JCEM case reports最新文献_第2页

A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome. 一个罕见的急性胰腺炎的原因：两个兄弟姐妹与维尔纳综合征。

JCEM case reports Pub Date : 2025-04-10 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf061

Kenan Sakar, Baris Akinci, Ilgin Yildirim Simsir, Tahir Atik, Gulhan Akbaba, Nese Cinar

引用次数: 0

Iododerma Following Radioactive Iodine Therapy in Thyroid Cancer: Insights From 2 Cases. 甲状腺癌放射性碘治疗后的碘皮病2例分析。

JCEM case reports Pub Date : 2025-04-10 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf056

Hawra Kamal, Julie Samantray

{"title":"Iododerma Following Radioactive Iodine Therapy in Thyroid Cancer: Insights From 2 Cases.","authors":"Hawra Kamal, Julie Samantray","doi":"10.1210/jcemcr/luaf056","DOIUrl":"https://doi.org/10.1210/jcemcr/luaf056","url":null,"abstract":"Radioactive iodine ablation is commonly used to treat thyroid diseases. However, despite its efficacy, it has inherent risks and complications. One such complication is iododerma. This rare dermatological condition triggered by iodine exposure has been infrequently documented in association with radioactive iodine therapy for thyroid diseases. Here, we present 2 cases of iododerma following radioactive iodine ablation for thyroid cancer. In the first case, a 38-year-old female developed facial swelling and red blotchy rashes accompanied by papules on the left upper eyelid. Despite initial worsening of symptoms, the patient improved after prednisone treatment. In the second case, a 71-year-old male with metastatic follicular thyroid cancer received iodine-131 therapy after levothyroxine withdrawal for pulmonary metastasis. Approximately 1 week posttherapy, he developed a nontender, nonpruritic rash on the extremities and anterior abdomen, which spontaneously resolved without intervention. Iododerma presents diagnostic challenges because of its rarity and diverse cutaneous manifestations. Although its exact pathophysiology remains unclear, it has been hypothesized to be induced by hypersensitivity reactions to and delayed clearance of iodine from the body. Physicians should be aware of this rare complication of radioactive iodine in patients with thyroid disease.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 5","pages":"luaf056"},"PeriodicalIF":0.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11982607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045823","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

Recurrent Hypoglycemic Coma Episodes Associated With Primary Biliary Cirrhosis. 与原发性胆汁性肝硬化相关的反复低血糖昏迷发作。

JCEM case reports Pub Date : 2025-04-10 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf030

Yang Liu, Jianbin Xu, Yimei Chen, Lingling Wang, Wen Chen, Jing Shen

引用次数: 0

A Corticotropin-Secreting Adenoma in the Setting of von Hippel-Lindau Disease. 希佩尔-林道病并发促肾上腺皮质激素分泌腺瘤。

JCEM case reports Pub Date : 2025-04-10 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf055

Xiaoxue Chen, Yue Zhou, Lin Lu, Ming Feng, Linjie Wang, Anli Tong

{"title":"A Corticotropin-Secreting Adenoma in the Setting of von Hippel-Lindau Disease.","authors":"Xiaoxue Chen, Yue Zhou, Lin Lu, Ming Feng, Linjie Wang, Anli Tong","doi":"10.1210/jcemcr/luaf055","DOIUrl":"https://doi.org/10.1210/jcemcr/luaf055","url":null,"abstract":"Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by germline pathogenic variants of the VHL gene, which can lead to abnormal growth of blood vessels and cause the development of benign or malignant tumors, as well as cysts in diverse organs. To date, no case reports have documented adrenocorticotropic hormone (ACTH)-secreting adenomas in individuals with VHL disease. We present the case of a 19-year-old female individual with VHL disease who developed an ACTH-secreting adenoma alongside hemangioblastomas in the central nervous system (CNS) and cystic lesions in diverse organ systems. Genetic testing and immunohistochemistry of the pituitary tumor were performed. Genetic testing revealed that the patient carried the familial germline pathogenic variant located in the first exon of the VHL gene (c.227_229del, p.76delF). Immunohistochemical staining of the pituitary tumor demonstrated positive for ACTH, chromogranin A, and synaptophysin, with Ki-67 index at 3%. In addition, tumor cells showed scattered immunoreactivity for the α subunit of hypoxia-inducible factor (HIF-1α). This case suggests that VHL disease might be associated with ACTH-secreting adenomas and broadens the tumor spectrum.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 5","pages":"luaf055"},"PeriodicalIF":0.0,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11982611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060005","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

Hypercortisolism Due to Paraganglioma Secreting Adrenocorticotropin and Catecholamines. 副神经节瘤分泌促肾上腺皮质激素和儿茶酚胺所致的高皮质醇症。

JCEM case reports Pub Date : 2025-04-10 eCollection Date: 2025-05-01 DOI: 10.1210/jcemcr/luaf052

Drew W Cox, Aleona C Zuzek, Matthew Genco, Tammy Holm, Shailendra B Patel

引用次数: 0

Insulinoma Mimic: Tramadol-induced Hypoglycemia. 胰岛素瘤模拟：曲马多诱导的低血糖。

JCEM case reports Pub Date : 2025-03-13 eCollection Date: 2025-03-01 DOI: 10.1210/jcemcr/luaf034

Shannon O'Hara, Tyler Hinshaw, Mathew McKenzie, Victoria Belcher, Ian McCoy, Adnan Haider

{"title":"Insulinoma Mimic: Tramadol-induced Hypoglycemia.","authors":"Shannon O'Hara, Tyler Hinshaw, Mathew McKenzie, Victoria Belcher, Ian McCoy, Adnan Haider","doi":"10.1210/jcemcr/luaf034","DOIUrl":"10.1210/jcemcr/luaf034","url":null,"abstract":"Endogenous hyperinsulinemia hypoglycemia has numerous etiologies. The objective of this report is to describe a patient with severe hyperinsulinemic hypoglycemia with no known history of diabetes or hypoglycemia who presented with acute altered mental status. Blood glucose was noted to be 40 mg/dL (2.22 mmol/L) (reference range 65-125 mg/dL; 3.61-6.94 mmol/L). The patient's sulfonylurea screen was negative. Following 1 mg glucagon injection, the patient's glucose did not improve, a response inconsistent with insulinoma. Imaging studies of the pancreas did not show pancreatic mass. Two weeks before the presentation, the patient started on tramadol for back pain with the dose increased 3 days prior to presentation. The patient's hypoglycemia resolved and returned to baseline 4 days after the initial presentation. Tramadol has been reported to cause hypoglycemia, especially in the elderly population. Tramadol may act on μ receptors on β cells to upregulate insulin secretion. When approaching a patient with endogenous hyperinsulinemia, one should consider tramadol or other analgesics as a possible etiology.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 3","pages":"luaf034"},"PeriodicalIF":0.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627023","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 Rare Case of PRKACA Duplication-Associated Childhood-Onset Primary Pigmented Nodular Adrenocortical Disease. 一例罕见的与PRKACA重复基因相关的儿童期原发性色素结节性肾上腺皮质疾病。

JCEM case reports Pub Date : 2025-03-10 eCollection Date: 2025-03-01 DOI: 10.1210/jcemcr/luaf035

Padala Ravi Kumar, Bandana Dash, Deepak Kumar Dash, Debasish Patro, Jatin Kumar Majhi, Bhabani Sankar Dhal

{"title":"A Rare Case of PRKACA Duplication-Associated Childhood-Onset Primary Pigmented Nodular Adrenocortical Disease.","authors":"Padala Ravi Kumar, Bandana Dash, Deepak Kumar Dash, Debasish Patro, Jatin Kumar Majhi, Bhabani Sankar Dhal","doi":"10.1210/jcemcr/luaf035","DOIUrl":"10.1210/jcemcr/luaf035","url":null,"abstract":"Primary pigmented nodular adrenocortical disease (PPNAD) is a rare but important cause of adrenocorticotropic hormone (ACTH)-independent Cushing syndrome (CS). It usually presents as cyclical CS in young adults. Childhood onset of PPNAD is exceedingly rare. About 90% of cases of PPNAD are associated with Carney complex (CNC). Both PPNAD and CNC are linked to diverse pathogenic variants of the PRKAR1A gene, which encodes the regulatory subunit type 1 alpha of protein kinase A (PKA). Pathogenic variants of PRKACA gene, which encodes the catalytic subunit alpha of PKA, are extremely rare in PPNAD. We report a case of a female child, aged 8 years and 3 months, who presented with features suggestive of CS, including obesity, short stature, hypertension, moon facies, acne, and facial plethora but without classical striae or signs of CNC. Hormonal evaluation confirmed ACTH-independent CS. However, abdominal imaging revealed normal adrenal morphology. Genetic analysis identified a duplication of the PRKACA gene on chromosome 19p, which is linked to PPNAD. The patient underwent bilateral laparoscopic adrenalectomy, and histopathological study confirmed the PPNAD diagnosis. Postoperative follow-up showed resolution of cushingoid features and hypertension. To our knowledge, this is the first reported case of a female child with PRKACA duplication presenting as CS due to PPNAD.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 3","pages":"luaf035"},"PeriodicalIF":0.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11891440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143598422","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 Amiodarone-Induced Thyrotoxicosis in 2 Patients Who Required Plasmapheresis Before Thyroidectomy. 重度胺碘酮致甲状腺毒症2例甲状腺切除术前血浆置换。

JCEM case reports Pub Date : 2025-03-10 eCollection Date: 2025-03-01 DOI: 10.1210/jcemcr/luaf043

Morgane Ducarme, Jessika Scaillet, Mickaël De Cubber, Emmanuel Chasse

引用次数: 0

Bilateral Adrenal Leiomyomas in a Pediatric Patient. 小儿双侧肾上腺平滑肌瘤1例。

JCEM case reports Pub Date : 2025-03-07 eCollection Date: 2025-03-01 DOI: 10.1210/jcemcr/luaf029

Ricardo A Caravantes, Miranda Matzer, Mischelle Lopez, Kevin D Santizo, Brígida Hernandez, Isabella Santamarina

引用次数: 0

Transient Neonatal Hypothyroidism Followed by Hyperthyroidism Due to Maternal Thyrotropin Receptor Antibodies. 母亲促甲状腺素受体抗体引起的新生儿短暂性甲状腺功能减退继发甲状腺功能亢进。

JCEM case reports Pub Date : 2025-03-07 eCollection Date: 2025-03-01 DOI: 10.1210/jcemcr/luaf040

Mark Garrelfs, Gerdine A Kamp, A S Paul van Trotsenburg

{"title":"Transient Neonatal Hypothyroidism Followed by Hyperthyroidism Due to Maternal Thyrotropin Receptor Antibodies.","authors":"Mark Garrelfs, Gerdine A Kamp, A S Paul van Trotsenburg","doi":"10.1210/jcemcr/luaf040","DOIUrl":"10.1210/jcemcr/luaf040","url":null,"abstract":"Maternal thyroid dysfunction can negatively influence fetal and/or neonatal thyroid hormone homeostasis. Autoantibodies associated with autoimmune thyroid disease can cross the placenta. TSH receptor antibodies (TRAbs) can either stimulate or block the TSH receptor, and both types of antibodies can be present in the same person. TRAbs are the most important antibodies in Graves' disease but are also found in a percentage of women with Hashimoto disease. Properties of the dominant TRAb type (stimulating or blocking) will generally dictate the clinical picture. We describe a rare case of neonatal hypothyroidism followed by hyperthyroidism caused by maternal TRAbs, associated with Hashimoto disease. In contrast to similar cases, the mother was not treated with antithyroid drugs, providing evidence for the gradually changing balance between blocking and stimulating TRAbs after birth and their different effects on neonatal thyroid function. This case highlights the need for regular thyroid function tests in neonates with high TRAb titers until maternal antibodies are cleared.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 3","pages":"luaf040"},"PeriodicalIF":0.0,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11886562/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588556","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