JCEM case reports最新文献_第8页

Reversible Gynecomastia and Hypogonadism Due to Usage of Commercial Performance-Enhancing Supplement Use. 使用商业性能增强补充剂导致的可逆性妇科肿瘤和性腺功能减退症。

JCEM case reports Pub Date : 2024-08-14 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae148

Serena Chong, Catherine A Woolnough, Sundar R Koyyalamudi, Nimalie J Perera

{"title":"Reversible Gynecomastia and Hypogonadism Due to Usage of Commercial Performance-Enhancing Supplement Use.","authors":"Serena Chong, Catherine A Woolnough, Sundar R Koyyalamudi, Nimalie J Perera","doi":"10.1210/jcemcr/luae148","DOIUrl":"10.1210/jcemcr/luae148","url":null,"abstract":"Commercially available performance-enhancing supplements can contain banned performance-enhancing drugs (PEDs) and undisclosed steroid hormones that can induce hormonal abnormalities with associated clinical signs. We present a case of a 40-year-old male who developed bilateral gynecomastia and biochemical hypogonadotropic hypogonadism with a corresponding 6-month history of consuming commercially available performance-enhancing supplements for gym workouts. These performance-enhancing supplements were found to contain amounts of RAD-140, a selective androgen receptor modulator, MK-677, a GH secretagogue and cardarine, all of which are banned PEDs. In vitro analysis also detected undisclosed hormones testosterone, estradiol, and GH in all 3 supplements, with further steroid analysis using liquid chromatography mass spectrometry identifying an unidentified compound coeluting close to the testosterone peak. Cessation of these supplements led to full resolution of symptoms including normalization of hypogonadotropic hypogonadism. This case highlights the need for clinicians to consider commercially available performance-enhancing supplements as potential sources of PEDs and exogenous steroid hormones that can have adverse clinical consequences.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae148"},"PeriodicalIF":0.0,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11321837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141984085","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

Thyroid Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia: Insights on Successful Noninvasive Imaging. 遗传性出血性远端血管扩张症中的甲状腺动静脉畸形：无创成像的成功启示。

JCEM case reports Pub Date : 2024-08-12 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae138

Hisanori Goto, Iyo Tanimura, Yujiro Nakano, Yumie Takeshita, Toshinari Takamura

引用次数: 0

Ultrasound-Guided Microwave Ablation of Thyroid Schwannoma. 超声引导下的甲状腺许旺瘤微波消融术

JCEM case reports Pub Date : 2024-08-12 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae146

Xue Han, Yuzhi Zhang, Yu Li, Ruiping Li, Chao Liu, Shuhang Xu

引用次数: 0

Rapid Resolution of Recalcitrant Headache With Pasireotide in an Adult Patient With Acromegaly. 帕西瑞奥肽能迅速缓解肢端肥大症成人患者的顽固性头痛

JCEM case reports Pub Date : 2024-08-09 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae142

Zeinab Dabbous, Zaina Rohani, Abeer Kaled Abdalrubb, Yaman Alkailani, Rosario Pivonello, Tarik Elhadd

引用次数: 0

Neonatal Severe Hyperparathyroidism Causing Life-Threatening Hypercalcemia Treated With Medical and Surgical Management. 新生儿严重甲状旁腺功能亢进症导致危及生命的高钙血症，采用内科和外科手术治疗。

JCEM case reports Pub Date : 2024-08-09 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae133

Kerri Rosettenstein, Andrew Parasyn, Kristen Neville, Shihab Hameed

{"title":"Neonatal Severe Hyperparathyroidism Causing Life-Threatening Hypercalcemia Treated With Medical and Surgical Management.","authors":"Kerri Rosettenstein, Andrew Parasyn, Kristen Neville, Shihab Hameed","doi":"10.1210/jcemcr/luae133","DOIUrl":"10.1210/jcemcr/luae133","url":null,"abstract":"A 3-day-old male presented to a peripheral remote hospital in New South Wales, Australia, with tachypnea. He was found to have hypercalcemia, with ionized calcium >2.5 mmol/L (>10 mg/dL) (0.97-1.5 mmol/L or 1.14-1.3 mg/dL) and serum calcium of 3.85 mmol/L (15.43 mg/dL) (2.2-2.8 mmol/L or 8.5-10.5 mg/dL). Peak serum calcium was 5.4 mmol/L (21.64 mg/dL). He was transferred to a tertiary pediatric intensive care unit. Medical management (including hyperhydration, diuretics, corticosteroids, bisphosphonates, cinacalcet, and calcitonin) failed to maintain normocalcemia; therefore, total parathyroidectomy was performed on day 16 of life. Hungry bones syndrome developed postoperatively, requiring high doses of calcium, calcitriol, and phosphate supplementation. Genetic testing identified compound heterozygosity for 2 likely pathogenic variants in the calcium-sensing receptor gene. He is now 3 years old and is growing and developing without any concerns. This case highlights the importance of aggressive initial management in addressing severe hypercalcemia through perioperative management principles as well as the prolonged nature of hungry bones syndrome.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae133"},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11311693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141918252","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

Ectopic Cushing Syndrome Secondary to Diffuse Idiopathic Neuroendocrine Cell Hyperplasia-A Report of 2 Cases. 继发于弥漫性特发性神经内分泌细胞增生症的异位库欣综合征--2 个病例的报告。

JCEM case reports Pub Date : 2024-08-06 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae128

Raul Lopez Fanas, Travis Goettemoeller, Keerthi Cedeno, Anjali D Manavalan

{"title":"Ectopic Cushing Syndrome Secondary to Diffuse Idiopathic Neuroendocrine Cell Hyperplasia-A Report of 2 Cases.","authors":"Raul Lopez Fanas, Travis Goettemoeller, Keerthi Cedeno, Anjali D Manavalan","doi":"10.1210/jcemcr/luae128","DOIUrl":"10.1210/jcemcr/luae128","url":null,"abstract":"Ectopic ACTH secretion (EAS) accounts for 10% to 20% of all Cushing syndrome cases. Diffuse intrapulmonary neuroendocrine cell hyperplasia (DIPNECH), a poorly understood lung disease, is characterized by abnormal proliferation of neuroendocrine cells in the bronchial mucosa. It is thought to be a precursor of pulmonary carcinoid and has been associated with EAS in a handful of cases. We present 2 patients with clinical, radiological, and pathological features of DIPNECH who presented with florid Cushing syndrome secondary to EAS evidenced by rapid onset of symptoms, elevated plasma ACTH, and cortisol levels, and failed high-dose dexamethasone suppression testing. Treatment of hypercortisolism included excision of the involved lung and medical therapy with steroidogenesis inhibitors. Despite the aggressive initial management, hypercortisolism persisted. This case series highlights the importance of considering DIPNECH as a cause for Cushing syndrome in the appropriate clinical scenario and underscores the likelihood that surgery may not be curative because of the diffuse nature of this disease. Given the high mortality associated with EAS, prompt medical therapy, appropriate prophylaxis, and bilateral adrenalectomy can be lifesaving measures when initial surgery fails.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae128"},"PeriodicalIF":0.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11301312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141899104","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

Loss of ATRX Protein Expression in an Aggressive Null Cell Pituitary Tumor. 侵袭性零细胞垂体瘤中 ATRX 蛋白表达的缺失

JCEM case reports Pub Date : 2024-08-06 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae143

Elisa Lamback, Renan Lyra Miranda, Nina Ventura, Leila Chimelli, Mônica R Gadelha

引用次数: 0

Abdominal Obesity-Metabolic Syndrome 3 Misclassified as Type 1 Diabetes Mellitus. 腹部肥胖-代谢综合征 3 被误诊为 1 型糖尿病。

JCEM case reports Pub Date : 2024-08-06 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae120

Suhaib Radi, Lujain Bashamakh, Hayfa Mandourah, Sarah Alsharif

引用次数: 0

Neurosarcoidosis With Panhypopituitarism: Two Cases and Literature Review. 伴有垂体功能减退症的神经肉芽肿病：两例病例和文献综述

JCEM case reports Pub Date : 2024-08-06 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae141

Ewelina Niedzialkowska, Tatjana Blazin, Daniel Shelden, Eric D Buras

{"title":"Neurosarcoidosis With Panhypopituitarism: Two Cases and Literature Review.","authors":"Ewelina Niedzialkowska, Tatjana Blazin, Daniel Shelden, Eric D Buras","doi":"10.1210/jcemcr/luae141","DOIUrl":"10.1210/jcemcr/luae141","url":null,"abstract":"Neurosarcoidosis (NS) with hypothalamic-pituitary (HP) involvement (HP-NS) is a rare clinical condition, conferring variable hormonal deficits that are typically irreversible. Here, we present 2 cases of NS with panhypopituitarism. The first patient presented with cauda equina syndrome and arginine vasopressin deficiency, while the second developed recurrent optic neuritis and vision loss in the setting of a sellar mass. In the first case, neurological symptoms resolved after therapy with high-dose glucocorticoids, infliximab, and methotrexate; while in the second, visual restoration followed resection of the granulomatous tissue and immunosuppressive therapy. In both cases, pituitary dysfunction persisted despite neurological improvement. We contextualized the presentations and outcomes through a literature review of HP-NS case reports and case series. This revealed high rates of extraneurologic sarcoidosis in HP-NS patients with panhypopituitarism, while underscoring the need for hormonal replacement-as endocrinopathies rarely respond to sarcoidosis-directed immunosuppression.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae141"},"PeriodicalIF":0.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11301318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141899106","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 Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases. 一个患有吞咽功能亢进和肥胖症的家族中的新型母系遗传 GNAS 变体：3例

JCEM case reports Pub Date : 2024-08-05 eCollection Date: 2024-08-01 DOI: 10.1210/jcemcr/luae125

Anand Ramakrishnan, Dillon Popat, Preetha Purushothaman, Li F Chan, Evelien F Gevers

{"title":"A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases.","authors":"Anand Ramakrishnan, Dillon Popat, Preetha Purushothaman, Li F Chan, Evelien F Gevers","doi":"10.1210/jcemcr/luae125","DOIUrl":"10.1210/jcemcr/luae125","url":null,"abstract":"GNAS variants were recently described in 1% of patients not known to have pseudohypoparathyroidism/inactivating PTH/PTHrP signalling disorder 2 in the UK Genetics of Obesity Study. We describe a new missense GNAS variant, c.791A > C, p.(Asp264Thr), in a family with obesity, hyperphagia and mild PTH resistance. A 6-year-old female (body mass index +4.3 SD score [SDS], height +1.9 SDS) presented with hyperphagia and obesity from age 3 years. She had subtle brachydactyly, macrocephaly, and mildly delayed development. The 12-year-old brother (height +2.1 SDS, body mass index +2.9 SDS) had hyperphagia, obesity, mildly delayed development, and autism. He had subtle brachydactyly, as did the affected mother. We assessed the functional effect of the mutant, measuring cAMP production in cells transfected with wild type and mutant GNAS after ligand stimulation. Cells with the mutant GNAS showed impaired cAMP generation through melanocortin receptor 4, GH releasing hormone receptor, and PTH receptor. These cases demonstrate the clinical heterogeneity of monogenic disease, suggesting a need to test for PHP1A in children with obesity even without classical signs of PHP1A.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 8","pages":"luae125"},"PeriodicalIF":0.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11298691/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894948","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