JCEM case reports最新文献

Primary Burkitt Lymphoma of the Thyroid Associated With Hashimoto Thyroiditis Masquerading as Post-COVID Thyroiditis. 原发性甲状腺伯基特淋巴瘤与桥本甲状腺炎相关，伪装为covid后甲状腺炎。

JCEM case reports Pub Date : 2025-08-14 eCollection Date: 2025-09-01 DOI: 10.1210/jcemcr/luaf178

Yotsapon Thewjitcharoen, Waralee Chatchomchuan, Ekgaluck Wanothayaroj, Veekij Veerasomboonsin, Somboon Keelawat, Thep Himathongkam

{"title":"Primary Burkitt Lymphoma of the Thyroid Associated With Hashimoto Thyroiditis Masquerading as Post-COVID Thyroiditis.","authors":"Yotsapon Thewjitcharoen, Waralee Chatchomchuan, Ekgaluck Wanothayaroj, Veekij Veerasomboonsin, Somboon Keelawat, Thep Himathongkam","doi":"10.1210/jcemcr/luaf178","DOIUrl":"10.1210/jcemcr/luaf178","url":null,"abstract":"Primary thyroid lymphoma accounts for only 2% to 5% of all thyroid tumors, and Burkitt lymphoma of the thyroid is even rarer than other types of B-cell lymphoma. It is a highly aggressive non-Hodgkin lymphoma characterized by intermediate-sized lymphoid cells with a \"starry sky\" appearance and exhibits chromosomal translocations that activate the MYC oncogene. A male predominance and an aggressive clinical course with a high risk of central nervous system involvement and tumor lysis syndrome are all well-recognized features of Burkitt lymphoma. We present a case of a 28-year-old man with primary Burkitt lymphoma of the thyroid initially misdiagnosed as post-COVID thyroiditis. Core needle biopsy showed round, intermediate-sized lymphoid cells admixed with scattered tingible body macrophages displaying a \"starry sky\" appearance. Following the final histological diagnosis of primary thyroid Burkitt lymphoma, the patient received intensive chemotherapy. Six months after the diagnosis, the patient succumbed to disease progression, causing upper airway obstruction. Primary Burkitt lymphoma of the thyroid can cause pain and other symptoms due to the rapidly growing mass in the neck. Adequate pathological diagnosis with core needle biopsy rather than fine needle aspiration is essential for treatment planning and outcome improvement.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 9","pages":"luaf178"},"PeriodicalIF":0.0,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12352296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144877145","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

Two Cases of Primary Hyperparathyroidism During Pregnancy and Post-Partum. 妊娠及产后原发性甲状旁腺功能亢进2例。

JCEM case reports Pub Date : 2025-08-14 eCollection Date: 2025-09-01 DOI: 10.1210/jcemcr/luaf177

F N U Varsha, Michael Grimes, Gayatri Jaiswal, Patricia Bononi

{"title":"Two Cases of Primary Hyperparathyroidism During Pregnancy and Post-Partum.","authors":"F N U Varsha, Michael Grimes, Gayatri Jaiswal, Patricia Bononi","doi":"10.1210/jcemcr/luaf177","DOIUrl":"10.1210/jcemcr/luaf177","url":null,"abstract":"Primary hyperparathyroidism (PHPT) is rare in pregnancy and poses diagnostic challenges due to overlapping symptoms. This case series highlights diagnostic and management challenges in pregnant patients. Case 1: A 42-year-old woman at 33 weeks' gestation exhibited severe nausea and fatigue. Laboratory testing revealed elevated calcium 13.2 mg/dL (3.29 mmol/L) (reference range, 8.4-10.3 mg/dL [2.2-2.6 mmol/L]) and parathyroid hormone (PTH) 215 pg/mL (23.89 nmol/L) (reference range, 11-68 pg/mL [SI: 1.6-7.2 pmol/L]). Neck ultrasound identified bilateral parathyroid adenomas and abdominal ultrasound showed polyhydramnios. Parathyroidectomy resulted in calcium drop to 9.5 mg/dL (2.27 mmol/L) and PTH to 12 pg/mL (1.33 pmol/L). She delivered a healthy infant. Case 2: A 39-year-old woman at 39 weeks' underwent a cesarean delivery due to transverse fetal lie. She had high prepartum calcium of 14.2 mg/dL (3.55 mmol/L) and PTH 319 pg/mL (33.81 pmol/L). Post pregnancy, bilateral neck exploration and left inferior parathyroid excision decreased calcium to 8.9 mg/dL (2.22 mmol/L) and PTH to 16.5 pg/mL (1.75 pmol/L). These cases highlight that symptom severity-not just calcium level-should guide parathyroidectomy. Third-trimester surgery can be safely performed when symptomatic; asymptomatic patients may be managed expectantly. Early recognition and individualized management optimize maternal and fetal outcomes.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 9","pages":"luaf177"},"PeriodicalIF":0.0,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12351268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144877146","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

Response to Letter to the Editor from Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy". 对Finsterer致编辑的信的回应“线粒体疾病的不同表型与不同水平的异质性”。

JCEM case reports Pub Date : 2025-07-01 eCollection Date: 2025-08-01 DOI: 10.1210/jcemcr/luaf128

Rebecca John, Aaron Chapla, Geeta Chacko, Sangeetha Yoganathan, Maya Mary Thomas, Nihal Thomas

引用次数: 0

Functional Suppression of a Prolactinoma by a Dopamine-Secreting Paraganglioma. 分泌多巴胺的副神经节瘤对泌乳素瘤的功能抑制。

JCEM case reports Pub Date : 2025-04-22 eCollection Date: 2025-06-01 DOI: 10.1210/jcemcr/luaf080

Tamaryn Fox, Leor Needleman, Krishna L Bharani, Frederick Mihm, Justin P Annes, Julia J Chang

{"title":"Functional Suppression of a Prolactinoma by a Dopamine-Secreting Paraganglioma.","authors":"Tamaryn Fox, Leor Needleman, Krishna L Bharani, Frederick Mihm, Justin P Annes, Julia J Chang","doi":"10.1210/jcemcr/luaf080","DOIUrl":"10.1210/jcemcr/luaf080","url":null,"abstract":"Prolactin-secreting pituitary adenomas are typically treated with dopamine agonists to inhibit prolactin secretion and reduce tumor size. Dopamine-secreting paragangliomas are rare neuroendocrine tumors of sympathetic and parasympathetic paraganglia and often do not provoke symptoms of catecholamine excess. Although overlapping genetic drivers have been described for paragangliomas and pituitary adenomas, biochemical crosstalk between coexisting tumors is underexplored. We describe the case of a 52-year-old male individual who presented with cerebrospinal fluid (CSF) rhinorrhea and was found to have an invasive, 4.2-cm pituitary mass with modestly elevated prolactin (130.9 ng/mL [130.9 µg/L], reference range [RR] 2-18 ng/mL [2-18 µg/L]). Additional imaging discovered a mediastinal mass suspicious for a thoracic paraganglioma. Biochemical screening demonstrated marked elevation of plasma and urinary dopamine. Following paraganglioma resection, dopamine levels normalized, but prolactin rose significantly (877.8 ng/mL [877.8 µg/L]), suggesting an endogenous dopamine agonist-like effect from the paraganglioma to suppress pituitary prolactin hypersecretion. Pituitary pathology was notable for a PIT1 (pituitary transcription factor-1)-lineage pituitary adenoma with absent immunohistochemical staining for prolactin. Genetic testing found a previously unreported germline SDHC variant of uncertain significance. In this case, we report a novel biologic signaling mechanism between 2 rare primary endocrine tumors and highlight challenges in their diagnosis and management.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 6","pages":"luaf080"},"PeriodicalIF":0.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058102","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

Zenker Diverticulum Masquerading as a Thyroid Nodule. Zenker憩室伪装成甲状腺结节。

JCEM case reports Pub Date : 2025-04-17 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf064

Yotsapon Thewjitcharoen, Soontaree Nakasatien, Veekij Veerasomboonsin, Thep Himathongkam

引用次数: 0

Hypertension and Carcinoid Heart Disease as Initial Manifestations of Ovarian Carcinoid Tumor. 高血压和类癌性心脏病是卵巢类癌肿瘤的初始表现。

JCEM case reports Pub Date : 2025-04-17 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf073

Andreia Martins Fernandes, Sara Reis, Catarina Neves, David Prieto, Paulo Aldinhas, Raquel G Martins

{"title":"Hypertension and Carcinoid Heart Disease as Initial Manifestations of Ovarian Carcinoid Tumor.","authors":"Andreia Martins Fernandes, Sara Reis, Catarina Neves, David Prieto, Paulo Aldinhas, Raquel G Martins","doi":"10.1210/jcemcr/luaf073","DOIUrl":"https://doi.org/10.1210/jcemcr/luaf073","url":null,"abstract":"Ovarian carcinoid tumors (OCTs) are rare and may cause carcinoid syndrome (CS) even in the absence of liver metastases. Carcinoid heart disease (CHD), which develops in up to 50% of patients with CS, substantially affects morbidity and mortality. While prognosis is generally favorable, maintaining clinical suspicion and early diagnosis is crucial to prevent the development of advanced heart failure or metastases. We present a case of a woman exhibiting asthenia, diarrhea, and de novo severe hypertension. Echocardiography revealed typical features of CHD. Elevated urinary levels of 5-hydroxyindoleacetic acid (5-HIAA) corroborated the diagnosis of CS. 68Ga-DOTANOC positron emission tomography computed tomography identified a suspicious left pelvic mass, which was subsequently confirmed by magnetic resonance imaging. Surgical resection of the tumor was performed, followed by tricuspid valve replacement surgery, confirming the diagnosis of OCT associated with CS and CHD. Postoperative follow-up revealed considerable clinical improvement, and the patient has remained free of recurrence. This case underscores the complex cardiovascular involvement in CS, with secondary hypertension as the initial symptomatic manifestation, which improved following resection of OCT. Additionally, it highlights the role of CS in the pathogenesis of severe tricuspid valve dysfunction, which ultimately required cardiac surgery.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 5","pages":"luaf073"},"PeriodicalIF":0.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003261/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999932","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

Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility. Cantú伴有肢端肥大症特征、多种内分泌病变和感染易感性的综合征。

JCEM case reports Pub Date : 2025-04-15 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf068

David Nygren, Ulrika Moll, Oscar Braun, Ulf Karlsson, Göran Jönsson

{"title":"Cantú Syndrome With Acromegaloid Features, Multiple Endocrinopathies, and Infection Susceptibility.","authors":"David Nygren, Ulrika Moll, Oscar Braun, Ulf Karlsson, Göran Jönsson","doi":"10.1210/jcemcr/luaf068","DOIUrl":"https://doi.org/10.1210/jcemcr/luaf068","url":null,"abstract":"Cantú syndrome involves fetal polyhydramniosis, congenital hypertrichosis, and macrosomia. Distinctive features include acromegaloid features with broad nasal bridge and macroglossia as well as cardiac abnormalities, including patent ductus arteriosus. We present a case in a male patient, who presented with cardiac abnormalities in childhood, but was diagnosed with the syndrome in adulthood after many years of atypical symptoms such as multiple endocrinopathies and infection susceptibility. He had surgery for a patent ductus arteriosus in early childhood. During adulthood, he developed idiopathic pericarditis. Extensive rheumatological investigations were made, and in parallel, several endocrinopathies were found. These included thyroiditis with subsequent hypothyroidism, idiopathic partial hypocortisolism, and GH insufficiency. In addition, he had mild neutropenia and required hospitalization twice because of Streptococcus pyogenes infections. Immunodeficiency screening has not revealed a specific primary immunodeficiency, yet transient neutropenia, low count of CD8+ effector memory T cells, as well as lymphocyte responses, was seen during bacteremia. The diagnose was made after a trio-whole genome sequencing identified a pathogenic missense variant of the gene ABCC9 (c.3460C > T;p. (Arg1154Trp)) causing Cantú syndrome.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 5","pages":"luaf068"},"PeriodicalIF":0.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11997666/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051756","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

Pulmonary Fibrosis in a Patient With a Prolactinoma on Dopamine Agonists: Coincidence or Consequence. 多巴胺激动剂治疗催乳素瘤患者肺纤维化：巧合或后果。

JCEM case reports Pub Date : 2025-04-15 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf067

Ravi Shah, Amanjit Bal, Durairaj Arjunan, Jayaditya Ghosh, Ashley B Grossman, Pinaki Dutta

{"title":"Pulmonary Fibrosis in a Patient With a Prolactinoma on Dopamine Agonists: Coincidence or Consequence.","authors":"Ravi Shah, Amanjit Bal, Durairaj Arjunan, Jayaditya Ghosh, Ashley B Grossman, Pinaki Dutta","doi":"10.1210/jcemcr/luaf067","DOIUrl":"https://doi.org/10.1210/jcemcr/luaf067","url":null,"abstract":"Prolactinomas are the most common functional pituitary tumor and are typically managed with dopamine agonists such as bromocriptine or cabergoline. Although these agents are generally well tolerated and effective in reducing prolactin levels and often tumor size, they have been implicated in rare but serious fibrotic complications, including interstitial lung disease (ILD). We describe a 65-year-old man with a longstanding prolactinoma who received cumulative high-dose bromocriptine and cabergoline therapy over several decades. Despite initial tumor shrinkage and partial biochemical control of hyperprolactinemia with dopamine agonists, stereotactic radiosurgery, and transsphenoidal surgery, the patient developed progressive exertional dyspnea and cough, accompanied by imaging and histopathological findings consistent with \"usual interstitial pneumonia\" (UIP). Autoimmune and environmental causes were largely excluded, suggesting a drug-induced etiology. Following discontinuation of cabergoline, the patient has been on continued surveillance of his prolactin levels and tumor status, with symptomatic treatment of his UIP. This case underscores the potential for dopamine agonist-associated ILD, even in patients with prolactinomas who generally receive lower weekly doses than those used in Parkinson's and related diseases. Early recognition of respiratory symptoms, pulmonary function, and radiological investigations are indicated in selected symptomatic cases.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 5","pages":"luaf067"},"PeriodicalIF":0.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11997647/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043924","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

Severe Hypercalcemia Associated With Perinatal Hypophosphatasia While Receiving Enzyme Replacement Therapy. 接受酶替代治疗时伴有围产期低磷酸症的严重高钙血症。

JCEM case reports Pub Date : 2025-04-15 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf066

Mostafa Salama, Alaa Al Nofal, Peter Tebben

{"title":"Severe Hypercalcemia Associated With Perinatal Hypophosphatasia While Receiving Enzyme Replacement Therapy.","authors":"Mostafa Salama, Alaa Al Nofal, Peter Tebben","doi":"10.1210/jcemcr/luaf066","DOIUrl":"https://doi.org/10.1210/jcemcr/luaf066","url":null,"abstract":"Hypophosphatasia (HPP) is characterized by defective bone mineralization due to reduced function of tissue-nonspecific alkaline phosphatase (TNSALP) caused by pathogenic ALPL gene variants. Hypercalcemia is more common in the perinatal and infantile forms and may be mitigated or prevented with enzyme replacement therapy asfotase alfa (AA). Here, we report a patient who developed severe hypercalcemia while receiving AA. Hypercalcemia was initially managed with intravenous fluids, dietary calcium restriction, and maximizing AA dose. Despite these measures, she required an additional hospital admission, at which time calcitonin 4 IU/kg every 12 hours was initiated. On this regimen, her calcium normalized without recurrence of severe hypercalcemia. Over the subsequent 8 months, restrictions of calcium intake were slowly lifted, and calcitonin was tapered and discontinued with maintenance of calcium within the normal range. This case underscores the significance of vigilant monitoring of calcium levels and dietary intake in infants diagnosed with HPP. While calcitonin is typically not considered as a sustained treatment for hypercalcemia, the present case illustrates the efficacy of adjunct calcitonin therapy, in conjunction with restricted calcium intake and maximum AA dosing, in managing severe hypercalcemia in an infant with perinatal HPP.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 5","pages":"luaf066"},"PeriodicalIF":0.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11997545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993359","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

Hepatomegaly in an Adult With Type 1 Diabetes Mellitus: Mauriac Syndrome Still Exists in a Developed Country. 成人1型糖尿病患者肝肿大：毛里亚克综合征在发达国家仍然存在。

JCEM case reports Pub Date : 2025-04-15 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf070

Kaveh Fekri, Yalda Soleimanifard, John Y Jun

{"title":"Hepatomegaly in an Adult With Type 1 Diabetes Mellitus: Mauriac Syndrome Still Exists in a Developed Country.","authors":"Kaveh Fekri, Yalda Soleimanifard, John Y Jun","doi":"10.1210/jcemcr/luaf070","DOIUrl":"https://doi.org/10.1210/jcemcr/luaf070","url":null,"abstract":"We report a case of a 19-year-old male with type 1 diabetes mellitus (T1DM) diagnosed at age 2 years, childhood growth retardation, and multiple admissions for diabetic ketoacidosis, presenting with hepatomegaly and elevated liver transaminase. His hemoglobin A1c (HbA1c) was 13.1% (reference range, < 5.7%). Massive hepatomegaly without splenomegaly was noted and accompanied by significant liver enzyme derangement, and lactatemia. Extensive viral, serologic, genetic, and metabolic tests to identify the etiology of hepatomegaly were unrevealing. A liver biopsy showed microvesicular and macrovesicular steatosis with periportal and lobular inflammation consistent with glycogenic hepatopathy (GH) of Mauriac syndrome. A continuous subcutaneous insulin infusion therapy was initiated and gradually titrated. With an improvement in HbA1c down to 9.2% over 9 months, liver transaminase levels became normalized. The current report includes a thorough evaluation of causes of hepatomegaly in an adult with T1DM and highlights the importance of glycemic control in ameliorating GH.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 5","pages":"luaf070"},"PeriodicalIF":0.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11997650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045820","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