JCEM case reports最新文献

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

Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for Diagnosis. 迟发性进行性骨异质增生：2例不相关病例及使用正电子发射断层扫描诊断。

JCEM case reports Pub Date : 2025-02-25 eCollection Date: 2025-03-01 DOI: 10.1210/jcemcr/luae204

Minh T Pham, John D Mahan, Summit H Shah, Steven I Estes, Stephen G Kaler

引用次数: 0

Avascular Necrosis in Patients With Cushing Syndrome. 库欣综合征患者的缺血性坏死。

JCEM case reports Pub Date : 2025-02-05 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf001

Noa Tal, Serguei Bannykh, Thomas Learch, Adam N Mamelak, Odelia Cooper

{"title":"Avascular Necrosis in Patients With Cushing Syndrome.","authors":"Noa Tal, Serguei Bannykh, Thomas Learch, Adam N Mamelak, Odelia Cooper","doi":"10.1210/jcemcr/luaf001","DOIUrl":"10.1210/jcemcr/luaf001","url":null,"abstract":"Cushing syndrome (CS) results from prolonged exposure to excess glucocorticoids, leading to a range of clinical manifestations including avascular necrosis (AVN), a rare complication of CS. Although AVN is often associated with exogenous glucocorticoid treatment, it can occur in endogenous CS but may be unrecognized because of its rarity and possibly from a subclinical presentation. We describe a case of a 71-year-old male with florid Cushing disease who initially presented with bilateral hip AVN and later developed bilateral shoulder AVN despite achieving biochemical remission following transsphenoidal surgery and adjuvant stereotactic photon radiosurgery. AVN in endogenous CS is underreported, and guidance on routine screening is lacking. Our case underscores the importance of considering AVN in patients with CS, especially in those with persistent or recurrent joint symptoms and markedly elevated cortisol levels. Early detection of AVN is crucial as it can lead to irreversible joint damage and disability if untreated. Screening strategies should be explored to identify high-risk patients who are diagnosed with CS for timely intervention, thereby preventing long-term morbidity associated with AVN.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf001"},"PeriodicalIF":0.0,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11795648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257526","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

Retained Continuous Glucose Monitor Sensor Wire Fragments Presenting as a Swollen Nodule of the Thigh. 残留的连续血糖监测传感器导线碎片表现为大腿肿胀结节。

JCEM case reports Pub Date : 2025-02-05 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luae253

Lily Deng, Laura Galganski, Mansa Krishnamurthy

引用次数: 0

A Novel and Rare Pathogenic Gene Variant in 2 Patients With Multiple Endocrine Neoplasia Type 1 (MEN-1) Syndrome. 2例多发性内分泌肿瘤1型（MEN-1）综合征患者中一种新的罕见致病基因变异。

JCEM case reports Pub Date : 2025-02-04 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf003

Jordan C LeSarge, Hani Rjoob, Kristin K Clemens, Stan Van Uum, Laila C Schenkel, Tayyab S Khan

{"title":"A Novel and Rare Pathogenic Gene Variant in 2 Patients With Multiple Endocrine Neoplasia Type 1 (MEN-1) Syndrome.","authors":"Jordan C LeSarge, Hani Rjoob, Kristin K Clemens, Stan Van Uum, Laila C Schenkel, Tayyab S Khan","doi":"10.1210/jcemcr/luaf003","DOIUrl":"10.1210/jcemcr/luaf003","url":null,"abstract":"Multiple endocrine neoplasia type 1 (MEN-1) is a syndrome characterized by development of tumors including parathyroid adenomas, duodenopancreatic neuroendocrine tumors, and pituitary adenomas. We describe 1 patient with a novel and another with a rare pathogenic MEN-1 variant. Case 1 was a 61-year-old woman with recurrent hypercalcemia who ultimately required a subtotal parathyroidectomy, with a thymectomy revealing a thymoma. She then developed a gastrinoma requiring pancreatectomy and also had a biochemically nonfunctioning sellar mass. Genetic testing found a novel MEN1:c.1192delC, p.(Gln398Argfs*47) pathogenic variant. Case 2 was a 38-year-old woman with a family history of MEN-1, who had recurrent hypercalcemia and nephrolithiasis requiring a subtotal parathyroidectomy. She had a macroprolactinoma, but no pancreatic lesions. Genetic testing found a rare MEN1:c.784-9G > A pathogenic variant. MEN-1 syndrome should be considered in patients presenting with 1 or more classical MEN-1-associated tumors based on clinical suspicion.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf003"},"PeriodicalIF":0.0,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11791340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191407","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

46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism. 46,XX 睾丸性发育障碍 (DSD) 表现为男性性腺功能减退症。

JCEM case reports Pub Date : 2025-02-04 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luae237

Run Ting Chin, Shao Feng Mok

引用次数: 0