JCEM case reports最新文献_第4页

A Novel Pathogenic CDC73 Gene Variant in Hyperparathyroidism-jaw Tumor Syndrome. 甲状旁腺功能亢进-颌肿瘤综合征中一种新的致病CDC73基因变异。

JCEM case reports Pub Date : 2025-01-24 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf016

Yuto Ishida, Rei Hirose, Masahide Nakano, Yuya Tsurutani

{"title":"A Novel Pathogenic CDC73 Gene Variant in Hyperparathyroidism-jaw Tumor Syndrome.","authors":"Yuto Ishida, Rei Hirose, Masahide Nakano, Yuya Tsurutani","doi":"10.1210/jcemcr/luaf016","DOIUrl":"10.1210/jcemcr/luaf016","url":null,"abstract":"Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare hereditary disorder caused by pathogenic CDC73 gene variants. We report the case of a patient with HPT-JT who carried a novel germline pathogenic CDC73 variant. A 27-year-old woman presented with thirst, polyuria, fatigue, constipation, and a history of fibro-osseous mandible lesions and endometrial polyps. Examination revealed hypercalcemia and grossly elevated PTH levels with hypercalciuria accompanied by a right lower parathyroid tumor with concordant imaging, suggesting primary hyperparathyroidism (PHPT). Given that she had early-onset PHPT and a history of fibro-osseous mandible lesions, HPT-JT was suspected. Genetic testing identified a novel frameshift variant in exon 1 of CDC73. En bloc resection was planned based on the suspicion of parathyroid carcinoma. However, because no findings suggestive of carcinoma were observed intraoperatively, thyroidectomy was not performed. Despite the surgery, PHPT persisted postoperatively, and further evaluation revealed the presence of a residual ectopic left upper parathyroid adenoma, necessitating additional surgery. High-impact pathogenic CDC73 variants are linked to a high risk of parathyroid carcinoma and multiglandular disease. In patients with such variants and clinically suspected parathyroid carcinoma, bilateral neck exploration with subtotal parathyroidectomy may be recommended, with en bloc resection added if intraoperative findings suggest carcinoma.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf016"},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11758138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049005","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

Panhypopituitarism in Neurosarcoidosis: Pituitary-Hypothalamic Involvement Successfully Managed With Rituximab. 神经结节病的全垂体功能减退：利妥昔单抗成功治疗垂体-下丘脑受累。

JCEM case reports Pub Date : 2025-01-24 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf014

Regina de Miguel Ibañez, Pattsy Etual Espinosa Cárdenas, Manuel Ramón García Sáenz, Bayron A Sandoval Bonilla

{"title":"Panhypopituitarism in Neurosarcoidosis: Pituitary-Hypothalamic Involvement Successfully Managed With Rituximab.","authors":"Regina de Miguel Ibañez, Pattsy Etual Espinosa Cárdenas, Manuel Ramón García Sáenz, Bayron A Sandoval Bonilla","doi":"10.1210/jcemcr/luaf014","DOIUrl":"10.1210/jcemcr/luaf014","url":null,"abstract":"Neurosarcoidosis (NS) is a rare form of sarcoidosis, with isolated hypothalamic-pituitary involvement being exceptionally uncommon. We report a 20-year-old woman presenting with polyuria, galactorrhea, amenorrhea, and substantial weight loss. Hormonal evaluation revealed hypopituitarism with arginine-vasopressin deficiency and hyperprolactinemia. Magnetic resonance imaging demonstrated pituitary stalk thickening and suprasellar extension, initially suggestive of hypophysitis. High-dose glucocorticoid therapy resulted in partial regression of the pituitary lesion but persistence of suprasellar involvement, prompting a transcranial stereotactic biopsy. Histopathological analysis confirmed isolated NS with noncaseating granulomas. The patient was treated with rituximab after partial response to glucocorticoids, achieving significant clinical and radiological improvement, although hormonal axis recovery was not observed. Hormone replacement therapy remains necessary. The case met the criteria for definitive type b NS, as no extraneural involvement was identified. This case underscores the diagnostic challenges of isolated NS and highlights the importance of considering histopathological confirmation in patients without systemic manifestations to guide treatment. Glucocorticoids are first-line therapy, but rituximab may be effective as a second-line option for refractory cases. Early diagnosis and tailored therapy are essential to improving outcomes in this rare and challenging condition.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf014"},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11758143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049012","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 Poorly Differentiated Thyroid Cancer Successfully Treated With Radiation and Immunotherapy. 放射和免疫治疗成功治疗复发性低分化甲状腺癌。

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. 通过全身静脉取样和68Ga-DOTATOC正电子发射断层扫描定位肿瘤诱导的骨软化症。

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. 双胎妊娠伴葡萄胎和活胎的甲状腺功能亢进：管理困境。

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. 3 / 1：多发性内分泌瘤2B型的影像学表现。

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. 既往存在gada阳性糖尿病并保留胰岛素分泌的患者durvalumab诱导的1型糖尿病

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