JCEM case reports最新文献_第6页

Proton Stereotactic Body Radiotherapy for Liver Metastases From Malignant Pancreatic Insulinoma. 质子立体定向体放射治疗恶性胰岛素瘤肝转移瘤

JCEM case reports Pub Date : 2024-09-27 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae175

Jake A Kloeber, Daniel K Ebner, Krishan R Jethwa, Kenneth W Merrell, Thorvardur R Halfdanarson, Cameron M Callaghan

{"title":"Proton Stereotactic Body Radiotherapy for Liver Metastases From Malignant Pancreatic Insulinoma.","authors":"Jake A Kloeber, Daniel K Ebner, Krishan R Jethwa, Kenneth W Merrell, Thorvardur R Halfdanarson, Cameron M Callaghan","doi":"10.1210/jcemcr/luae175","DOIUrl":"10.1210/jcemcr/luae175","url":null,"abstract":"Insulin-producing pancreatic tumors are a common subtype of neuroendocrine tumor. Standard of care includes surgical resection of the pancreatic tumor and medical management with somatostatin analogs. For patients with metastatic disease, tumor control and hypoglycemic symptom relief can be achieved through surgical resection of the tumor, hepatic artery embolization, radiofrequency ablation, or radioembolization using radioactive isotopes as well as with systemic therapy such as somatostatin analogs and everolimus. We present the case of a 74-year-old male with metastatic insulin-producing pancreatic carcinoma. After a long history of successfully controlling his hypoglycemic episodes post-liver wedge resection, bland embolizations subsequently failed to maintain control of the frequency and severity of his hypoglycemic symptoms. Stereotactic body radiotherapy (SBRT) with protons was used to achieve symptomatic control and led to partial radiographic response with complete resolution of his hypoglycemic episodes. This case demonstrates the potential utility of proton SBRT in metastatic insulinomas.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae175"},"PeriodicalIF":0.0,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11427829/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333888","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

Androgen and Cortisol Cosecreting Adrenal Adenoma and Tuberculous Lymphadenitis. 分泌雄激素和皮质醇的肾上腺腺瘤与结核性淋巴结炎

JCEM case reports Pub Date : 2024-09-25 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae171

Gabriela Garza-García, José Diego Sánchez-Villa, Flavio Enrique Díaz-Trueba, Miguel Angel Lara-Salazar, Francisco Javier Gómez-Pérez, Alfredo Adolfo Reza-Albarrán

{"title":"Androgen and Cortisol Cosecreting Adrenal Adenoma and Tuberculous Lymphadenitis.","authors":"Gabriela Garza-García, José Diego Sánchez-Villa, Flavio Enrique Díaz-Trueba, Miguel Angel Lara-Salazar, Francisco Javier Gómez-Pérez, Alfredo Adolfo Reza-Albarrán","doi":"10.1210/jcemcr/luae171","DOIUrl":"10.1210/jcemcr/luae171","url":null,"abstract":"The differential diagnosis between malignant and benign adrenal cortical tumors is challenging, and concurrent androgen and cortisol production should raise  suspicion of a malignant tumor. We present the case of a 36-year-old woman who exhibited pronounced hirsutism, clitoromegaly, and secondary amenorrhea. A contrast-enhanced computed tomography (CT) scan revealed a 35 × 27 mm right adrenal mass with unenhanced CT attenuation of 40 Hounsfield units (HUs). The mass exhibited absolute and relative washout rates of 50% and 28%, respectively, and was accompanied by a 25 × 20 mm adenopathy located in the hepatogastric space. Total testosterone was elevated by 247 ng/dL (8.56 nmol/L) (normal reference range, 10-75 ng/dL; 0.34-2.6 nmol/L). A 1-mg dexamethasone suppression test revealed an elevated serum morning cortisol concentration of 10.57 μg/dL (291.58 nmol/L) (reference range, <1.8 μg/dL; < 49.66 nmol/L). A fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) scan revealed increased uptake in both the adrenal mass and the adenopathy. Subsequently, the patient underwent an open right adrenalectomy and lymphadenectomy. Histological examination revealed the presence of an adrenal adenoma with myelolipomatous metaplasia, as well as a positive polymerase chain reaction (PCR) for Mycobacterium tuberculosis in the adenopathy.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae171"},"PeriodicalIF":0.0,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11422775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333882","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

Partial Lipodystrophy Affecting the Extremities in a Young Woman With Autoimmune Polyglandular Syndrome 1. 一名患有自身免疫性多腺体综合征的年轻女性四肢部分脂肪营养不良 1.

JCEM case reports Pub Date : 2024-09-24 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae166

Shubham Agarwal, Aaron Bodansky, Chao Xing, Mark S Anderson, Abhimanyu Garg

{"title":"Partial Lipodystrophy Affecting the Extremities in a Young Woman With Autoimmune Polyglandular Syndrome 1.","authors":"Shubham Agarwal, Aaron Bodansky, Chao Xing, Mark S Anderson, Abhimanyu Garg","doi":"10.1210/jcemcr/luae166","DOIUrl":"10.1210/jcemcr/luae166","url":null,"abstract":"Autoimmune polyglandular syndrome 1 (APS1) is an autosomal recessive disorder due to biallelic pathogenic variants in the autoimmune regulator (AIRE) gene that manifests with chronic mucocutaneous candidiasis, primary hypoparathyroidism, and adrenal insufficiency. We report a 39-year-old woman with APS1 who developed partial lipodystrophy during adulthood. She presented with diaper rashes, oral thrush, and tetany during infancy due to candidiasis and hypoparathyroidism. During childhood, she developed hypothyroidism, primary adrenal insufficiency, and ovarian insufficiency. At age 14, she received a sibling-matched allogenic bone marrow transplant due to multiple antibiotic-refractory fungal infections. At age 35, her serum triglycerides were 914 mg/dL (10.32 mmol/L) and she had loss of subcutaneous fat from the upper and lower extremities and hips. A whole-body dual-energy x-ray absorptiometry revealed lower-extremity fat at less than the first percentile. Whole-exome sequencing on DNA extracted from saliva revealed pathogenic variants, p.Leu28Pro and p.Arg257* in AIRE but none in the known lipodystrophy genes. Phage-immunoprecipitation-sequencing revealed the presence of autoantibodies to MAGEB1, MAGEB4, and RFX6, which have been previously reported in APS1. Our case suggests that patients with APS1 may develop partial lipodystrophy due to autoantibodies against novel adipocyte-expressed proteins. A causal relationship of high levels of autoantibodies in our patient to adipose tissue-expressed ODC1, NUCKS1, or FNBP1L and lipodystrophy remains uncertain.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae166"},"PeriodicalIF":0.0,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11421462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333887","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 Potential Role for Nivolumab in the Treatment of Fibrous Dysplasia-Related Pain. Nivolumab在治疗纤维增生症相关疼痛中的潜在作用

JCEM case reports Pub Date : 2024-09-18 eCollection Date: 2024-10-01 DOI: 10.1210/jcemcr/luae165

Mohammad Jay, Cassandra Hawco, Kristin K Clemens, Stan Van Uum

{"title":"A Potential Role for Nivolumab in the Treatment of Fibrous Dysplasia-Related Pain.","authors":"Mohammad Jay, Cassandra Hawco, Kristin K Clemens, Stan Van Uum","doi":"10.1210/jcemcr/luae165","DOIUrl":"10.1210/jcemcr/luae165","url":null,"abstract":"Fibrous dysplasia (FD) is a chronic and progressive disorder of bone growth because of decreased osteoblast formation and osteoclast overactivity. Its main symptoms include pain, fracture, and irregular bone growth. Bisphosphonates are the mainstay of therapy for FD with a primary goal of pain relief. A 50-year-old woman presented to ophthalmology in March 2011 with intermittent proptosis, vertical diplopia, and orbital pain. A computed tomography scan of the head revealed a skull base lesion, which was confirmed to be fibrous dysplasia on bone biopsy. Because of significant headache, she was treated with IV pamidronate monthly starting November 2011, which led to pain reduction. Repeated attempts to decrease the frequency of pamidronate were unsuccessful because of breakthrough pain. Oral alendronate and risedronate did not control her symptoms. She remained on risedronate however because of its convenience. In August 2021, she was diagnosed with metastatic melanoma and started nivolumab. Her headache completely resolved for the first time in 10 years. Although nivolumab, a programmed death-1 blocker, has been used in the treatment of bone malignancy, it has not been previously studied in FD. By suppressing RANK ligand-related osteoclastogenesis, nivolumab decreases cancer-associated bone pain. Our case suggests a potential role for nivolumab in treating FD-associated pain.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 10","pages":"luae165"},"PeriodicalIF":0.0,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11408923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302657","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

Adrenal Hemangioma. 肾上腺血管瘤

JCEM case reports Pub Date : 2024-09-16 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae162

Ahmed K Elsayes, Steven G Waguespack, Eduardo J Matta, Mindy X Wang

引用次数: 0

Segmental Adrenal Venous Sampling in Unilateral Primary Aldosteronism With Apparent Bilateral Aldosterone Suppression. 单侧原发性醛固酮增多症伴有明显双侧醛固酮抑制的分节肾上腺静脉取样。

JCEM case reports Pub Date : 2024-09-16 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae164

Shotaro Miyamoto, Yuichi Yoshida, Shuhei Miyamoto, Haruto Nishida, Yoshiki Asayama, Hirotaka Shibata

{"title":"Segmental Adrenal Venous Sampling in Unilateral Primary Aldosteronism With Apparent Bilateral Aldosterone Suppression.","authors":"Shotaro Miyamoto, Yuichi Yoshida, Shuhei Miyamoto, Haruto Nishida, Yoshiki Asayama, Hirotaka Shibata","doi":"10.1210/jcemcr/luae164","DOIUrl":"https://doi.org/10.1210/jcemcr/luae164","url":null,"abstract":"Apparent bilateral adrenal suppression (ABAS), where aldosterone/cortisol ratios in both adrenal veins are lower than in the inferior vena cava, yields uninterpretable adrenal venous sampling (AVS) results and is poorly understood. A 57-year-old male with hypertension and spontaneous hypokalemia was admitted to our hospital. Confirmatory tests established a diagnosis of primary aldosteronism (PA). Initial AVS indicated ABAS, but unilateral PA remained possible due to elevated aldosterone, low renin, hypokalemia, and a right adrenal nodule (8 × 7 mm) on computed tomography. Subsequently, a second, super-selective AVS identified tributaries from areas of aldosterone hypersecretion, enabling accurate localization of unilateral PA. ABAS may occur due to anatomical factors such as dilution by tributaries from nonaldosterone-producing adenoma (APA) areas with suppressed aldosterone production. Super-selective AVS proves beneficial in diagnosing unilateral PA concealed within ABAS by pinpointing tributaries from APA regions.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae164"},"PeriodicalIF":0.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11403205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302654","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

Hyperinsulinemic Hypoglycemia Due to an Insulinoma in a 2-Year-Old Child. 一名两岁儿童因胰岛素瘤导致的高胰岛素血症。

JCEM case reports Pub Date : 2024-09-16 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae161

Lauren M Mitteer, Lisa States, Tricia Bhatti, N Scott Adzick, Katherine Lord, Diva D De León

引用次数: 0

Hematologic Malignancies: Two Cases of a Rare Cause of Hypopituitarism. 血液恶性肿瘤：两例罕见的垂体功能减退症病例

JCEM case reports Pub Date : 2024-09-11 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae147

Brian Lauzon, Tala Abu-Hijleh, Natalia McInnes, Ally Prebtani

{"title":"Hematologic Malignancies: Two Cases of a Rare Cause of Hypopituitarism.","authors":"Brian Lauzon, Tala Abu-Hijleh, Natalia McInnes, Ally Prebtani","doi":"10.1210/jcemcr/luae147","DOIUrl":"https://doi.org/10.1210/jcemcr/luae147","url":null,"abstract":"Hematologic malignancies are rare causes of sellar masses and hypopituitarism. We report 2 cases of hypopituitarism due to sellar masses from hematologic malignancies. The first patient was found to have hypopituitarism but initial non-gadolinium-enhanced magnetic resonance imaging (MRI) sella did not demonstrate a mass. Subsequent gadolinium-enhanced MRI and transsphenoidal biopsy confirmed a diagnosis of intravascular lymphoma. Treatment with systemic chemotherapy resulted in resolution of abnormalities on MRI. The second patient had a known diagnosis of chronic lymphocytic leukemia, and sellar involvement contributing to hypopituitarism was confirmed on biopsy. Treatment with ibrutinib, acalabrutinib, and stereotactic radiosurgery resulted in resolution of abnormalities on MRI. Both patients were treated with hormone replacement for hypopituitarism. These cases highlight that hematologic malignancies should be suspected as causes of sellar masses/hypopituitarism in patients with concurrent symptoms atypical for a pituitary adenoma (eg, constitutional symptoms), known diagnoses of hematologic malignancies, or rapid tumor growth and invasion on imaging. Gadolinium-enhanced MRI should be pursued if nonenhanced MRI is nondiagnostic. Transsphenoidal biopsy can be considered for diagnosis. Malignancy-directed systemic therapy may improve hypopituitarism and radiographic abnormalities on MRI.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae147"},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11387999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302651","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

Multiple Primary Paragangliomas in a Pediatric Patient With von Hippel Lindau: A Diagnostic Dilemma. 一名冯-希佩尔-林道（von Hippel Lindau）儿童患者的多发性原发性副神经节瘤：诊断难题。

JCEM case reports Pub Date : 2024-09-09 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae160

Katelin Magnan, Qian Wang, Julia Meade

{"title":"Multiple Primary Paragangliomas in a Pediatric Patient With von Hippel Lindau: A Diagnostic Dilemma.","authors":"Katelin Magnan, Qian Wang, Julia Meade","doi":"10.1210/jcemcr/luae160","DOIUrl":"https://doi.org/10.1210/jcemcr/luae160","url":null,"abstract":"Pheochromocytoma and paragangliomas (PPGLs) are rare chromaffin cell tumors arising from neural crest tissue. The majority of these tumors are nonmetastatic, with complete cure achieved through surgical resection. PPGLs have been associated with several hereditary cancer syndromes, including von Hippel-Lindau (VHL). We present the case of a 10-year-old patient with VHL and a history of 2 asynchronous pheochromocytomas requiring bilateral adrenalectomies who presented with a new 1.2 cm × 1.3 cm × 1.5 cm nodular structure between the superior pole of the right kidney and the intrahepatic inferior vena cava. The patient was noted to have hypertension but was otherwise asymptomatic. Positron emission tomography-DOTA-(Tyr)3-octreotate revealed a metabolically active retrocrural lymph node. Based on these imaging findings and laboratory studies showing elevated plasma normetanephrine, clinical suspicion was highest for metastatic pheochromocytoma. The patient underwent surgical resection of multiple abdominal tumors. Pathology ultimately favored a diagnosis of multiple primary paragangliomas rather than metastatic disease. With this shift in diagnosis, the patient was managed with surgery alone. One year later, he has no signs of disease recurrence. Long-term surveillance imaging and screening with fractionated plasma metanephrines is indicated to monitor for new tumors in the setting of VHL and 3 prior endocrine tumors.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae160"},"PeriodicalIF":0.0,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11382138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302653","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

Diagnosing Primary Hyperparathyroidism in Pregnancy: A Case of Altered Parathyroid Hormone Degradation in Pregnancy. 诊断妊娠期原发性甲状旁腺功能亢进症：一个妊娠期甲状旁腺激素降解改变的病例

JCEM case reports Pub Date : 2024-09-05 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae159

Dianna Luong, Kate Hawke, Elzahn De Waal, Madeline Duke, Penny Wolski

{"title":"Diagnosing Primary Hyperparathyroidism in Pregnancy: A Case of Altered Parathyroid Hormone Degradation in Pregnancy.","authors":"Dianna Luong, Kate Hawke, Elzahn De Waal, Madeline Duke, Penny Wolski","doi":"10.1210/jcemcr/luae159","DOIUrl":"10.1210/jcemcr/luae159","url":null,"abstract":"Diagnosing primary hyperparathyroidism in pregnancy is difficult due to pregnancy-related changes in parathyroid hormone (PTH); calcium; 1,25 vitamin D; and renal calcium excretion. Parathyroid hormone-related peptide (PTHrP) produced by the placenta adds additional complexity. Our case is the first to demonstrate an increased rate of PTH degradation within a pregnant individual who returned unexpectedly low PTH levels. We describe a 27-year-old female patient who presented at 25 weeks gestation with pancreatitis and hypercalcemia. Primary hyperparathyroidism was suspected but variable PTH results led to uncertainty and an assay error was considered. PTH samples were collected in both serum-separating tubes (SST) and EDTA tubes and compared to controls (5 nonpregnant and 5 pregnant individuals). Samples were retested every 2 hours for a period of 10 hours. A rapid decline in the measured PTH was noted in the index case, an observation which differed from controls. We postulated that internal and/or external factors influenced the PTH measurement obtained from our patient. From our observations, rapid PTH degradation in pregnancy, and individual variation in PTH stability and laboratory processes, can influence PTH results and impact on interpreting hypercalcemia in pregnancy.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae159"},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141934","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