JCEM case reports最新文献_第7页

Impaired 11β-HSD1 Activity in a Male Patient With Cushing Disease Resulting in Lack of the Full Cushingoid Phenotype. 一名男性库欣病患者的 11β-HSD1 活性受损，导致缺乏完整的库欣样表型。

JCEM case reports Pub Date : 2024-09-05 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae158

Robert J Weber, Christopher Kawaja, Robert Wallerstein, Sandeep M Kunwar, Chienying Liu

引用次数: 0

When the Expected Becomes Unexpected: An Acute Presentation of Hypothyroidism. 当意料之中变成意料之外：甲状腺功能减退症的急性表现。

JCEM case reports Pub Date : 2024-09-05 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae154

Andrea Martinez Sanchez, Claudia Vega Castellvi, Joshua Tarkoff, Christie De La Vega

引用次数: 0

Euglycemic Ketoacidosis From Semaglutide in a Patient Without Diabetes. 一名无糖尿病患者因塞马鲁肽引发的酮症酸中毒

JCEM case reports Pub Date : 2024-08-30 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae156

Nikhil Sood, Ojas Bansal, Rohini Garg, Abhinav Hoskote

引用次数: 0

Two Cases of Improved Bone Mineral Density Following Treatment of Hypophosphatemic Osteomalacia Due to FGF23 Excess. 两例因 FGF23 过量而导致的低磷血症骨软化症患者在接受治疗后骨密度得到改善

JCEM case reports Pub Date : 2024-08-27 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae073

Lara McHan, Marilyn Augustine

{"title":"Two Cases of Improved Bone Mineral Density Following Treatment of Hypophosphatemic Osteomalacia Due to FGF23 Excess.","authors":"Lara McHan, Marilyn Augustine","doi":"10.1210/jcemcr/luae073","DOIUrl":"https://doi.org/10.1210/jcemcr/luae073","url":null,"abstract":"Excess fibroblast growth factor-23 (FGF23) causes renal phosphorous wasting and impaired activation of vitamin D leading to osteomalacia. Tumor-induced osteomalacia (TIO) is a rare cause of FGF23-mediated hypophosphatemia. We present 2 patients with FGF23-mediated hypophosphatemia who had low bone mineral density (BMD) at diagnosis and remarkable improvements in BMD with treatment. Patient 1 is a 43-year-old man who had years of progressive pain, difficulty ambulating, and multiple fractures. Patient 2 is a 48-year-old nonverbal man with autism and intellectual disability who had months of progressively declining mobility, presumed pain, and multiple fractures. Workup in both cases revealed hypophosphatemia, evidence of renal phosphorous wasting, and elevated FGF23. Patient 1 was diagnosed with TIO when imaging identified a subcutaneous left flank mass and excision resulted in rapid symptom improvement; he experienced a 96% increase in lumbar spine (LS) BMD after surgery. Patient 2 has had multiple scans over several years, but no FGF23-secreting tumor has been identified. He has been maintained on medical treatment with phosphorous and calcitriol with improvement in functioning and 48% increase in LS BMD. Both patients had improvements in BMD with treatment, with more pronounced improvement in the patient with TIO managed surgically.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae073"},"PeriodicalIF":0.0,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11408272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302655","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

Growth Hormone Deficiency in an Adolescent With Pseudohypoparathyroidism Type 1B. 假性甲状旁腺功能减退症1B型青少年生长激素缺乏症

JCEM case reports Pub Date : 2024-08-27 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae152

Sabitha Sasidharan Pillai, Monica Reyes, Harald Jüppner, Lisa Swartz Topor

{"title":"Growth Hormone Deficiency in an Adolescent With Pseudohypoparathyroidism Type 1B.","authors":"Sabitha Sasidharan Pillai, Monica Reyes, Harald Jüppner, Lisa Swartz Topor","doi":"10.1210/jcemcr/luae152","DOIUrl":"10.1210/jcemcr/luae152","url":null,"abstract":"We report growth hormone (GH) deficiency due to presumed GH releasing hormone (GHRH) resistance in an adolescent with pseudohypoparathyroidism type 1B (PHP1B) due to paternal uniparental disomy of chromosome 20 (patUPD20). A male patient aged 11 years 10 months with obesity and mild developmental delay was found to have hypocalcemia, hyperphosphatemia, and an elevated parathyroid hormone level. History included muscle cramps and leg pain with activity. Examination showed round facies, short stature, and obesity. He was in puberty and bone age was advanced by > 2 years. Detailed genetic workup, including nucleotide sequence analysis of GNAS exons 1-13 and STX16, methylation-sensitive multiplex ligation-dependent probe amplification and analysis of several microsatellite markers for chromosome 20, established the diagnosis of PHP1B due to patUPD20. Muscle cramps and hypocalcemia resolved with calcium carbonate, ergocalciferol, and calcitriol treatment. He was short with linear growth deceleration at around age 13 years. Peak GH concentration was insufficient following stimulation testing. Growth velocity improved with human GH treatment. Although rare, resistance to GHRH can occur in PHP1B and patients with this disorder should be evaluated for GH insufficiency if they present with short stature and reduced growth velocity. Treatment with recombinant human GH may improve growth velocity in such patients.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae152"},"PeriodicalIF":0.0,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11348937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142082790","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

Cardiac Tamponade as a Harbinger of Hypothyroidism. 心脏填塞是甲状腺功能减退症的先兆

JCEM case reports Pub Date : 2024-08-23 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae150

Fateen Ata, Fatima Al-Hattab, Ammara Bint I Bilal, Ezeddin Alataresh, Haval Surchi

{"title":"Cardiac Tamponade as a Harbinger of Hypothyroidism.","authors":"Fateen Ata, Fatima Al-Hattab, Ammara Bint I Bilal, Ezeddin Alataresh, Haval Surchi","doi":"10.1210/jcemcr/luae150","DOIUrl":"10.1210/jcemcr/luae150","url":null,"abstract":"Cardiac tamponade is a rare complication of hypothyroidism. In rarer cases, hypothyroidism may initially present with tamponade. Cardiac tamponade is an emergency condition that usually requires urgent intervention. However, guidelines for tamponade secondary to hypothyroidism are not optimal, and cases have been managed variably (ranging from levothyroxine alone to pericardiocentesis followed by thyroid hormone replacement) with diverse outcomes. Here, we report a case of a 42-year-old male with no medical history who presented with exertional dyspnea, lower leg swelling, facial puffiness, constipation, and weight gain. He had low blood pressure (80/60 mm Hg), normal heart rate with sinus rhythm, normal oxygen saturation, and was afebrile. Apart from a mildly raised creatinine, his test results were normal. An echocardiogram revealed features of tamponade. Further laboratory tests showed severe hypothyroidism. Following the initiation of levothyroxine, he demonstrated significant improvement. Coronary angiography revealed 95% stenosis in the mid-left anterior descending artery, treated with stenting. Serial echocardiograms showed regression of the pericardial effusion, stabilizing his condition without the need for invasive pericardiocentesis. This case highlights the importance of prompt diagnosis and management of hypothyroidism-related tamponade to prevent severe cardiac compromise. Hence, it may be necessary to consider hypothyroidism in the differential for patients with unexplained cardiac tamponade.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae150"},"PeriodicalIF":0.0,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11342959/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142057500","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

Lymphoid Structure Presenting as a Hypermetabolic Adrenal Incidentaloma. 淋巴结构表现为高代谢性肾上腺偶发瘤

JCEM case reports Pub Date : 2024-08-21 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae149

Xavier Gilis, Thomas Servais, Guillaume Pierman, Marie-Cécile Nollevaux, Etienne Delgrange

引用次数: 0

Starvation Ketoacidosis in Pregnancy: An Unusual Presentation and Brief Literature Review. 妊娠期饥饿性酮症酸中毒：妊娠期饥饿性酮症酸中毒：不寻常的表现和简要的文献综述。

JCEM case reports Pub Date : 2024-08-16 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae145

Lisa Abraham, Xinyuan Ning, Hilary B Whitlatch

引用次数: 0

Thyroid Paraganglioma: A Rare Manifestation of Paraganglioma Syndrome Associated With Pathogenic Variant in SDHD. 甲状旁腺瘤：副神经节瘤综合征的一种罕见表现与 SDHD 的致病变异有关。

JCEM case reports Pub Date : 2024-08-16 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae135

Valentina D Tarasova, Kelara Samuel, Caitlin McMullen, Sergiy Kushchayev, Juan C Hernandez Prera, Colleen Veloski

{"title":"Thyroid Paraganglioma: A Rare Manifestation of Paraganglioma Syndrome Associated With Pathogenic Variant in SDHD.","authors":"Valentina D Tarasova, Kelara Samuel, Caitlin McMullen, Sergiy Kushchayev, Juan C Hernandez Prera, Colleen Veloski","doi":"10.1210/jcemcr/luae135","DOIUrl":"10.1210/jcemcr/luae135","url":null,"abstract":"Evaluation of an incidentally discovered indeterminate thyroid nodule (TN) in a previously healthy 59-year female led to diagnosis of thyroid paraganglioma (TPGL) and subsequently hereditary succinate dehydrogenase complex subunit D (SDHD)-related multifocal head and neck paragangliomas (PGLs). An ultrasound-guided fine needle aspiration (FNA) biopsy of the 1.7-cm TN was nondiagnostic and core biopsy was suspicious for papillary thyroid carcinoma. Pathology slides reviewed at tertiary center showed neuroendocrine neoplasm consistent with PGL. Her 24-hour urinary catecholamines and metanephrines were normal. Given the diagnosis of TPGL, genetic testing was recommended, which identified a pathogenic variant in SDHD (c.242C > T(p.P81L). Gallium-68-DOTATATE PET/CT revealed multifocal areas of increased somatostatin receptor expression from the skull base to thoracic inlet. Magnetic resonance imaging of the brain/neck showed multiple PGLs (right jugular, carotid, thyroid, left vagal, left level II, and superior mediastinal), all measured up to 1.7 cm. The right jugular PGL was treated with external beam radiation therapy of 3000 cGy. All PGLs remained stable and asymptomatic at 22-month follow-up imaging. TPGL should be considered in the differential diagnosis of a hypervascular TN in patients with SDHx-related pheochromocytoma-PGL syndromes and when such lesions with indeterminate cytology are encountered in patients with no known history of SDHx-mutation or syndrome.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae135"},"PeriodicalIF":0.0,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11327117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142001499","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

Hypercalcemia in Pregnancy Caused by a Uterine Myoma. 子宫肌瘤导致的妊娠高钙血症

JCEM case reports Pub Date : 2024-08-14 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae126

Stephanie van der Leij, Doenja Hertog

引用次数: 0