JCEM case reports最新文献_第9页

Inferior Laryngeal Nerve Paraganglioma With Norepinephrine Hypersecretion Diagnosed Shortly After Pregnancy. 妊娠后不久诊断出伴有去甲肾上腺素分泌过多的喉下神经副神经节瘤

JCEM case reports Pub Date : 2024-06-28 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae107

David Kishlyansky, Rithvika Ramesh, Olivia Cook, Meera Luthra

引用次数: 0

Value of Vitamin D Metabolite Ratios in 3 Patients as Diagnostic Criteria to Assess Vitamin D Status. 将 3 名患者的维生素 D 代谢物比率作为评估维生素 D 状态的诊断标准的价值。

JCEM case reports Pub Date : 2024-06-28 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae095

Zhinous Shahidzadeh Yazdi, Elizabeth A Streeten, Hilary B Whitlatch, Salma A Bargal, Amber L Beitelshees, Simeon I Taylor

{"title":"Value of Vitamin D Metabolite Ratios in 3 Patients as Diagnostic Criteria to Assess Vitamin D Status.","authors":"Zhinous Shahidzadeh Yazdi, Elizabeth A Streeten, Hilary B Whitlatch, Salma A Bargal, Amber L Beitelshees, Simeon I Taylor","doi":"10.1210/jcemcr/luae095","DOIUrl":"10.1210/jcemcr/luae095","url":null,"abstract":"Although clinical guidelines recommend measuring total plasma 25-hydroxyvitamin D (25[OH]D) to assess vitamin D (VitD) status, this index does not account for 3-fold inter-individual variation in VitD binding protein (VDBP) level. We present 3 individuals with total plasma 25(OH)D levels of 10.8 to 12.3 ng/mL (27-30.7 nmol/L). Because Endocrine Society guidelines define VitD deficiency as 25(OH)D ≤ 20 ng/mL (50 nmol/L), all 3 would be judged to be VitD deficient. VitD3 supplementation increased 25(OH)D to the range of 31.7 to 33.8 ng/mL (79.1-84.4 nmol/L). Patient #1 exhibited secondary hyperparathyroidism; VitD3 supplementation decreased parathyroid hormone (PTH) by 34% without a clinically significant change in PTH levels in the other 2 individuals. Thus, 25(OH)D level did not distinguish between the 1 patient who had secondary hyperparathyroidism and the 2 who did not. We therefore inquired whether VitD metabolite ratios (which are VDBP-independent) might distinguish among these 3 individuals. Of all the assessed ratios, the 1,25(OH)2D/24,25(OH)2D ratio was the most informative, which had a value of 102 pg/ng in the individual with secondary hyperparathyroidism but lower values (41 and 20 pg/ng) in the other 2 individuals. These cases illustrate the value of the 1,25(OH)2D/24,25(OH)2D ratio to provide clinically relevant information about VitD status.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae095"},"PeriodicalIF":0.0,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11211852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141473268","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

JCEM case reports Pub Date : 2024-06-27 eCollection Date: 2024-07-01 DOI: 10.1210/jcemcr/luae108

Harsh Kahlon, Joshua R Stanley, Cillian Lineen, Carol Lam

{"title":"Diazoxide-related Hyperglycemic Hyperosmolar State in a Child With Kabuki Syndrome.","authors":"Harsh Kahlon, Joshua R Stanley, Cillian Lineen, Carol Lam","doi":"10.1210/jcemcr/luae108","DOIUrl":"10.1210/jcemcr/luae108","url":null,"abstract":"Diazoxide is a commonly used first-line medication for the treatment of hyperinsulinism. Hyperglycemia may occur with diazoxide use. However, hyperglycemic hyperosmolar state (HHS) secondary to diazoxide is an exceedingly rare but potentially life-threatening adverse effect. We present a case of a 2-year-old with Kabuki syndrome and hyperinsulinism on diazoxide. She presented with 4 days of fever, respiratory symptoms, and lethargy. She was influenza B positive. Initial workup indicated HHS, with an elevated serum glucose (47.1 mmol/L [847.8 mg/dL]; reference range 3.9-6.0 mmol/L; 70-108 mg/dL), serum osmolality (357 mmol/kg H2O; reference 282-300 mmol/kg H2O) but absent urine ketones and no metabolic acidosis (venous pH 7.34). Her course was complicated by an acute kidney injury. Management in the hospital included discontinuation of diazoxide and intravenous fluid resuscitation, following which hyperglycemia and hyperosmolarity resolved. No insulin therapy was required. She remained normoglycemic without diazoxide for 2 weeks but subsequently required restarting of diazoxide for hypoglycemia. This case highlights the need for early recognition and prompt management of diazoxide-related HHS to reduce negative outcomes. We present the first case report of a child with Kabuki syndrome and hyperinsulinism with diazoxide-induced HHS.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 7","pages":"luae108"},"PeriodicalIF":0.0,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11210298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141473266","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 Pregnancy in Isolated 17,20-lyase Deficiency Without Glucocorticoid Use or Assisted Reproduction Techniques. 孤立的 17,20-lyase 缺乏症患者在不使用糖皮质激素或辅助生殖技术的情况下成功怀孕。

JCEM case reports Pub Date : 2024-06-26 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae100

Julia Martins de Oliveira, Celso Monteiro Genari, Paulo Marcelo Sobral, Claudio Elias Kater, Flavia Amanda Costa-Barbosa

{"title":"Successful Pregnancy in Isolated 17,20-lyase Deficiency Without Glucocorticoid Use or Assisted Reproduction Techniques.","authors":"Julia Martins de Oliveira, Celso Monteiro Genari, Paulo Marcelo Sobral, Claudio Elias Kater, Flavia Amanda Costa-Barbosa","doi":"10.1210/jcemcr/luae100","DOIUrl":"10.1210/jcemcr/luae100","url":null,"abstract":"Isolated 17,20-lyase deficiency (ILD) is a partial form of 17α-hydroxylase/17,20-lyase deficiency that typically presents with infertility and lack of pubertal development. Successful live births have been achieved using assisted reproductive techniques. We present a case of spontaneous pregnancy in an 18-year-old female with ILD without reproduction treatments or glucocorticoid use. She presented to our clinic with absence of pubarche and oligomenorrhea and had typical external genitalia and complete breast development. Follicular phase progesterone and estradiol were within reference values, and androgen levels were undetectable. Corticosterone was increased, and cortisol responded partially to the ACTH-stimulation test. This profile raised a suspicion for ILD, which was confirmed by the finding of the homozygous p.R347H variant in the CYP17A1 gene. Sex steroid replacement and glucocorticoid use during stress were prescribed. She returned 2 years later 20 weeks pregnant. Her gestation was uneventful, and a full-term healthy male was born. This phenomenon could be partially explained by sufficient estrogen synthesis via residual 17,20-lyase enzymatic activity. Intermittent estradiol use may have favored uterine development and fine-tuned the pituitary-gonadal axis rhythm. Normal progesterone levels may have permitted an adequate endometrial \"implantation window\" without glucocorticoid use. Finally, elevated corticosterone may have compensated for the partial cortisol deficiency.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae100"},"PeriodicalIF":0.0,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11203905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141461169","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

Looking Beyond the Usual Suspects: A Rare Case of Teriparatide-Induced Gynecomastia. 超越常规疑点：特立帕肽诱发妇科肿瘤的罕见病例。

JCEM case reports Pub Date : 2024-06-26 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae098

Bhanvi Ramchandani, Faryal Sardar Mirza

引用次数: 0

Chiari I Malformation With Concomitant Nonfunctioning Pituitary and Adrenal Tumors. Chiari I畸形并发无功能垂体和肾上腺肿瘤。

JCEM case reports Pub Date : 2024-06-25 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae113

Rachel Zielinski, Aysha Khan, Faryal Sardar Mirza

{"title":"Chiari I Malformation With Concomitant Nonfunctioning Pituitary and Adrenal Tumors.","authors":"Rachel Zielinski, Aysha Khan, Faryal Sardar Mirza","doi":"10.1210/jcemcr/luae113","DOIUrl":"10.1210/jcemcr/luae113","url":null,"abstract":"Chiari 1 malformation (CM1) is a rare finding that has been described with growth hormone (GH)-secreting pituitary adenomas and with an endothelial PAS domain protein 1 gain-of-function mutation syndrome. We describe the first reported case of a patient diagnosed with CM1 and nonfunctioning pituitary and adrenal incidentalomas. Our case describes a 45-year-old female who was found to have cerebellar tonsillar ectopia consistent with CM1, a pituitary tumor, and bilateral adrenal incidentalomas. She was diagnosed after presenting with 2 weeks of upper extremity weakness and paresthesia. A comprehensive endocrine workup including insulin like growth factor (IGF-1) was normal. She underwent posterior fossa decompression without complication. Pituitary adenectomy was not pursued as there was no evidence of compression of the chiasm or the surrounding structures. In previous case reports it has been proposed that GH-secreting adenomas contribute to CM1 by causing hypertrophy of soft tissue structures in the skull base, overcrowding the posterior fossa. Given that our patient had normal IGF-1 levels, there could be a different underlying mechanism that contributed to the concomitant occurrence of CM1 with the pituitary and adrenal tumors.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae113"},"PeriodicalIF":0.0,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11196993/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141452337","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 Cyclic Cushing Syndrome Mystery Illustrates Diagnostic Principles. 一个罕见的周期性库欣综合征之谜说明了诊断原理。

JCEM case reports Pub Date : 2024-06-24 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae094

Yetunde Bernice Omotosho, Raven McGlotten, Karel Pacak, Margaret E Wierman, Lynnette K Nieman

{"title":"A Rare Cyclic Cushing Syndrome Mystery Illustrates Diagnostic Principles.","authors":"Yetunde Bernice Omotosho, Raven McGlotten, Karel Pacak, Margaret E Wierman, Lynnette K Nieman","doi":"10.1210/jcemcr/luae094","DOIUrl":"10.1210/jcemcr/luae094","url":null,"abstract":"Pheochromocytomas predominantly produce catecholamines, and rarely also produce ACTH, causing Cushing syndrome (CS). Cyclic CS, an uncommon presentation of hypercortisolism, poses a diagnostic challenge. We report a 71-year-old woman who developed cyclic ectopic ACTH secretion from a pheochromocytoma. Previous evaluations showed intermittent elevations in cortisol and ACTH levels, normal pituitary magnetic resonance imaging, and an adrenal nodule. On admission, she was hypertensive and had cushingoid features. Bilateral inferior petrosal sinus sampling with desmopressin stimulation and an 8-mg dexamethasone suppression test suggested ectopic ACTH secretion, but ACTH increased during the peripheral desmopressin stimulation test. Plasma normetanephrines were about 2-fold above the upper reference limit. 18F-fluoro-dopa and 68Gallium-DOTATATE positron emission tomography/computed tomography scans, computed tomography, and magnetic resonance imaging identified an adrenal mass. After doxazosin adrenoceptor blockade, she underwent right adrenalectomy; histopathology and immunohistochemistry confirmed an ACTH-secreting pheochromocytoma. Postoperative blood pressure normalized and serum cortisol and plasma ACTH levels were suppressed, requiring physiologic hydrocortisone replacement. This case underscores the importance of considering pheochromocytoma in ACTH-dependent hypercortisolism with elevated metanephrines and an adrenal mass. Timely diagnosis and treatment can reduce morbidity and improve quality of life.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae094"},"PeriodicalIF":0.0,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11194838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141447711","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

An Unusual Case of Pheochromocytoma Associated with von Hippel-Lindau Disease and Lynch Syndrome During Pregnancy. 妊娠期嗜铬细胞瘤伴有冯-希佩尔-林道病和林奇综合征的罕见病例。

JCEM case reports Pub Date : 2024-06-21 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae097

Michael Tang, Shumei Meng

{"title":"An Unusual Case of Pheochromocytoma Associated with von Hippel-Lindau Disease and Lynch Syndrome During Pregnancy.","authors":"Michael Tang, Shumei Meng","doi":"10.1210/jcemcr/luae097","DOIUrl":"10.1210/jcemcr/luae097","url":null,"abstract":"Pheochromocytomas (PCCs) and/or paragangliomas (PGLs) are a challenge to diagnose during pregnancy because of elusive signs and testing difficulties. We report a 25-year-old woman with no pertinent medical history who presented to the hospital with hypertension, vision loss, and weakness and was initially diagnosed with preeclampsia. Imaging showed hemangioblastomas in the medulla and thoracic spine, pancreatic cysts, and a renal cyst. The endocrinology service was consulted for possible PCCs associated with von Hippel-Lindau disease (VHL). Serum and urine normetanephrine levels were elevated despite the lack of overt PCCs/PGLs seen on magnetic resonance imaging and magnetic resonance angiography. The patient was medically managed with doxazosin and then labetalol. Despite successful resection of the hemangioblastoma in the medulla, the patient suffered respiratory distress requiring tracheostomy and venous-venous extracorporeal membrane oxygenation (V-V ECMO) and fetal demise. After 3 months, the patient was discharged to rehabilitation. Follow-up genetics were heterozygous for VHL and Lynch syndrome. DOTATATE positron emission tomography/computed tomography scan showed a small hepatic focus of a maximum standard uptake value of 12.1. Altogether, this case illustrates the importance of prompt diagnosis and proper management of PCCs/PGLs during pregnancy and incorporating genetic information during surveillance to lower morbidity and mortality.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae097"},"PeriodicalIF":0.0,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11191648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141443870","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

Severe Hypertriglyceridemia in a Patient With Metabolic Syndrome and Psoriasis on Risankizumab-Rzaa. 一名患有代谢综合征和银屑病的患者在服用利坦珠单抗-Rzaa 后出现严重的高甘油三酯血症。

JCEM case reports Pub Date : 2024-06-21 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae087

Isra Abdulwadood, Jose F De Melo, Robert C Scheel, John P Bois

{"title":"Severe Hypertriglyceridemia in a Patient With Metabolic Syndrome and Psoriasis on Risankizumab-Rzaa.","authors":"Isra Abdulwadood, Jose F De Melo, Robert C Scheel, John P Bois","doi":"10.1210/jcemcr/luae087","DOIUrl":"10.1210/jcemcr/luae087","url":null,"abstract":"We report a case of severe hypertriglyceridemia (HTG) complicated by hyperviscosity syndrome as a possible adverse reaction to risankizumab-rzaa in a 49-year-old male with a history of longstanding uncontrolled type 2 diabetes, obesity, and coronary artery disease with prior ST-elevation myocardial infarction. On admission, the patient presented with xanthomatous plaques, chest and epigastric discomfort, and headache. Subsequent blood testing revealed severely elevated triglyceride (TG) levels at 7670 mg/dL (86.59 mmol/L) [reference range: <150 mg/dL; 1.69 mmol/L] and total cholesterol at 934 mg/dL (24.14 mmol/L) [reference range: <200 mg/dL; 5.17 mmol/L]. Triglyceride levels decreased and symptoms resolved with dietary restrictions and plasmapheresis. At follow-up, his TG remained elevated but improved, and he was advised to continue lipid-lowering medications as well as cessation of risankizumab. While the patient presented with high risk factors, we posit that the subacute presentation of severe HTG is a possible result of his recent course of risankizumab-rzaa therapy for management of psoriasis. This is noteworthy as pharmaceutical surveys and clinical trials do not list severe HTG as an adverse effect. Postmarketing surveillance studies are essential to confirm this potential association and monitor drug safety. In summary, this case highlights a possible link between risankizumab and severe HTG, emphasizing the importance of ongoing pharmacovigilance to identify and manage unexpected adverse effects associated with new medications.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae087"},"PeriodicalIF":0.0,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11191645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141443872","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 Type Hypersensitivity Reaction Induced By Liraglutide With Tolerance to Semaglutide. 利拉鲁肽诱发的延迟型超敏反应对塞马鲁肽产生耐受。

JCEM case reports Pub Date : 2024-06-21 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae105

Ricardo Moreno-Borque, Guillermo Guhl-Millán, Sara Mera-Carreiro, Mario Pazos-Guerra, Jose Antonio Cortés-Toro, Eduardo López-Bran

{"title":"Delayed Type Hypersensitivity Reaction Induced By Liraglutide With Tolerance to Semaglutide.","authors":"Ricardo Moreno-Borque, Guillermo Guhl-Millán, Sara Mera-Carreiro, Mario Pazos-Guerra, Jose Antonio Cortés-Toro, Eduardo López-Bran","doi":"10.1210/jcemcr/luae105","DOIUrl":"10.1210/jcemcr/luae105","url":null,"abstract":"Liraglutide is a glucagon-like peptide-1 (GLP-1) receptor agonist used for the management of type 2 diabetes and obesity. It was the first GLP-1 receptor agonist to be approved by the US Food and Drug Administration and the European Medicines Agency for the treatment of obesity. To date, numerous skin adverse reactions to liraglutide have been reported, but data regarding hypersensitivity reactions are scarce, raising concerns about its safety and clinical management. We present the case of a 56-year-old female patient with class 3 obesity who was started on subcutaneous liraglutide (Saxenda) by her endocrinologist. One month after starting the aforementioned treatment, the patient presented well-defined, round, erythematous pruriginous plaques surrounding the injection site, around 24 hours after the drug administration. A liraglutide-induced, delayed-type hypersensitivity reaction was suspected, which could be subsequently confirmed by allergy testing and histopathological study. This paper explores the clinical use of liraglutide, the occurrence of hypersensitivity reactions, diagnosis, management, and implications for future research. Understanding and managing liraglutide hypersensitivity is crucial to ensuring the safety and efficacy of this medication.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae105"},"PeriodicalIF":0.0,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11191647/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141443871","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