JCEM case reports最新文献_第2页

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

Giant Intracranial Meningiomas Requiring Surgery in 2 Transgender Women Treated With Cyproterone Acetate. 用醋酸环丙孕酮治疗两名变性女性需要手术的巨大颅内脑膜瘤。

JCEM case reports Pub Date : 2024-10-16 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae173

Matthew I Balcerek, Rachel Hovelroud, Matthew Ruhl, Brendan J Nolan

{"title":"Giant Intracranial Meningiomas Requiring Surgery in 2 Transgender Women Treated With Cyproterone Acetate.","authors":"Matthew I Balcerek, Rachel Hovelroud, Matthew Ruhl, Brendan J Nolan","doi":"10.1210/jcemcr/luae173","DOIUrl":"https://doi.org/10.1210/jcemcr/luae173","url":null,"abstract":"Progestin-associated meningioma is a rare complication of cyproterone acetate (CPA), an anti-androgen commonly prescribed in feminizing hormone therapy regimens for transgender and gender-diverse individuals. A dose-response association has been observed, particularly with longer-term exposure to doses ≥ 50 mg daily; however, the dose below which CPA use is safe remains unclear. We herein report the cases of 2 transgender women using CPA who developed meningioma. Novel aspects of our cases include: (i) the presence of symptomatic giant meningiomas (> 5 cm), including multiple meningiomas in one patient, requiring urgent surgical intervention; (ii) meningioma development with both high-dose, long duration and low-dose, shorter duration CPA; and (iii) the presence of a PIK3CA missense variant in one patient, which may play a role in the pathogenesis of progestin-associated meningioma. Our cases highlight the real-world risk of this likely underreported adverse effect and underscore the importance of clinician vigilance for neurological sequelae. We suggest using the lowest dose of CPA that maintains adequate androgen suppression, with consideration of alternative anti-androgens where appropriate.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae173"},"PeriodicalIF":0.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11482003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482390","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

Thyrotroph Hyperplasia Caused by Severe Primary Hypothyroidism Leading to Adrenal Crisis. 由严重原发性甲状腺功能减退症引起的甲状腺增生症导致肾上腺危机

JCEM case reports Pub Date : 2024-10-16 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae187

Yasser Hakami, Abdulaziz AlJaman

引用次数: 0

Identification of Lipomatous Metaplasia in a Cortisol-secreting Adrenocortical Adenoma Treated With Mifepristone. 在用米非司酮治疗的皮质醇分泌型肾上腺皮质腺瘤中发现脂肪瘤变。

JCEM case reports Pub Date : 2024-10-07 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae151

Abhinav K Rao, Trang Minh Thi Nguyen, Jenna Brennan Magri, Joseph Wolfgang Mathews

{"title":"Identification of Lipomatous Metaplasia in a Cortisol-secreting Adrenocortical Adenoma Treated With Mifepristone.","authors":"Abhinav K Rao, Trang Minh Thi Nguyen, Jenna Brennan Magri, Joseph Wolfgang Mathews","doi":"10.1210/jcemcr/luae151","DOIUrl":"https://doi.org/10.1210/jcemcr/luae151","url":null,"abstract":"Adrenal adenomas are benign tumors of the adrenal cortex that may secrete excess hormones, such as cortisol. They are most commonly discovered during imaging studies for unrelated problems. Lipomatous metaplasia is a rare degenerative change in adrenal adenomas, characterized by the presence of adipose tissue and hematopoietic elements within the tumor. In this report, we present a case of an adrenal adenoma with lipomatous metaplasia in a patient with hypertension, hyperlipidemia, and type II diabetes mellitus. The discovery of this adrenal mass was prompted by an evaluation of the patient's progressive hirsutism. The tumor was found to be secreting cortisol, leading to Cushing syndrome. The patient subsequently underwent surgical resection of the mass after being treated with mifepristone. The histopathological examination confirmed it to be an adrenal cortical neoplasm with lipomatous metaplasia, characterized by uncertain malignant potential. The patient did well postoperatively. Three months after left adrenalectomy, the patient's hirsutism, A1c, and hypertension improved, allowing a reduction in antihypertensives. Her body mass index stabilized, her triglyceride decreased, and her dehydroepiandrosterone sulfate level normalized. She continued to do well at follow-up visits. Overall, this was a rare case of a functioning adrenal adenoma with lipomatous metaplasia, presenting both diagnostic and therapeutic challenges.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae151"},"PeriodicalIF":0.0,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11456839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395744","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

Short Stature in Klinefelter Syndrome From Aggrecan Mutation. 由 Aggrecan 基因突变导致的 Klinefelter 综合症患者身材矮小

JCEM case reports Pub Date : 2024-10-03 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae170

Antoinette Farrell, Sunitha R Sura

引用次数: 0

Challenging Diagnostic Workup of a 22-year-old Patient With Primary Pigmented Nodular Adrenocortical Disease. 一名 22 岁原发性色素结节性肾上腺皮质病患者的诊断工作面临挑战。

JCEM case reports Pub Date : 2024-10-01 DOI: 10.1210/jcemcr/luae174

Jakob Wernig, Stefan Pilz, Christian Trummer, Verena Theiler-Schwetz, Lisa Maria Schmitt, Oleksiy Tsybrovskyy

{"title":"Challenging Diagnostic Workup of a 22-year-old Patient With Primary Pigmented Nodular Adrenocortical Disease.","authors":"Jakob Wernig, Stefan Pilz, Christian Trummer, Verena Theiler-Schwetz, Lisa Maria Schmitt, Oleksiy Tsybrovskyy","doi":"10.1210/jcemcr/luae174","DOIUrl":"10.1210/jcemcr/luae174","url":null,"abstract":"Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome (CS), presenting diagnostic challenges due to its rarity and its difficult clinical differentiation from other causes of CS. Here, we report the case of a 22-year-old female who developed classical symptoms of hypercortisolism including progressive weight gain, moon facies, and various skin manifestations. Despite biochemical screening confirming ACTH-independent CS, imaging modalities including computed tomography and magnetic resonance imaging showed normal adrenal gland morphology, complicating the localization of cortisol hypersecretion. Subsequent nuclear imaging methods were not indicative of ectopic cortisol production until adrenal vein sampling (AVS) conclusively identified the adrenal glands as the only possible source of cortisol hypersecretion. Eventually, bilateral adrenalectomy led to a significant improvement in symptoms. Pathological examination confirmed the diagnosis of PPNAD, and genetic testing revealed a mutation in the PRKAR1A gene associated with the Carney complex. This case highlights the importance of considering rare etiologies in hypercortisolism diagnosis and describes their challenging diagnostic workup and the utility of AVS in localizing cortisol hypersecretion in PPNAD patients.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae174"},"PeriodicalIF":0.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11443333/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142360735","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