JCEM case reports最新文献_第4页

Pembrolizumab-induced Thyroiditis, Hypophysitis and Adrenalitis: A Case of Triple Endocrine Dysfunction. Pembrolizumab诱发甲状腺炎、肾上腺皮质炎和肾上腺炎：三重内分泌功能障碍病例。

JCEM case reports Pub Date : 2024-11-04 eCollection Date: 2024-11-01 DOI: 10.1210/jcemcr/luae200

Silvia Rossi, Francesca Silvetti, Monia Bordoni, Alessandro Ciarloni, Gianmaria Salvio, Giancarlo Balercia

{"title":"Pembrolizumab-induced Thyroiditis, Hypophysitis and Adrenalitis: A Case of Triple Endocrine Dysfunction.","authors":"Silvia Rossi, Francesca Silvetti, Monia Bordoni, Alessandro Ciarloni, Gianmaria Salvio, Giancarlo Balercia","doi":"10.1210/jcemcr/luae200","DOIUrl":"10.1210/jcemcr/luae200","url":null,"abstract":"Immune checkpoint inhibitor drugs can trigger autoimmune endocrine reactions as a known side effect. Several cases of immunotherapy-induced autoimmune endocrinopathies have been described, but multiple sequential endocrine toxicities are a rare occurrence. A 39-year-old patient with metastatic melanoma started adjuvant therapy with pembrolizumab. One month later he presented with asymptomatic thyrotoxicosis and, within several weeks, overt hypothyroidism, for which he started levothyroxine therapy. Subsequently the patient developed central adrenal insufficiency due to probable hypophysitis, and steroid replacement therapy was started. Pembrolizumab therapy was then discontinued. After a few months, a full recovery of pituitary function was observed, but primary adrenal insufficiency occurred, requiring additional fludrocortisone therapy. The described clinical case is a very uncommon case of triple endocrinological toxicity from immunotherapy. The clinical and biochemical manifestations of immunotherapy-induced endocrinopathies can be variable and atypical; therefore, it is necessary to pay special attention to any clue of hormonal dysfunction.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 11","pages":"luae200"},"PeriodicalIF":0.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11532647/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142577401","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

An Unusual Movement Disorder-Case of Diabetic Striatopathy. 一种不寻常的运动障碍--糖尿病纹状体病病例。

JCEM case reports Pub Date : 2024-10-25 eCollection Date: 2024-11-01 DOI: 10.1210/jcemcr/luae201

Shazia Azmat, Owais Lodhi, Harish Ashok, Hussein Harb, Mahwash Siddiqui, Janice Gilden

引用次数: 0

Bilateral Knee Effusions Secondary to Zoledronic Acid Infusion. 继发于唑来膦酸输注的双侧膝关节积液

JCEM case reports Pub Date : 2024-10-25 eCollection Date: 2024-11-01 DOI: 10.1210/jcemcr/luae199

Jenny Wei, Catherine Soo Ihn Cho

引用次数: 0

Hypercalcemia Due to Progressive Disseminated Histoplasmosis. 进行性播散性组织胞浆菌病导致的高钙血症。

JCEM case reports Pub Date : 2024-10-22 eCollection Date: 2024-11-01 DOI: 10.1210/jcemcr/luae198

Lakshmipriya Thandiyekkal Rajan, Naman Aggarwal, Jayakrishnan C Menon, Subhash Yadav, Rungmei S K Marak

{"title":"Hypercalcemia Due to Progressive Disseminated Histoplasmosis.","authors":"Lakshmipriya Thandiyekkal Rajan, Naman Aggarwal, Jayakrishnan C Menon, Subhash Yadav, Rungmei S K Marak","doi":"10.1210/jcemcr/luae198","DOIUrl":"10.1210/jcemcr/luae198","url":null,"abstract":"Hypercalcemia is a relatively common clinical problem, and evaluation for its etiology may often prove to be challenging. However, a thorough etiological workup can guide effective therapy and can often prove to be lifesaving. We describe a 61-year-old man who presented with fever, anorexia, and weight loss for 3 months, and altered sensorium for around 1 week. His evaluation revealed severe hypercalcemia, correction of which led to improvement in his symptoms. Workup for the cause revealed that he had parathyroid hormone-independent hypercalcemia with elevated levels of 1,25-dihydroxyvitamin D, suggesting a granulomatous disease. Radiological evaluation was suggestive of a multisystem disorder with bilateral adrenal enlargement, generalized lymphadenopathy, and hepatosplenomegaly. Biopsy from the adrenal gland and bone marrow clinched the diagnosis of progressive disseminated histoplasmosis, which required treatment with liposomal amphotericin B for a total duration of 4 weeks, followed by oral itraconazole. The effective treatment was associated with normalization of serum calcium and disappearance of symptoms. Histoplasmosis represents a rare cause of hypercalcemia, with only around 22 such cases having been reported worldwide.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 11","pages":"luae198"},"PeriodicalIF":0.0,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142516781","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

Long-Term Effects of Incretin-Based Drugs on Glycemic Control in Permanent Neonatal Diabetes. 基于分泌素的药物对永久性新生儿糖尿病患者血糖控制的长期影响。

JCEM case reports Pub Date : 2024-10-18 eCollection Date: 2024-11-01 DOI: 10.1210/jcemcr/luae188

Ayaka Oshiro, Ryoichiro Aotani, Wakako Sakamoto, Takanari Kitazono, Toshiaki Ohkuma

{"title":"Long-Term Effects of Incretin-Based Drugs on Glycemic Control in Permanent Neonatal Diabetes.","authors":"Ayaka Oshiro, Ryoichiro Aotani, Wakako Sakamoto, Takanari Kitazono, Toshiaki Ohkuma","doi":"10.1210/jcemcr/luae188","DOIUrl":"10.1210/jcemcr/luae188","url":null,"abstract":"Permanent neonatal diabetes mellitus (PNDM) is a genetic disorder, characterized by a decrease in endogenous insulin secretion. Therefore, exogenous insulin supplementation plays a central role in controlling glycemia. Although adding a sulfonylurea can help to discontinue insulin, discontinuation is sometimes difficult when the sulfonylurea is administered at older ages. A 24-year-old woman with longstanding PNDM who had poor glycemic control using insulin (47 U/day) and high-dose glibenclamide (0.6 mg/kg/day), had successfully discontinued insulin after initiating the dipeptidyl peptidase-4 inhibitor sitagliptin (50 mg/day). Additionally, hemoglobin A1c levels decreased by 4.8%. Double dosing of sitagliptin and subsequent switching to the glucagon-like peptide-1 receptor agonist semaglutide (0.25 mg/week followed by 0.5 mg/week) further decreased hemoglobin A1c values, with graded improvements in endogenous insulin secretion. There were no episodes of hypoglycemia during which glibenclamide was titrated down from 0.6 to 0.4 mg/kg/day. Intra- and inter-day glucose variability as assessed by continuous glucose monitoring was also improved. In patients with PNDM, administration and dose escalation of incretin-based drugs, in addition to a high-dose sulfonylurea, could be a useful treatment strategy. This strategy may be helpful for discontinuing insulin, downtitrating sulfonylureas, and subsequent achievement of better glycemic control regarding long-term stability and short-term variability.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 11","pages":"luae188"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11487289/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482397","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

Primary Paraganglioma Arising From the Maxillary Bone. 上颌骨原发性副神经节瘤

JCEM case reports Pub Date : 2024-10-18 eCollection Date: 2024-11-01 DOI: 10.1210/jcemcr/luae181

Elias Chuki, Kimia Saleh Anaraki, Abhishek Jha, Mayank Patel, Alexander Ling, Karel Pacak

{"title":"Primary Paraganglioma Arising From the Maxillary Bone.","authors":"Elias Chuki, Kimia Saleh Anaraki, Abhishek Jha, Mayank Patel, Alexander Ling, Karel Pacak","doi":"10.1210/jcemcr/luae181","DOIUrl":"10.1210/jcemcr/luae181","url":null,"abstract":"We present a unique case of primary intraosseous paraganglioma (PGL) originating from maxillary bone. PGL is a neurosecretory neoplasm that arises from cells believed to originate from the neural crest. A 30-year-old woman presented with right facial pain and swelling, along with palpitations. Computed tomography (CT) imaging revealed a 3.3 × 3.1 × 2.3 cm mass in the anterior maxilla, and biochemical results showed elevated plasma dopamine, 3-methoxytyramine, and chromogranin A levels. Biopsy confirmed a PGL, with positive expression of synaptophysin, chromogranin A, and GATA-3. Whole-body positron emission tomography/computed tomography (PET/CT) scans showed avidity on 18F-fluorodopa (18F-FDOPA), 68Ga-DOTA(0)-Tyr(3)-octreotate (68Ga-DOTATATE), and 18F-fluorodeoxyglucose (18F-FDG). No other lesions (primary or metastatic) were found. Proton beam therapy was chosen over surgery due to potential complications and patient's preference. Following radiotherapy, she experienced symptom relief, with dopamine levels decreasing and chromogranin A normalizing, with the lesion remaining stable on 11-month follow-up imaging. This case highlights the rarity of primary bone PGLs and underscores the importance of comprehensive diagnostic approaches combining physical examinations, biochemical testing, functional imaging, and histopathological analysis properly guiding personalized treatment strategies. Additionally, proton beam therapy emerges as a highly suitable treatment option for head and neck paragangliomas (HNPGLs), offering effective tumor control with minimal complications.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 11","pages":"luae181"},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11487291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482398","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

A Case of Refractory Thyroid Storm Despite Correction of Peripheral Thyroid Hormone Levels. 一例外周甲状腺激素水平得到纠正的难治性甲状腺风暴病例

JCEM case reports Pub Date : 2024-10-16 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae179

Madeline Evans, Grace Prince, Priyanka Majety

{"title":"A Case of Refractory Thyroid Storm Despite Correction of Peripheral Thyroid Hormone Levels.","authors":"Madeline Evans, Grace Prince, Priyanka Majety","doi":"10.1210/jcemcr/luae179","DOIUrl":"https://doi.org/10.1210/jcemcr/luae179","url":null,"abstract":"Thyroid storm is a life-threatening complication of hyperthyroidism that necessitates early diagnosis for aggressive, effective treatment. We present a patient with a newly diagnosed multinodular goiter who presented to the emergency department with leg swelling, dyspnea, tremors, and atrial fibrillation with elevation in thyroid hormone levels consistent with thyrotoxicosis. Despite improvement in peripheral hormone levels on maximized medical treatment with beta-blockers, methimazole, glucocorticoids, cholestyramine, and potassium iodide, she continued to clinically decline with new encephalopathy, heart failure, and liver and kidney dysfunction while receiving treatment. Work-up for alternative causes of her clinical decompensation was unrevealing. Plasmapheresis was initiated, with further reduction in thyroid hormone levels without clinical improvement. Cases in the literature do report incidences of severe thyrotoxicosis refractory to traditional treatment measures; however, generally, these cases involve a failure to reduce thyroid hormone levels with medical treatment and subsequent consideration of plasmapheresis. Our case suggests that clinical improvement in thyroid storm does lag behind biochemical improvement in select patients, and delayed clinical improvement or even severity of symptoms may warrant earlier consideration of plasmapheresis in such patients.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae179"},"PeriodicalIF":0.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11482002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482388","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

Successful Transition to Sulfonylurea for Relapsed Monogenic Diabetes Due to Rare 6q23.3 Duplication. 因罕见的 6q23.3 重复而复发的单基因糖尿病患者成功转用磺脲类药物。

JCEM case reports Pub Date : 2024-10-16 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae180

Doha Hassan, David B Allen, Melinda Chen

引用次数: 0

Burosumab, a Transformational Treatment in a Pediatric Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome. 皮肤-骨骼低磷血症综合征儿科患者的变革性治疗方法--布罗苏单抗。

JCEM case reports Pub Date : 2024-10-16 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae184

Paulo Cesar Alves da Silva, Vinicius Rene Giombelli, Fernando Henrique Galvão Tessaro

引用次数: 0

Isolated IgG4-related Infundibulo-hypophysitis. 与 IgG4 相关的孤立性 Infundibulo-hypophysitis.

JCEM case reports Pub Date : 2024-10-16 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae182

Margaret E Allen, Ryan T Beck, Nathan T Zwagerman, Dylan Coss, Amy Fisco, Adriana G Ioachimescu

{"title":"Isolated IgG4-related Infundibulo-hypophysitis.","authors":"Margaret E Allen, Ryan T Beck, Nathan T Zwagerman, Dylan Coss, Amy Fisco, Adriana G Ioachimescu","doi":"10.1210/jcemcr/luae182","DOIUrl":"https://doi.org/10.1210/jcemcr/luae182","url":null,"abstract":"A 72-year-old man presented with several months of weakness, poor appetite, and depressed moods. Laboratory tests indicated central hypocortisolism, hypothyroidism and hypogonadism, and mild hyperprolactinemia. Imaging indicated a homogenously enhancing solid suprasellar mass inseparable from the hypothalamus and contiguous with a thickened proximal infundibulum. Neuro-ophthalmological evaluation was normal. Symptoms improved with hydrocortisone, levothyroxine, and testosterone replacement. After 6 months, transsphenoidal biopsy was performed due to mass enlargement and revealed fibrosis, lymphoplasmacytic infiltration, and CD138 and IgG4 staining. The levels of serum IgG4, complement, inflammatory markers, protein electrophoresis, amylase, and lipase and imaging of the chest, abdomen, and thyroid were unremarkable. After 1 month of prednisone therapy (starting dose 40 mg/day), the mass significantly involuted and remained stable afterward. Prednisone was gradually tapered to 5 mg daily over 10 weeks. During 22 months of follow-up, no systemic IgG4 disease was detected. Glucocorticoid, thyroid, and testosterone replacement was continued. This case of isolated IgG4-related hypophysitis illustrates the variable presentation that may not entail vasopressin deficiency or clinical mass effect. This entity should be considered in the differential diagnosis of suprasellar masses even in the absence of IgG4 systemic disease or characteristic serology. Management entails multidisciplinary collaboration and long-term follow-up.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae182"},"PeriodicalIF":0.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11482006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482391","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