JCEM case reports最新文献_第3页

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

Congenital Hypogonadotropic Hypogonadism With Novel Pathogenic Variants in FGFR1 and GNRHR. 先天性促性腺功能低下与FGFR1和GNRHR的新致病变异。

JCEM case reports Pub Date : 2025-01-15 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae254

Shinta Yamamoto, Hanako Nakajima, Hiroshi Okada, Naoko Nakanishi, Masahide Hamaguchi, Michiaki Fukui

引用次数: 0

Ectopic Thyrotropin-Secreting Tumor in the Nasopharynx Causing Central Hyperthyroidism. 鼻咽部异位促甲状腺素分泌肿瘤引起中枢性甲状腺功能亢进。

JCEM case reports Pub Date : 2025-01-15 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae250

Maria Phylactou, Luke Dixon, Catherine Rennie, Thang Han, Jyotsana Gaur, Niamh M Martin

{"title":"Ectopic Thyrotropin-Secreting Tumor in the Nasopharynx Causing Central Hyperthyroidism.","authors":"Maria Phylactou, Luke Dixon, Catherine Rennie, Thang Han, Jyotsana Gaur, Niamh M Martin","doi":"10.1210/jcemcr/luae250","DOIUrl":"10.1210/jcemcr/luae250","url":null,"abstract":"We report a 31-year-old man with diarrhea and tachycardia. Diagnostic workup confirmed raised free thyroid hormones with unsuppressed thyroid stimulating hormone (TSH). Laboratory assay and medication interference were excluded. Consistent with a high glycoprotein hormone α-subunit (α-GSU), the α-GSU:TSH molar ratio was increased. However, anterior pituitary panel testing also confirmed an isolated, raised follicle stimulating hormone (FSH) (17.3 IU/L; reference range, 1.7-8.0). Therefore, interpretation of α-GSU was limited given the co-existent elevated FSH. There was no pituitary lesion on magnetic resonance imaging (MRI) and stimulated TSH was 232% of baseline levels following thyrotropin-releasing hormone (TRH) stimulation, making a diagnosis of TSH-oma less likely. Genetic analysis revealed no pathogenic variants in the thyroid hormone receptor β gene. Due to the persistently elevated FSH, a follow-up pituitary MRI was arranged, which identified a nasopharyngeal mass on the floor of the sphenoid sinus, raising the possibility of ectopic pituitary tissue. The patient underwent endoscopic resection of this lesion, with subsequent normalization of free T4, TSH, and FSH within a few weeks. Histology confirmed a plurihormonal pituitary adenoma with staining for TSH, growth hormone, luteinizing hormone, and FSH. This case highlights the biochemical and radiological challenges of diagnosing ectopic TSH-secreting pituitary tumors.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae250"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11733770/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143017781","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

Postprandial Hypoglycemia in a Patient With Clinical Beckwith-Wiedemann Syndrome. 临床贝克维-维德曼综合征患者的餐后低血糖症。

JCEM case reports Pub Date : 2025-01-10 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae249

Bella London, Lisa Chiu Corker, Lily Deng, Bhavapriya Mani, Alison Murray, Mansa Krishnamurthy

{"title":"Postprandial Hypoglycemia in a Patient With Clinical Beckwith-Wiedemann Syndrome.","authors":"Bella London, Lisa Chiu Corker, Lily Deng, Bhavapriya Mani, Alison Murray, Mansa Krishnamurthy","doi":"10.1210/jcemcr/luae249","DOIUrl":"10.1210/jcemcr/luae249","url":null,"abstract":"A male neonate exhibited hallmark features of Beckwith-Wiedemann syndrome (BWS) including large for gestational age, macroglossia, multiple ear pits, and umbilical hernia. He had neonatal hypoglycemia, requiring a glucose infusion rate of 9.7 mg/kg/min. Over time, he demonstrated persistent hypoglycemia with point-of-care glucose <60 mg/dL (<3.3 mmol/L) (70-140 mg/dL, 3.9-7.8 mmol/L) prompting a critical sample. A diagnostic fast of 13 hours revealed no hypoglycemia <50 mg/dL. However, he was found to have postprandial hypoglycemia after 2 hours to 58 mg/dL (3.2 mmol/L) (70-140 mg/dL, 3.9-7.8 mmol/L) with low β-hydroxybutyrate of <1.8 mg/dL (<0.17 mmol/L) (>3.6 mg/dL, >1.8 mmol/L) and increased insulin 3.9 μIU/mL (27 pmol/L) (2-13 μIU/mL; 14-90 pmol/L). Low-dose diazoxide (6 mg/kg/day) and chlorothiazide (10 mg/kg/day) were initiated. After 48 hours on diazoxide, all episodes of postprandial hypoglycemia resolved. A safety fast on diazoxide sustained blood glucose >70 mg/dL with a rise in serum β-hydroxybutyrate at 13 and 19 hours. Our case highlights the heterogeneity of hypoglycemia in BWS, either fasting or postprandial. This emphasizes the importance of appropriate screening for both forms of hypoglycemia in patients with BWS and that diazoxide is an effective treatment.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae249"},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11720178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973682","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

Insulinoma With Ambiguous Biochemistry, Positive ⁶⁸Ga-DOTA-Exendin-4 PET-CT, and Effective Endoscopic Ablation. 胰岛素瘤，生化不明确，68Ga-DOTA-Exendin-4 PET-CT阳性，内镜下有效消融。

JCEM case reports Pub Date : 2025-01-09 eCollection Date: 2025-01-01 DOI: 10.1210/jcemcr/luae232

Fernando Jia Jing Loo, Melvin Kok Seng Lee, Hian Liang Huang, Charles Kien Fong Vu, Yin Chian Kon

{"title":"Insulinoma With Ambiguous Biochemistry, Positive 68Ga-DOTA-Exendin-4 PET-CT, and Effective Endoscopic Ablation.","authors":"Fernando Jia Jing Loo, Melvin Kok Seng Lee, Hian Liang Huang, Charles Kien Fong Vu, Yin Chian Kon","doi":"10.1210/jcemcr/luae232","DOIUrl":"10.1210/jcemcr/luae232","url":null,"abstract":"A 75-year-old female presented with fasting hypoglycemic episodes. A supervised fast ended at 72 hours fulfilling Whipple triad, with suppressed insulin and C-peptide levels, but discordantly suppressed serum β-hydroxybutyrate levels. After 21 months of recurring symptoms, a repeat fast ended at 48 hours with Whipple triad, suppressed serum β-hydroxybutyrate level, and borderline nonsuppressed C-peptide level, suggesting endogenous hyperinsulinism. Serum insulin levels were discordantly suppressed. Computed tomography (CT) of the abdomen demonstrated an enhancing 1.36 × 0.93-cm nodule in the head of the pancreas. Endoscopic ultrasound (EUS)-guided fine-needle aspirate of the lesion derived cytology consistent with a neuroendocrine tumor, but fine-needle core biopsy returned normal pancreatic tissue. Because the results were equivocal, functional imaging with 68Gallium-DOTA-exendin-4 positron emission tomography CT was performed, which confirmed the diagnosis of a single head-of-pancreas insulinoma. The patient declined surgical resection. Oral diazoxide therapy resulted in significant peripheral edema. Hence, EUS-guided radiofrequency ablation of the lesion was performed, and the patient remains symptom free 10 months postprocedure. This case illustrates that (1) exendin-4-based positron emission tomography may help one confidently diagnose and localize insulinoma when prior biochemical or endoscopic biopsy results are ambiguous; and (2) EUS-guided radiofrequency ablation is an efficacious alternative option to surgical resection in the frail, elderly patient with insulinoma.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 1","pages":"luae232"},"PeriodicalIF":0.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11711475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959914","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