JCEM case reports最新文献

Channelopathy linking KCNH2 mutation and primary aldosteronism: a case of life-threatening torsades de pointes. 连接KCNH2突变和原发性醛固酮增多症的通道病：一个危及生命的点扭转病例。

JCEM case reports Pub Date : 2026-04-28 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag123

Saran Dejprapasorn, Sunti Limumpornpetch, Watchara Lohawijarn, Pongsakorn Choochuen, Wongsakorn Chaochankit, Padiporn Limumpornpetch

{"title":"Channelopathy linking KCNH2 mutation and primary aldosteronism: a case of life-threatening torsades de pointes.","authors":"Saran Dejprapasorn, Sunti Limumpornpetch, Watchara Lohawijarn, Pongsakorn Choochuen, Wongsakorn Chaochankit, Padiporn Limumpornpetch","doi":"10.1210/jcemcr/luag123","DOIUrl":"https://doi.org/10.1210/jcemcr/luag123","url":null,"abstract":"Primary aldosteronism (PA) typically presents with hypertension and hypokalemia; however, its presentation as life-threatening ventricular arrhythmias is rare and often underrecognized. We report a case of a 30-year-old woman who presented with polymorphic ventricular tachycardia manifesting as torsades de pointes. Laboratory findings revealed persistent hypokalemia, metabolic alkalosis, suppressed renin, and inappropriately elevated aldosterone. Because recurrent malignant arrhythmia conferred a high immediate risk of sudden cardiac death, genetic testing for inherited arrhythmia syndromes was initiated, and an implantable cardioverter-defibrillator was implanted for secondary prevention before genetic confirmation became available. Endocrine evaluation proceeded concurrently and ultimately established the diagnosis of PA. Subsequent genetic analysis identified a pathogenic splice-site variant in KCNH2, consistent with congenital long QT syndrome type 2 (LQTS2). A review of the literature identified 16 previously reported cases of PA-associated ventricular arrhythmia, which showed a consistent association with hypokalemia and hypertension; however, none included genetic evaluation. This case highlights the need for parallel endocrine and arrhythmia evaluation in patients with unexplained ventricular arrhythmias.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag123"},"PeriodicalIF":0.0,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13122025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791362","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

Double filtration plasmapheresis in antithyroid drug-refractory Graves disease with a massive goiter. 双滤过血浆置换在抗甲状腺药物难治性Graves病伴巨大甲状腺肿中的应用。

JCEM case reports Pub Date : 2026-04-28 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag095

Miku Yamazaki, Hiroyuki Uchinuma, Yuka Yokota, Hiroki Ishii, Takeshi Moriguchi, Kyoichiro Tsuchiya

引用次数: 0

Acute use of teriparatide and palopegteriparatide in the management of hungry bone syndrome following parathyroidectomy. 急性使用特立帕肽和palopegteripar肽治疗甲状旁腺切除术后的饥饿骨综合征。

JCEM case reports Pub Date : 2026-04-28 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag089

Sarah Jacob, Jennifer Rowell, Nicole Sagalla

引用次数: 0

Fatal metformin-associated lactic acidosis in a healthy woman after massive overdose. 过量服用二甲双胍致健康女性致死性乳酸性酸中毒

JCEM case reports Pub Date : 2026-04-28 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag109

Elif Unal Kaya, Mert Ali Kaya

{"title":"Fatal metformin-associated lactic acidosis in a healthy woman after massive overdose.","authors":"Elif Unal Kaya, Mert Ali Kaya","doi":"10.1210/jcemcr/luag109","DOIUrl":"https://doi.org/10.1210/jcemcr/luag109","url":null,"abstract":"Metformin is widely prescribed for type 2 diabetes mellitus and is generally considered safe. However, metformin-associated lactic acidosis (MALA) is a rare but potentially fatal complication. Although typically associated with renal or hepatic dysfunction, intentional overdose can also lead to severe acidosis and high mortality. A 42-year-old woman with no medical history ingested 12 g of metformin in a suicide attempt. She presented with stable vital signs and normal renal and hepatic function. Initial arterial blood gas showed metabolic acidosis (pH 7.21, HCO3 - 12 mmol/L, lactate 8 mmol/L). Intermittent hemodialysis was initiated, but her acidosis worsened. She developed hypotension requiring norepinephrine and subsequently deteriorated neurologically. Despite 2 hemodialysis sessions, she progressed to cardiac arrest and died. This case demonstrates that massive metformin overdose can overwhelm normal metabolic and clearance mechanisms, resulting in refractory lactic acidosis. Even with early hemodialysis, tissue sequestration of metformin and ongoing mitochondrial dysfunction may sustain lactate overproduction. Massive metformin overdose can be fatal even in healthy individuals. Close monitoring is essential, and prolonged or continuous renal replacement therapies may be warranted when initial dialysis fails to correct severe acidosis.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag109"},"PeriodicalIF":0.0,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13122023/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791374","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

Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia. 软骨毛发育不全女孩骨骼发育不良的延迟诊断。

JCEM case reports Pub Date : 2026-04-28 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag102

Petra Loid, Eleni P Kotanidou, Vasiliki Rengina Tsinopoulou, Assimina Galli-Tsinopoulou, Outi Mäkitie

{"title":"Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia.","authors":"Petra Loid, Eleni P Kotanidou, Vasiliki Rengina Tsinopoulou, Assimina Galli-Tsinopoulou, Outi Mäkitie","doi":"10.1210/jcemcr/luag102","DOIUrl":"https://doi.org/10.1210/jcemcr/luag102","url":null,"abstract":"Short stature is the most common reason for endocrinological investigations during childhood. With the expanding spectrum of recognized genetic causes for abnormal growth, establishing the correct diagnosis is often challenging. We present a 12-year-old girl who was first evaluated for short stature (<3rd percentile) and short fingers at age 2 years. Skeletal radiographs showed mild long bone metaphyseal abnormalities. She had slightly thin hair, unilateral elbow dislocations, and genu varum but no hematologic abnormalities or signs of immunodeficiency. Growth hormone testing and other endocrine investigations were normal. At age 12 years, when her height was -3.0 SD score, skeletal dysplasia was considered, and genetic testing revealed compound heterozygosity for 2 RMRP variants (n.97_98dup and n.-25_-12dup), confirming the diagnosis of cartilage-hair hypoplasia (CHH), a recessive skeletal dysplasia. Retrospective review of early radiographs showed that diagnostic features were present already at the first assessment. The described patient is the first reported case of CHH in Greece. The delayed diagnosis led to several unnecessary investigations. This case highlights the importance of considering skeletal dysplasia in children with short stature. Early diagnosis of CHH is important for careful follow-up because of increased risk for immunodeficiency and malignancies.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag102"},"PeriodicalIF":0.0,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13122024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791446","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 dual hormone-secreting pulmonary neuroendocrine tumor causing concurrent Cushing syndrome and acromegaly. 罕见的双激素分泌肺神经内分泌肿瘤并发库欣综合征和肢端肥大症。

JCEM case reports Pub Date : 2026-04-27 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag092

Dogga Sudhakar, Sourav Debnath, Nishant Jain, Naveen Sharma, Mahaveer Singh

{"title":"A rare case of dual hormone-secreting pulmonary neuroendocrine tumor causing concurrent Cushing syndrome and acromegaly.","authors":"Dogga Sudhakar, Sourav Debnath, Nishant Jain, Naveen Sharma, Mahaveer Singh","doi":"10.1210/jcemcr/luag092","DOIUrl":"https://doi.org/10.1210/jcemcr/luag092","url":null,"abstract":"Dual ectopic secretion of adrenocorticotropic hormone (ACTH) and growth hormone-releasing hormone (GHRH) by a single neuroendocrine tumor (NET) is extremely rare. We report a 43-year-old woman presenting with acral enlargement, weight gain, hyperpigmentation, and proximal muscle weakness. Laboratory evaluation revealed elevated cortisol, ACTH, and insulin-like growth factor 1 (IGF-1), consistent with concurrent Cushing syndrome and acromegaly. Imaging demonstrated a left hilar mass, and biopsy confirmed a pulmonary NET with immunohistochemical (IHC) positivity for synaptophysin and chromogranin. Pituitary magnetic resonance imaging (MRI) showed diffuse hyperplasia, suggesting trophic stimulation rather than a primary pituitary adenoma. Surgical resection resulted in normalization of hormone levels, marked clinical improvement, and regression of pituitary enlargement. Although direct histologic confirmation of tumor-derived GHRH was unavailable, the reversible pituitary hyperplasia favors ectopic GHRH-mediated stimulation rather than primary ectopic GH secretion. IHC of the resected tumor demonstrated ACTH positivity, supporting ectopic ACTH secretion. This case highlights the importance of recognizing dual hormone-secreting NETs in patients presenting with overlapping endocrine syndromes, as early detection and complete resection can lead to remission.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag092"},"PeriodicalIF":0.0,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13112421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791214","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

Tirzepatide-associated hyponatremia in a patient with known arginine vasopressin deficiency. 已知精氨酸抗利尿激素缺乏患者的替西肽相关性低钠血症。

JCEM case reports Pub Date : 2026-04-27 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag110

Carmela Caputo

引用次数: 0

Multifocal papillary thyroid carcinoma with RET p.V804M, EML4-ALK fusion, and BRAF V600E positivity. 多灶性甲状腺乳头状癌伴RET p.V804M、EML4-ALK融合、BRAF V600E阳性。

JCEM case reports Pub Date : 2026-04-24 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag072

Jacob Beiriger, Leonard E Estephan, Lubna Zuberi, Stacey Gargano, Elizabeth Cottrill

{"title":"Multifocal papillary thyroid carcinoma with RET p.V804M, EML4-ALK fusion, and BRAF V600E positivity.","authors":"Jacob Beiriger, Leonard E Estephan, Lubna Zuberi, Stacey Gargano, Elizabeth Cottrill","doi":"10.1210/jcemcr/luag072","DOIUrl":"https://doi.org/10.1210/jcemcr/luag072","url":null,"abstract":"Multifocal papillary thyroid cancer (PTC) can arise from independent primaries with discordant drivers in parallel clonal evolution rather than a single-clone pattern. We present a 31-year-old female with multifocal PTC harboring 3 distinct oncogenic alterations: a germline RET p.V804M mutation, low-frequency EML4-ALK fusion, and BRAF V600E mutation. The RET and ALK alterations were identified in a midpole nodule, whereas BRAF positivity was seen in a separate lower pole tumor. Ultrasound revealed multiple right-lobe thyroid nodules; the dominant 2.1-cm lesion was hypoechoic with calcifications. Fine needle aspiration revealed Bethesda III cytology, prompting thyroid lobectomy and an ipsilateral central neck dissection was performed. Histopathology confirmed multifocal PTC and a background of chronic lymphocytic thyroiditis with 23 lymph nodes negative for metastasis. This case presents heterogeneity of oncogenic drivers in PTC and the potential value of comprehensive molecular profiling in risk stratification and management.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag072"},"PeriodicalIF":0.0,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13107181/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791401","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

Small bowel obstruction from metastatic small intestinal neuroendocrine tumor managed solely with somatostatin analog. 单纯用生长抑素类似物治疗转移性小肠神经内分泌肿瘤引起的小肠梗阻。

JCEM case reports Pub Date : 2026-04-24 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag120

Ziad Taher, Ranim Andijani, Suhaib Radi

引用次数: 0

Iatrogenic Cushing syndrome. 医源性库欣综合征。

JCEM case reports Pub Date : 2026-04-24 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag073

Prerna Dogra, Michele C Canale

引用次数: 0