Endocrinology, Diabetes and Metabolism Case Reports最新文献

筛选
英文 中文
Pheochromocytoma and primary hyperparathyroidism: a very rare association in a neurofibromatosis type 1 patient unmasked by Takotsubo syndrome. 嗜铬细胞瘤和原发性甲状旁腺功能亢进:在Takotsubo综合征发现的1型神经纤维瘤病患者中非常罕见的关联。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2026-04-29 Print Date: 2026-04-01 DOI: 10.1530/EDM-25-0109
Nuno Faria, Valentim Lopes, Tamara Pereira, Olga Azevedo, António Lourenço, Adriana De Sousa Lages, Catarina Martins Machado
{"title":"Pheochromocytoma and primary hyperparathyroidism: a very rare association in a neurofibromatosis type 1 patient unmasked by Takotsubo syndrome.","authors":"Nuno Faria, Valentim Lopes, Tamara Pereira, Olga Azevedo, António Lourenço, Adriana De Sousa Lages, Catarina Martins Machado","doi":"10.1530/EDM-25-0109","DOIUrl":"10.1530/EDM-25-0109","url":null,"abstract":"<p><strong>Summary: </strong>Neurofibromatosis type 1 is an autosomal dominant disease characterized by cutaneous, bone, and neurocognitive manifestations and an increased risk of neoplasms - more frequently cutaneous neurofibromas and optic gliomas and more rarely pheochromocytomas/paragangliomas, solitary parathyroid adenomas with primary hyperparathyroidism, and breast carcinomas. We present a case of a 48-year-old woman with an unexpected presentation of Takotsubo syndrome that culminated in a synchronous diagnosis of pheochromocytoma, primary hyperparathyroidism, and invasive breast carcinoma (pN2(R0)N1) in the context of previously unknown neurofibromatosis type 1. The patient underwent simultaneous right adrenalectomy and lower parathyroidectomy nearly one month after left lumpectomy with axillary ganglion dissection. No complications were reported after adequate alpha- and beta-adrenergic blockade before or during both surgical interventions. Furthermore, after definitive treatment of catecholamine hypersecretion, postoperative chemoradiotherapy was required. Our case highlights the importance of differential diagnosis with multiple endocrine neoplasia type 2 and the relevance of multidisciplinary teams in the management of complications associated with neurofibromatosis type 1, namely those related to neoplasms.</p><p><strong>Learning points: </strong>Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by cutaneous, bone, and neurocognitive manifestations and an increased risk of neoplasms, namely pheochromocytomas/paragangliomas, solitary parathyroid adenomas, and breast carcinomas. Pheochromocytomas/paragangliomas (PPGLs) occur in up to 15% of patients. Pheochromocytomas can rarely present as Takotsubo syndrome (TS), and the occurrence of TS in NF1 patients is even rarer. In addition, the co-occurrence of PPGLs and primary hyperparathyroidism (PHPT) in NF1 is very infrequent, mimicking MEN 2A syndrome. This is the first case described in the literature of a patient with NF1 and a synchronous diagnosis of pheochromocytoma, PHPT, and breast carcinoma, highlighting the relevance of a high level of suspicion of all the nosological entities that can be associated with NF1 in order to allow an early diagnosis.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13150325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147783160","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
Use of PRRT and osilodrostat for ectopic Cushing syndrome secondary to thymic neuroendocrine neoplasm. 胸腺神经内分泌肿瘤继发异位库欣综合征的应用。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2026-04-28 Print Date: 2026-04-01 DOI: 10.1530/EDM-25-0138
Monica Majumder, Stephen Clarke, Elizabeth Bernard, Venessa H M Tsang
{"title":"Use of PRRT and osilodrostat for ectopic Cushing syndrome secondary to thymic neuroendocrine neoplasm.","authors":"Monica Majumder, Stephen Clarke, Elizabeth Bernard, Venessa H M Tsang","doi":"10.1530/EDM-25-0138","DOIUrl":"10.1530/EDM-25-0138","url":null,"abstract":"<p><strong>Summary: </strong>We present a case of recurrent thymic neuroendocrine neoplasm (NEN) in a 43-year-old male, who developed ectopic Cushing syndrome (CS), 8 years after his initial diagnosis. Due to persistent biochemical hypercortisolism and clinical symptoms of CS, he was trialled on multiple adrenal steroidogenesis inhibitors with surgical resection and radiotherapy. Eventually, he was transitioned to osilodrostat, a new potent adrenal steroidogenesis inhibitor. Following multidisciplinary discussion, he underwent peptide receptor radionuclide therapy (PRRT). After 12 months of therapy, his cortisol levels have normalised. This is a novel case of functional thymic NEN that was biochemically responsive to osilodrostat and PRRT. Osilodrostat predominantly blocks 11-β hydroxylase leading to a reduction in biochemical hypercortisolism and improvement in clinical manifestations. Initial evidence supported its role in the setting of Cushing's disease. There is growing evidence for its use in the setting of ectopic CS as observed with our case. PRRT continues to have a role in the setting of functional NENs.</p><p><strong>Learning points: </strong>Ectopic CS is a rare, functional syndrome most often seen with neuroendocrine tumours. Management relies on treatment of the primary pathology as well as hypercortisolism, for which there are new novel agents available including osilodrostat. Directed therapies such as peptide receptor radionuclide therapy can have favourable outcomes in addressing metabolic and biochemical disease in the setting of ectopic CS.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13150335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147783656","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
Familial isolated 17,20-lyase deficiency in three siblings caused by a CYP17A1 mutation. 家族性分离的17,20-裂解酶缺乏症在三个兄弟姐妹中由CYP17A1突变引起。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2026-04-27 Print Date: 2026-04-01 DOI: 10.1530/EDM-25-0168
Maryam Haider, Bushra Rehman, Muhammad Nasheet Sagri, Saher Uneeb, Fozia Memon, Khadija Nuzhat Humayun
{"title":"Familial isolated 17,20-lyase deficiency in three siblings caused by a CYP17A1 mutation.","authors":"Maryam Haider, Bushra Rehman, Muhammad Nasheet Sagri, Saher Uneeb, Fozia Memon, Khadija Nuzhat Humayun","doi":"10.1530/EDM-25-0168","DOIUrl":"10.1530/EDM-25-0168","url":null,"abstract":"<p><strong>Summary: </strong>17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, inherited in an autosomal recessive manner. The CYP17A1 gene on chromosome 10 encodes cytochrome P450c17, a single bifunctional enzyme with both 17α-hydroxylase activity (essential for cortisol synthesis) and 17,20-lyase activity (essential for sex steroid synthesis). Mutations in CYP17A1 can impair either or both activities, resulting in a clinical spectrum ranging from combined 17α-hydroxylase/17,20-lyase deficiency to isolated 17,20-lyase deficiency. We report a case of three siblings, all raised as females, who presented with bilateral inguinal swellings at variable ages in early childhood. The karyotype was 46,XY in all three siblings, and genetic testing confirmed a homozygous CYP17A1 mutation. Initially labeled as combined 17α-hydroxylase/17,20-lyase deficiency, the clinical course and preserved cortisol levels favored isolated 17,20-lyase deficiency, a rarer variant within the same enzyme spectrum. All three children subsequently underwent gonadectomy, were reared as females, and were planned for estrogen replacement therapy at puberty. This case was particularly challenging as all three siblings were affected, causing significant emotional and psychosocial distress for the parents. A multidisciplinary approach was adopted, and gender of rearing was assigned early with great sensitivity and ethical caution, in alignment with our cultural context, where parents are the primary decision-makers.</p><p><strong>Learning points: </strong>The clinical course may evolve over time, refining the initial diagnosis, as seen in our patients, where follow-up biochemical evaluation clarified the presence of isolated 17,20-lyase deficiency despite an initial genetic finding consistent with combined 17α-hydroxylase/17,20-lyase deficiency. Consanguinity significantly increases the recurrence risk of rare autosomal recessive disorders, as demonstrated in this family; this highlights the crucial role of early genetic testing, familial screening, and genetic counseling in high-risk populations. Management of disorders of sex development (DSD) within individual cultural settings requires sensitivity, ethical caution, and multidisciplinary coordination tailored to the cultural practices ensuring that decisions around sex of rearing prioritize both medical appropriateness and long-term psychosocial well-being.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13150334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784119","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
Non-functioning adrenocortical carcinoma presenting as acute spontaneous retroperitoneal haemorrhage. 无功能肾上腺皮质癌表现为急性自发性腹膜后出血。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2026-04-24 Print Date: 2026-04-01 DOI: 10.1530/EDM-25-0085
Christopher Chan, Renee C F Chan, Mawson Wang
{"title":"Non-functioning adrenocortical carcinoma presenting as acute spontaneous retroperitoneal haemorrhage.","authors":"Christopher Chan, Renee C F Chan, Mawson Wang","doi":"10.1530/EDM-25-0085","DOIUrl":"10.1530/EDM-25-0085","url":null,"abstract":"<p><strong>Summary: </strong>Adrenocortical carcinomas (ACCs) are a very rare entity with an incidence of approximately 0.5-2 cases per million per year. They are often difficult to diagnose clinically, attributing to non-specific signs and symptoms, especially with non-functioning tumours, with histopathology required for confirmatory diagnosis. Atraumatic adrenal haemorrhage has been described in the literature as a rare presentation of ACC. We describe a case of a gentleman in his fifties presenting with acute spontaneous unilateral adrenal haemorrhage on a background of a pre-existing known incidental adrenal nodule that was lost to follow-up. The patient underwent angio-embolisation and subsequent laparoscopic adrenalectomy, with histopathology demonstrating ACC. This report aims to highlight adrenal haemorrhage as a presenting feature of ACC and stress the importance of close follow-up and thorough initial investigation of adrenal nodules to ascertain their underlying aetiology and ultimately prevent delay in appropriate management.</p><p><strong>Learning points: </strong>Follow-up is essential for adrenal nodules with unclear aetiology to ensure timely investigation and risk stratification, preventing potential harm from delayed management of non-benign conditions. Spontaneous adrenal haemorrhage is a rare but potential presentation of ACC. There needs to be a high index of suspicion for malignancy with atypical presentations of adrenal nodules. Adjuvant mitotane may not improve recurrence and overall survival in low-risk patients, but may be indicated in patients at a higher risk of recurrence.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13130872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147782930","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
Discordant sestamibi uptake in synchronous parathyroid carcinoma and adenoma. 同时性甲状旁腺癌和腺瘤中sestamibi摄取不一致。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2026-04-15 Print Date: 2026-04-01 DOI: 10.1530/EDM-26-0001
Qian Wang, Xiang Zhou, Ruigang Lu, Hong Shen, Bojun Wei
{"title":"Discordant sestamibi uptake in synchronous parathyroid carcinoma and adenoma.","authors":"Qian Wang, Xiang Zhou, Ruigang Lu, Hong Shen, Bojun Wei","doi":"10.1530/EDM-26-0001","DOIUrl":"10.1530/EDM-26-0001","url":null,"abstract":"<p><strong>Summary: </strong>The simultaneous occurrence of parathyroid carcinoma, parathyroid adenoma, and papillary thyroid carcinoma is exceptionally rare. Herein, we present an uncommon case in which the right malignant parathyroid lesion was 99mTc-MIBI-negative and the contralateral benign parathyroid lesion was 99mTc-MIBI-positive, which was confirmed by pathological examination postoperatively. In addition, we performed bilateral internal jugular venous sampling of PTH (IJ PTH), and the results showed that the IJ PTH was higher on the side of 99mTc-MIBI-negative lesion than on the other side. These findings suggest that 99mTc-MIBI-negative lesions with ipsilateral high IJ PTH should be highly suspected of parathyroid carcinoma in the setting of patients with two suspicious parathyroid lesions detected by cervical ultrasonography or computed tomography. No germline mutations associated with hereditary endocrine tumors were identified by whole-exome sequencing.</p><p><strong>Learning points: </strong>Parathyroid carcinoma can appear negative on 99mTc-sestamibi scintigraphy; therefore, comprehensive evaluation with both ultrasound and computed tomography is essential. In cases with discordant imaging and multiple lesions, bilateral internal jugular venous parathyroid hormone sampling serves as a decisive adjunct to guide en bloc resection when carcinoma is suspected. Preoperative evaluation for concurrent thyroid nodules is recommended during parathyroid surgery planning to avoid the need for secondary neck procedures.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13097266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147692916","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
Cardiac arrest as the initial presentation of thyrotoxicosis in a young woman. 心脏骤停作为甲状腺毒症的最初表现在一个年轻的女人。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2026-04-13 Print Date: 2026-04-01 DOI: 10.1530/EDM-25-0176
Maria Helena Siqueira Tavares de Melo, Maxim John Levy Barnett, Maria L M Rego, Evan Isaacs, Elilta Desta, Ana Rivadeneira
{"title":"Cardiac arrest as the initial presentation of thyrotoxicosis in a young woman.","authors":"Maria Helena Siqueira Tavares de Melo, Maxim John Levy Barnett, Maria L M Rego, Evan Isaacs, Elilta Desta, Ana Rivadeneira","doi":"10.1530/EDM-25-0176","DOIUrl":"10.1530/EDM-25-0176","url":null,"abstract":"<p><strong>Summary: </strong>Thyroid storm is a life-threatening endocrine emergency characterized by severe thyrotoxicosis and multisystem decompensation. Cardiovascular involvement is common and the leading cause of mortality, most commonly presenting with atrial fibrillation or high-output heart failure. Malignant ventricular arrhythmias, however, are exceedingly rare, reported in 0.07% of hospitalizations for thyroid dysfunction and 13% of patients with thyroid storm admitted to intensive care units. We present a case of a previously healthy young woman with uncontrolled Graves' disease who developed out-of-hospital cardiac arrest due to ventricular fibrillation. Coronary angiography revealed diffuse coronary vasospasm without obstructive coronary artery disease, suggesting myocardial ischemia as the precipitating mechanism. She achieved complete neurological and hemodynamic recovery following resuscitation, initiation of antithyroid therapy, beta-blockade, corticosteroids, and restoration of euthyroidism. This case underscores the potential of thyroid storm to induce life-threatening ventricular arrhythmias through a combination of coronary vasospasm, sympathetic overactivity, and altered myocardial excitability. Recognition of thyrotoxicosis as a potential cause of cardiac arrest is crucial, particularly in patients without structural heart disease, since early diagnosis and timely treatment are key to survival and prevention of recurrence.</p><p><strong>Learning points: </strong>Ventricular fibrillation and cardiac arrest, even in patients without structural heart disease, can be a presentation of thyroid storm. Coronary vasospasm represents a potential mechanism linking thyrotoxicosis to malignant ventricular arrhythmias. Prompt recognition and restoration of euthyroidism are essential for reversing hemodynamic instability and preventing recurrence. Nonadherence to antithyroid therapy remains a major preventable trigger of thyroid storm.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13097262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677377","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
TRPV6-related intrauterine calciopenic rickets: a case report and literature review. trpv6相关性宫内缺钙佝偻病1例报告并文献复习。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2026-04-08 Print Date: 2026-04-01 DOI: 10.1530/EDM-25-0192
Geoffrey Chek-Fei Yu, Queenie Wing-Shan See, Mimi Tin-Yan Seto
{"title":"TRPV6-related intrauterine calciopenic rickets: a case report and literature review.","authors":"Geoffrey Chek-Fei Yu, Queenie Wing-Shan See, Mimi Tin-Yan Seto","doi":"10.1530/EDM-25-0192","DOIUrl":"10.1530/EDM-25-0192","url":null,"abstract":"<p><strong>Summary: </strong>We report a female Chinese neonate with antenatal rickets and secondary hyperparathyroidism who was found to have novel compound heterozygous TRPV6 variants (c.1160G>A and c.658C>T). She was treated with calcium, phosphate and vitamin D supplementation, achieving full biochemical and radiographic recovery by age two years. The review of all 14 reported cases confirms a consistent phenotype of neonatal secondary hyperparathyroidism with universal parathyroid hormone (PTH) elevation, frequent fractures and respiratory distress. Excellent outcomes are achieved with supplementation. The correlation between vitamin D deficiency and hypocalcaemia in these neonates suggests that maternal vitamin D status may modify disease severity.</p><p><strong>Learning points: </strong>TRPV6 mutations should be considered a rare cause of neonatal prenatal rickets and secondary hyperparathyroidism, even in the presence of normocalcaemic hyperparathyroidism. Prognosis is excellent with early mineral and vitamin D supplementation. Multidisciplinary care is essential for diagnosis, management and follow-up. Maternal vitamin D status may modulate disease severity, suggesting that prenatal supplementation could be beneficial.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13087865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147639705","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
Drug cross-reactivity between methimazole and propylthiouracil causing recurrent pancreatitis in thyroid storm. 甲巯咪唑与丙硫脲嘧啶药物交叉反应性引起甲状腺风暴患者复发性胰腺炎。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2026-04-03 Print Date: 2026-04-01 DOI: 10.1530/EDM-25-0135
Yuriko Yamazaki, Junichiro Adachi, Yurika Ishihara, Yuto Moriwaki, Wataru Muraoka, Sho Miyashita, Yuki Okuno, Takashi Omura, Yoshihiko Izumida
{"title":"Drug cross-reactivity between methimazole and propylthiouracil causing recurrent pancreatitis in thyroid storm.","authors":"Yuriko Yamazaki, Junichiro Adachi, Yurika Ishihara, Yuto Moriwaki, Wataru Muraoka, Sho Miyashita, Yuki Okuno, Takashi Omura, Yoshihiko Izumida","doi":"10.1530/EDM-25-0135","DOIUrl":"10.1530/EDM-25-0135","url":null,"abstract":"<p><strong>Summary: </strong>Drug-induced pancreatitis represents 1.1% of acute pancreatitis cases. To date, eight cases of antithyroid drug (ATD)-induced pancreatitis have been reported, including seven associated with methimazole (MMI) and one with carbimazole; however, no cases related to propylthiouracil (PTU) have been reported in the literature. We report a patient with thyroid storm who developed acute pancreatitis during MMI therapy, with recurrence following PTU substitution, suggesting cross-reactivity between antithyroid agents. The patient demonstrated elevated serum immunoglobulin G4 (IgG4) concentrations. The clinical presentation and imaging findings (onset during corticosteroid therapy and absence of specific computed tomography findings) supported a diagnosis of drug-induced rather than IgG4-related autoimmune pancreatitis. However, IgG4-mediated autoimmune hyperactivity may predispose to immunological cross-reactions between antithyroid drugs. In patients with MMI-induced pancreatitis and elevated IgG4 levels, PTU cross-reactivity should be anticipated. Alternative therapies, including potassium iodide, radioactive iodine ablation, or thyroidectomy, warrant consideration when immunological dysfunction is suspected based on elevated IgG4 concentrations.</p><p><strong>Learning points: </strong>If abdominal pain, nausea, or vomiting occurs during drug therapy for Graves' disease, drug-induced pancreatitis should be considered in the differential diagnosis. If pancreatitis develops during treatment with MMI, switching to PTU should be approached with caution due to the potential for cross-reactivity - and vice versa. In the event that MMI or PTU results in adverse effects, alternative therapeutic modalities should be considered, including radioactive iodine (131I) therapy or surgical interventions. These considerations should be informed by the concomitant increase in IgG4 concentration.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147634632","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 silent aggressor: disseminated histoplasmosis with laryngeal and adrenal involvement in a diabetic patient. 一个无声的侵略者:糖尿病患者伴有喉部和肾上腺的弥散性组织胞浆菌病。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2026-04-02 Print Date: 2026-04-01 DOI: 10.1530/EDM-25-0137
Ayushi Singhal, Subhash B Yadav, Dharmendra Singh Bhadauria, Rungmei S K Marak, Manoj Jain
{"title":"A silent aggressor: disseminated histoplasmosis with laryngeal and adrenal involvement in a diabetic patient.","authors":"Ayushi Singhal, Subhash B Yadav, Dharmendra Singh Bhadauria, Rungmei S K Marak, Manoj Jain","doi":"10.1530/EDM-25-0137","DOIUrl":"10.1530/EDM-25-0137","url":null,"abstract":"<p><strong>Summary: </strong>A 65-year-old male with poorly controlled type 2 diabetes mellitus presented with 7 months of progressive hoarseness of voice, fever, anorexia, cough, and weight loss. Just before admission, he developed drowsiness and memory impairment. Examination showed a drowsy but stable patient without meningeal signs and hyperpigmentation. Persistent hoarseness prompted laryngoscopy, which revealed a vocal cord nodule. Imaging demonstrated bilateral adrenal enlargement with hypodense lesions in liver, pancreas, spleen, and kidney. Hormonal evaluation showed preserved adrenal function. Histopathological examination of vocal cord tissue and an adrenal biopsy confirmed the diagnosis of disseminated histoplasmosis. The patient was treated with antifungal therapy. Over 18 months of therapy, adrenal function remained normal, renal function stabilized, and urinary histoplasma antigen became undetectable. Glycemic control improved on oral hypoglycemic agents, vocal recovery occurred with therapy, and the patient achieved long-term clinical stability.</p><p><strong>Learning points: </strong>Disseminated histoplasmosis can present with hoarseness, fever, weight loss and multi-organ involvement. Adrenal enlargement is common but may not always cause insufficiency. Histopathology and fungal stains (PAS, GMS, and LPCB) are diagnostic gold standards. High clinical suspicion is needed in endemic regions or immunocompromised hosts.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052756/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147634685","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 reduced alcohol use in three patients with alcohol-associated liver disease, type 2 diabetes, and obesity. 替西帕肽减少了3例酒精相关性肝病、2型糖尿病和肥胖症患者的酒精使用。
IF 0.7
Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2026-04-01 DOI: 10.1530/EDM-26-0002
Hiroki Takizawa, Akiko Tsuda, Hidehisa Suriki, Hideki Amagane
{"title":"Tirzepatide reduced alcohol use in three patients with alcohol-associated liver disease, type 2 diabetes, and obesity.","authors":"Hiroki Takizawa, Akiko Tsuda, Hidehisa Suriki, Hideki Amagane","doi":"10.1530/EDM-26-0002","DOIUrl":"10.1530/EDM-26-0002","url":null,"abstract":"<p><strong>Summary: </strong>We report three obese patients with type 2 diabetes and alcohol-associated liver disease (ALD), including one patient with alcohol use disorder, who exhibited reduced alcohol intake after the initiation of tirzepatide. Although tirzepatide has shown beneficial effects on liver fibrosis in metabolic dysfunction-associated steatohepatitis, its effect on ALD or alcohol intake has not been reported. After the initiation of tirzepatide, all patients demonstrated decreased alcohol consumption, improved liver function, and better metabolic control. These findings suggest that tirzepatide can provide additional benefits for ALD by reducing alcohol intake while improving metabolic risk factors, potentially offering a novel therapeutic option for this high-risk population.</p><p><strong>Learning points: </strong>The interaction between alcohol consumption and metabolic risk factors in liver disease is bidirectional, necessitating concurrent improvement of both aspects. Treatment with tirzepatide for type 2 diabetes was associated with reduced alcohol consumption in our cases. Tirzepatide might represent an optimal therapeutic option for patients with alcohol-associated liver disease and type 2 diabetes given its potential to reduce alcohol consumption and ameliorate metabolic risk factors.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":"2026 2","pages":""},"PeriodicalIF":0.7,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13052794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147594688","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书