The two vaccine candidates BNT162b2 (BioNTech/Pfizer) and ChAdOx1 (University of Oxford and AstraZeneca) offer a high level of protection against COVID-19 by providing immunity due to antibody production against the spike protein of SARS-CoV-2. In addition to general side effects, immunological side effects such as subacute thyroiditis can follow the vaccination. This transient inflammatory condition of the thyroid gland is characterized with hyperthyroxinemia, inflammation, pain, and tenderness in the thyroid region, as well as an elevation of serum thyroglobulin concentration. There are only a few reports on the occurrence of this disease after receiving a COVID-19 vaccine. We present two cases of subacute thyroiditis after vaccination with the vaccines BNT162b2 and ChAdOx1 and try to enlighten the problem of immunological phenomena after vaccination. It must be discussed whether cross-reactivity of the spike protein and tissue proteins such as thyroid peroxidase (TPO), an “autoimmune/inflammatory syndrome by adjuvants” (ASIA), or the circulating spike protein itself after vaccination are responsible for the SAT.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"52 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85865719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Cushing Syndrome in a Pediatric Patient with Topical Steroid Overuse 局部类固醇过度使用儿童患者的库欣综合征

IF 1.1

Case Reports in Endocrinology Pub Date : 2022-04-11 DOI: 10.1155/2022/8487737

Sandip Kuikel, S. Aryal, Rupesh Shingh Basnyat, Suman Rimal

引用次数: 1

Effect of Vandetanib Treatment on Cystic Changes in the Liver following Metastasis from Medullary Thyroid Carcinoma 万德替尼治疗甲状腺髓样癌转移后肝脏囊性改变的影响

IF 1.1

Case Reports in Endocrinology Pub Date : 2022-04-06 DOI: 10.1155/2022/9855403

A. Matsui, S. Toda, Daisuke Murayama, H. Iwasaki

{"title":"Effect of Vandetanib Treatment on Cystic Changes in the Liver following Metastasis from Medullary Thyroid Carcinoma","authors":"A. Matsui, S. Toda, Daisuke Murayama, H. Iwasaki","doi":"10.1155/2022/9855403","DOIUrl":"https://doi.org/10.1155/2022/9855403","url":null,"abstract":"A number of causes are responsible for the development of cystic lesions in the liver. However, metastasis is a rare cause, and cystic metastasis from medullary thyroid carcinoma has not yet been reported. A 46-year-old Japanese man presented to our hospital with a mass in the left side of his neck. Neck and thyroid ultrasonography revealed a thyroid tumor with calcification and enlarged cervical lymph nodes. He had a family history of medullary thyroid cancer. Computed tomography revealed a tumor in the thyroid and multiple cysts in the liver. Total thyroidectomy with modified neck and upper mediastinum dissections were performed. After surgery, vandetanib treatment was initiated owing to tumor progression; following this, the liver cysts increased in size, abdominal distension appeared, and serum liver enzyme levels were found to be elevated. Percutaneous liver cyst puncture was performed to reduce abdominal distension; however, it was ineffective. The liver enzyme levels improved after replacing vandetanib with lenvatinib treatment. The liver cysts in this case were indicated to be associated with medullary thyroid carcinoma.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"68 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72650089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Challenging Case of Ectopic ACTH Secretion from Prostate Adenocarcinoma 前列腺腺癌促肾上腺皮质激素异位分泌的挑战性病例

IF 1.1

Case Reports in Endocrinology Pub Date : 2022-03-31 DOI: 10.1155/2022/3739957

W. Zeng, J. Khoo

{"title":"Challenging Case of Ectopic ACTH Secretion from Prostate Adenocarcinoma","authors":"W. Zeng, J. Khoo","doi":"10.1155/2022/3739957","DOIUrl":"https://doi.org/10.1155/2022/3739957","url":null,"abstract":"Cushing's syndrome (CS) secondary to ectopic adrenocorticotrophic hormone (ACTH)-producing prostate cancer is rare with less than 50 cases reported. The diagnosis can be challenging due to atypical and variable clinical presentations of this uncommon source of ectopic ACTH secretion. We report a case of Cushing's syndrome secondary to prostate adenocarcinoma who presented with symptoms of severe hypercortisolism with recurrent hypokalaemia, limb oedema, limb weakness, and sepsis. He presented with severe hypokalaemia and metabolic alkalosis (potassium 2.5 mmol/L and bicarbonate 36 mmol/L), with elevated 8 am cortisol 1229 nmol/L. ACTH-dependent Cushing's syndrome was diagnosed with inappropriately normal ACTH 57.4 ng/L, significantly elevated 24-hour urine free cortisol and unsuppressed cortisol after 1 mg low-dose, 2-day low-dose, and 8 mg high-dose dexamethasone suppression tests. 68Ga-DOTANOC PET/CT showed an increase in DOTANOC avidity in the prostate gland, and his prostate biopsy specimen was stained positive for ACTH and markers for neuroendocrine differentiation. He was started on ketoconazole, which was switched to IV octreotide in view of liver dysfunction from hepatic metastases. He eventually succumbed to the disease after 3 months of his diagnosis. It is imperative to recognize prostate carcinoma as a source of ectopic ACTH secretion as it is associated with poor clinical outcomes, and the diagnosis can be missed due to atypical clinical presentations.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"37 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87849215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

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

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

{"title":"An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam","authors":"Phan Tuong Quynh Le, Thanh Nha Uyen Le, Thi Thanh Binh Nguyen, M. T. Nguyen, T. Ha","doi":"10.1155/2022/6025916","DOIUrl":"https://doi.org/10.1155/2022/6025916","url":null,"abstract":"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.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"66 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80131661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

Case Reports in Endocrinology Pub Date : 2022-03-18 DOI: 10.1155/2022/9363543

L. Marcon, C. Fanelli, R. Calafiore

{"title":"Type 1 Diabetes (T1D) and Latent Autoimmune Diabetes in Adults (LADA): The Difference Between a Honeymoon and a Holiday","authors":"L. Marcon, C. Fanelli, R. Calafiore","doi":"10.1155/2022/9363543","DOIUrl":"https://doi.org/10.1155/2022/9363543","url":null,"abstract":"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.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"6 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79792642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

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

{"title":"A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome","authors":"Ravi Upadhyay, Claire Ruane, Rachel Umans, B. Pletcher, Aditi Khokhar, Kristin G Wong","doi":"10.1155/2022/8542281","DOIUrl":"https://doi.org/10.1155/2022/8542281","url":null,"abstract":"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.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"51 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80827837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

Case Reports in Endocrinology Pub Date : 2022-03-02 DOI: 10.1155/2022/4101975

Mohamed Alhemeiri, Eiman Alseddeeqi

{"title":"Euglycemic Diabetic Ketoacidosis after Discontinuing SGLT2 Inhibitor","authors":"Mohamed Alhemeiri, Eiman Alseddeeqi","doi":"10.1155/2022/4101975","DOIUrl":"https://doi.org/10.1155/2022/4101975","url":null,"abstract":"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.","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":"21 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89581811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5