JCEM case reports最新文献_第2页

Recurrent Poorly Differentiated Thyroid Cancer Successfully Treated With Radiation and Immunotherapy.

JCEM case reports Pub Date : 2025-01-24 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf015

Sarah Hamidi, Matthew S Ning, Jack Phan, Mark E Zafereo, Maria K Gule-Monroe, Ramona Dadu

{"title":"Recurrent Poorly Differentiated Thyroid Cancer Successfully Treated With Radiation and Immunotherapy.","authors":"Sarah Hamidi, Matthew S Ning, Jack Phan, Mark E Zafereo, Maria K Gule-Monroe, Ramona Dadu","doi":"10.1210/jcemcr/luaf015","DOIUrl":"10.1210/jcemcr/luaf015","url":null,"abstract":"A 65-year-old patient presented with recurrent, locally advanced poorly differentiated thyroid cancer despite 2 neck surgeries, and with newly diagnosed brain and skull base metastases. He was treated with palliative stereotactic radiosurgery to the brain and skull base lesions. Thereafter, as no targetable genetic alteration was identified and antiangiogenic multikinase inhibitors were deemed at high risk of hemorrhagic complications, off-label systemic therapies were considered. The mechanistic target of rapamycin (mTOR) inhibitor everolimus could not be obtained due to lack of insurance coverage, so the patient was treated with single-agent pembrolizumab. He showed an initial remarkable response, but unfortunately had disease progression in the neck and upper mediastinum after 1 year of therapy. At that time, he was treated with external beam radiotherapy, with concomitant pembrolizumab. He was then found to have an CTSB::ALK fusion, which has previously been described in 2 cases of thyroid cancer. However, as he showed a positive response to radiation with pembrolizumab, he continued single-agent immune checkpoint inhibition and had a persistent marked response almost a year after completing radiation. The patient was then followed at an outside institution and was transitioned to hospice at time of progression per his preference. He died 4 years after his initial diagnosis.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf015"},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11758140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049016","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

Tumor-Induced Osteomalacia Localized by Systemic Venous Sampling and ⁶⁸Ga-DOTATOC Positron Emission Tomography.

JCEM case reports Pub Date : 2025-01-24 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf012

Tomomi Nakao, Ken Takeshima, Shuhei Morita, Ichiro Yamauchi, Sho Koyasu, Taka-Aki Matsuoka

{"title":"Tumor-Induced Osteomalacia Localized by Systemic Venous Sampling and 68Ga-DOTATOC Positron Emission Tomography.","authors":"Tomomi Nakao, Ken Takeshima, Shuhei Morita, Ichiro Yamauchi, Sho Koyasu, Taka-Aki Matsuoka","doi":"10.1210/jcemcr/luaf012","DOIUrl":"10.1210/jcemcr/luaf012","url":null,"abstract":"Tumor-induced osteomalacia is characterized by hypophosphatemia and fragility fractures caused by fibroblast growth factor 23 (FGF23)-producing tumors. We report a case of tumor-induced osteomalacia in which the tumor location could be determined by gallium 68 (68Ga)-DOTATOC positron emission tomography (PET)/computed tomography (CT). A 74-year-old woman had recurrent fractures and bone pain. Blood tests showed hypophosphatemia and elevated serum alkaline phosphatase and FGF23 levels and CT and bone scintigraphy showed multiple bone fractures. Tumor-induced osteomalacia was therefore suspected. Indium 111 (111In)-pentetreotide scintigraphy showed focus of increased activity in the head, and CT and magnetic resonance images showed a mass-like lesion in the posterior ethmoidal sinus. However, in systemic venous sampling, serum FGF23 level was highest in the left common iliac vein. 68Ga-DOTATOC PET/CT clearly demonstrated focal uptake in the left anterior inferior iliac spine consistent with systemic venous sampling. Retrospectively analyzed, focal uptake in the head was considered to be a physiological uptake in the pituitary gland. The tumor was resected and the pathological diagnosis was phosphaturic mesenchymal tumor. A combination of systemic venous sampling and 68Ga-DOTATOC PET/CT was useful in detection of a small FGF23-producing tumor. Precise tumor localization in such cases requires careful interpretation of scintigraphy.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf012"},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11758137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049021","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

Hyperthyroidism in a Twin Pregnancy With a Hydatidiform Mole and a Coexisting Live Fetus: Management Dilemmas.

JCEM case reports Pub Date : 2025-01-24 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf013

Samantha Jacobson, Jonathan-Raphaël Stetco, Richard Brown, Natasha Garfield

引用次数: 0

3 in 1: Manifestations of Multiple Endocrine Neoplasia Type 2B on Imaging.

JCEM case reports Pub Date : 2025-01-24 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf004

Victoria Belcher, Tyler Hinshaw, James Field, Adnan Haider

引用次数: 0

Durvalumab-induced Type 1 Diabetes in a Patient With Pre-existing GADA-positive Diabetes and Preserved Insulin Secretion.

JCEM case reports Pub Date : 2025-01-24 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luae252

Nobuhiro Nakatake, Megumi Matsuda, Hiroki Kontani

{"title":"Durvalumab-induced Type 1 Diabetes in a Patient With Pre-existing GADA-positive Diabetes and Preserved Insulin Secretion.","authors":"Nobuhiro Nakatake, Megumi Matsuda, Hiroki Kontani","doi":"10.1210/jcemcr/luae252","DOIUrl":"10.1210/jcemcr/luae252","url":null,"abstract":"Predicting the onset of type 1 diabetes mellitus (T1D) in patients treated with immune checkpoint inhibitors (ICI) remains challenging. ICI-induced T1D (ICI-T1D) is a rare but serious complication that leads to complete insulin depletion. While diabetes-associated autoantibodies, such as glutamic acid decarboxylase antibodies (GADA), are typically absent in non-ICI-related fulminant T1D, they are relatively common in ICI-T1D. However, it is unclear whether these autoantibodies are detectable before the development of ICI-T1D. We present the case of a 61-year-old man with diabetes who had strongly positive GADA and preserved insulin secretion prior to initiating ICI therapy. Following treatment with durvalumab, he developed ICI-T1D, characterized by complete insulin depletion. Notably, the onset of ICI-T1D was precisely tracked on a daily basis, facilitating the timely initiation of insulin therapy and preventing diabetic ketoacidosis. Although the cost-effectiveness of pretreatment GADA screening and intensive monitoring remains a concern, early detection of diabetes-associated autoantibodies and vigilant glucose monitoring after ICI administration may help predict ICI-T1D and enable early therapeutic intervention.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luae252"},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11758142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049008","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

Successful Treatment of Severe Ectopic ACTH-Dependent Cushing Syndrome Complicated by Hypocalcemia With Osilodrostat. 奥西洛他汀成功治疗严重异位acth依赖性库欣综合征合并低钙血症。

JCEM case reports Pub Date : 2025-01-20 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luae255

Kristen Lee, Carolina Mendes Pessoa, Wenyu Huang

{"title":"Successful Treatment of Severe Ectopic ACTH-Dependent Cushing Syndrome Complicated by Hypocalcemia With Osilodrostat.","authors":"Kristen Lee, Carolina Mendes Pessoa, Wenyu Huang","doi":"10.1210/jcemcr/luae255","DOIUrl":"10.1210/jcemcr/luae255","url":null,"abstract":"Cushing syndrome due to ectopic adrenocorticotropic hormone (ACTH) secretion (EAS) is rare and may progress rapidly, making treatment very challenging. We report a 27-year-old woman with metastatic neuroendocrine tumor (NET) who presented with sudden onset and rapidly progressing fatigue, muscle weakness, and weight gain. Laboratory findings confirmed severe EAS with new onset hypocalcemia, hypokalemia, and hyperglycemia. The patient was hospitalized and initiated on high-dose osilodrostat. Cortisol levels rapidly decreased in response to osilodrostat. During treatment, she developed glucocorticoid withdrawal symptoms for which hydrocortisone treatment was started. Due to her ineligibility for bilateral adrenalectomy, bilateral adrenal arterial embolization was attempted but ultimately converted to right-only embolization due to hypertensive urgency and difficulty in catheterization. With significant improvement of cortisol levels, her hypocalcemia, hyperglycemia, and hypokalemia resolved. Her osilodrostat dose was gradually lowered during follow-up. Glucocorticoid replacement continued as part of the ongoing block-and-replace regimen.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luae255"},"PeriodicalIF":0.0,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11744044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017787","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

New-onset Type 1 Diabetes Mellitus Presenting as Bilateral Cataracts in a 15-year-old Girl. 1例15岁女孩新发1型糖尿病表现为双侧白内障。

JCEM case reports Pub Date : 2025-01-20 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luae247

Naiomi Gunaratne, Rebecca Tanenbaum, Dianne Deplewski, Marni Harris, Sarah Hilkert Rodriguez

{"title":"New-onset Type 1 Diabetes Mellitus Presenting as Bilateral Cataracts in a 15-year-old Girl.","authors":"Naiomi Gunaratne, Rebecca Tanenbaum, Dianne Deplewski, Marni Harris, Sarah Hilkert Rodriguez","doi":"10.1210/jcemcr/luae247","DOIUrl":"10.1210/jcemcr/luae247","url":null,"abstract":"Cataracts secondary to type 1 or type 2 diabetes are not uncommon in adults; however, they are a rare finding in pediatric patients with type 1 diabetes. A 15-year-old girl presented with progressively worsened bilateral vision for 6 months. Her vision rapidly deteriorated over the previous month, prompting further evaluation that found bilateral cataracts with haziness in all layers and swollen lenses. Labs were done due to the findings and were significant for elevated serum glucose and hemoglobin A1c and mild diabetic ketoacidosis. Further testing confirmed type 1 diabetes. She had bilateral cataract surgery and has had a successful return of 20/20 vision in both eyes. The prevalence of early diabetic cataracts in the pediatric population is rare. Pathophysiology includes a defect in the polyol pathway, combined with oxidative stress, leading to increased fluid retention. Treatment involves cataract surgery and improved glycemic control. Current International Society for Pediatric and Adolescent Diabetes guidelines recommend initial evaluation for cataracts and subsequent surveillance concomitant with diabetic retinopathy monitoring biennially with those with good glycemic control. Given the rapid formation and severity of onset of bilateral cataracts for this patient, we propose continual screening for visual symptoms at each visit and emphasize the importance of ophthalmologic referrals.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luae247"},"PeriodicalIF":0.0,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11744040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017785","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

Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel HSD3B2 Variants. 由于3β-羟基类固醇脱氢酶2型缺乏导致生殖器模糊：两种新型HSD3B2变体的临床、遗传和功能特征

JCEM case reports Pub Date : 2025-01-20 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luae245

Jani Liimatta, Kay Sauter, Therina du Toit, André Schaller, Dagmar l'Allemand, Christa E Flück

引用次数: 0

An Interesting Case of Vitamin D-Mediated Severe Hypercalcemia in a Patient With Renal Mass. 肾肿块患者发生维生素d介导的严重高钙血症的有趣病例。

JCEM case reports Pub Date : 2025-01-17 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae233

Aravind L, Arun Viswanath S, Ninoo George G, Ranjit Jeyasekharan, Deepak David, Jerin J Ovett

引用次数: 0

Diagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel GATA3 Variant. 诊断甲状旁腺功能减退、感音神经性耳聋和肾发育不良综合征和一种新的GATA3变异。

JCEM case reports Pub Date : 2025-01-16 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae246

Anisley Valenciaga, Pamela Brock, Benjamin O'Donnell, Steven W Ing

{"title":"Diagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel GATA3 Variant.","authors":"Anisley Valenciaga, Pamela Brock, Benjamin O'Donnell, Steven W Ing","doi":"10.1210/jcemcr/luae246","DOIUrl":"10.1210/jcemcr/luae246","url":null,"abstract":"Hypoparathyroidism (hypoPTH), sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant condition with approximately 200 cases published. HDR syndrome is caused by variants of GATA binding protein 3 gene (GATA3), which encodes a transcription factor, with multiple types of GATA3 variants reported. We present the case of a 76-year-old woman who was diagnosed with hypoPTH when she was aged 40 years and transferred care to our institution. Further history elucidated presence of deafness at age 1 year and chronic kidney disease with a left atrophic kidney diagnosed in her 60 seconds. Genetic testing identified a novel GATA3 missense variant of unknown significance (c.791G > A, p.Cys264Tyr). There was no family history of hypoPTH, deafness, or renal disease, which might indicate incomplete penetrance or de novo mutation. Advanced modeling of protein sequence and biophysical properties predicts abnormal protein function, suggesting possible pathogenicity. In addition, a likely pathogenic variant in the same amino acid was previously described in a patient with HDR, supporting the in silico prediction of pathogenicity in our patient's variant. Syndromic hypoPTH should be considered in patients even if presenting later in life with presumed chronic isolated conditions. Genetic testing can guide further disease screening and family testing when appropriate.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae246"},"PeriodicalIF":0.0,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017780","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