JCEM case reports最新文献_第4页

Segmental Adrenal Venous Sampling in Unilateral Primary Aldosteronism With Apparent Bilateral Aldosterone Suppression. 单侧原发性醛固酮增多症伴有明显双侧醛固酮抑制的分节肾上腺静脉取样。

JCEM case reports Pub Date : 2024-09-16 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae164

Shotaro Miyamoto, Yuichi Yoshida, Shuhei Miyamoto, Haruto Nishida, Yoshiki Asayama, Hirotaka Shibata

{"title":"Segmental Adrenal Venous Sampling in Unilateral Primary Aldosteronism With Apparent Bilateral Aldosterone Suppression.","authors":"Shotaro Miyamoto, Yuichi Yoshida, Shuhei Miyamoto, Haruto Nishida, Yoshiki Asayama, Hirotaka Shibata","doi":"10.1210/jcemcr/luae164","DOIUrl":"https://doi.org/10.1210/jcemcr/luae164","url":null,"abstract":"Apparent bilateral adrenal suppression (ABAS), where aldosterone/cortisol ratios in both adrenal veins are lower than in the inferior vena cava, yields uninterpretable adrenal venous sampling (AVS) results and is poorly understood. A 57-year-old male with hypertension and spontaneous hypokalemia was admitted to our hospital. Confirmatory tests established a diagnosis of primary aldosteronism (PA). Initial AVS indicated ABAS, but unilateral PA remained possible due to elevated aldosterone, low renin, hypokalemia, and a right adrenal nodule (8 × 7 mm) on computed tomography. Subsequently, a second, super-selective AVS identified tributaries from areas of aldosterone hypersecretion, enabling accurate localization of unilateral PA. ABAS may occur due to anatomical factors such as dilution by tributaries from nonaldosterone-producing adenoma (APA) areas with suppressed aldosterone production. Super-selective AVS proves beneficial in diagnosing unilateral PA concealed within ABAS by pinpointing tributaries from APA regions.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae164"},"PeriodicalIF":0.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11403205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302654","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

Hyperinsulinemic Hypoglycemia Due to an Insulinoma in a 2-Year-Old Child. 一名两岁儿童因胰岛素瘤导致的高胰岛素血症。

JCEM case reports Pub Date : 2024-09-16 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae161

Lauren M Mitteer, Lisa States, Tricia Bhatti, N Scott Adzick, Katherine Lord, Diva D De León

引用次数: 0

Hematologic Malignancies: Two Cases of a Rare Cause of Hypopituitarism. 血液恶性肿瘤：两例罕见的垂体功能减退症病例

JCEM case reports Pub Date : 2024-09-11 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae147

Brian Lauzon, Tala Abu-Hijleh, Natalia McInnes, Ally Prebtani

{"title":"Hematologic Malignancies: Two Cases of a Rare Cause of Hypopituitarism.","authors":"Brian Lauzon, Tala Abu-Hijleh, Natalia McInnes, Ally Prebtani","doi":"10.1210/jcemcr/luae147","DOIUrl":"https://doi.org/10.1210/jcemcr/luae147","url":null,"abstract":"Hematologic malignancies are rare causes of sellar masses and hypopituitarism. We report 2 cases of hypopituitarism due to sellar masses from hematologic malignancies. The first patient was found to have hypopituitarism but initial non-gadolinium-enhanced magnetic resonance imaging (MRI) sella did not demonstrate a mass. Subsequent gadolinium-enhanced MRI and transsphenoidal biopsy confirmed a diagnosis of intravascular lymphoma. Treatment with systemic chemotherapy resulted in resolution of abnormalities on MRI. The second patient had a known diagnosis of chronic lymphocytic leukemia, and sellar involvement contributing to hypopituitarism was confirmed on biopsy. Treatment with ibrutinib, acalabrutinib, and stereotactic radiosurgery resulted in resolution of abnormalities on MRI. Both patients were treated with hormone replacement for hypopituitarism. These cases highlight that hematologic malignancies should be suspected as causes of sellar masses/hypopituitarism in patients with concurrent symptoms atypical for a pituitary adenoma (eg, constitutional symptoms), known diagnoses of hematologic malignancies, or rapid tumor growth and invasion on imaging. Gadolinium-enhanced MRI should be pursued if nonenhanced MRI is nondiagnostic. Transsphenoidal biopsy can be considered for diagnosis. Malignancy-directed systemic therapy may improve hypopituitarism and radiographic abnormalities on MRI.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae147"},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11387999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302651","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

Multiple Primary Paragangliomas in a Pediatric Patient With von Hippel Lindau: A Diagnostic Dilemma. 一名冯-希佩尔-林道（von Hippel Lindau）儿童患者的多发性原发性副神经节瘤：诊断难题。

JCEM case reports Pub Date : 2024-09-09 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae160

Katelin Magnan, Qian Wang, Julia Meade

{"title":"Multiple Primary Paragangliomas in a Pediatric Patient With von Hippel Lindau: A Diagnostic Dilemma.","authors":"Katelin Magnan, Qian Wang, Julia Meade","doi":"10.1210/jcemcr/luae160","DOIUrl":"https://doi.org/10.1210/jcemcr/luae160","url":null,"abstract":"Pheochromocytoma and paragangliomas (PPGLs) are rare chromaffin cell tumors arising from neural crest tissue. The majority of these tumors are nonmetastatic, with complete cure achieved through surgical resection. PPGLs have been associated with several hereditary cancer syndromes, including von Hippel-Lindau (VHL). We present the case of a 10-year-old patient with VHL and a history of 2 asynchronous pheochromocytomas requiring bilateral adrenalectomies who presented with a new 1.2 cm × 1.3 cm × 1.5 cm nodular structure between the superior pole of the right kidney and the intrahepatic inferior vena cava. The patient was noted to have hypertension but was otherwise asymptomatic. Positron emission tomography-DOTA-(Tyr)3-octreotate revealed a metabolically active retrocrural lymph node. Based on these imaging findings and laboratory studies showing elevated plasma normetanephrine, clinical suspicion was highest for metastatic pheochromocytoma. The patient underwent surgical resection of multiple abdominal tumors. Pathology ultimately favored a diagnosis of multiple primary paragangliomas rather than metastatic disease. With this shift in diagnosis, the patient was managed with surgery alone. One year later, he has no signs of disease recurrence. Long-term surveillance imaging and screening with fractionated plasma metanephrines is indicated to monitor for new tumors in the setting of VHL and 3 prior endocrine tumors.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae160"},"PeriodicalIF":0.0,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11382138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142302653","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

Diagnosing Primary Hyperparathyroidism in Pregnancy: A Case of Altered Parathyroid Hormone Degradation in Pregnancy. 诊断妊娠期原发性甲状旁腺功能亢进症：一个妊娠期甲状旁腺激素降解改变的病例

JCEM case reports Pub Date : 2024-09-05 eCollection Date: 2024-09-01 DOI: 10.1210/jcemcr/luae159

Dianna Luong, Kate Hawke, Elzahn De Waal, Madeline Duke, Penny Wolski

{"title":"Diagnosing Primary Hyperparathyroidism in Pregnancy: A Case of Altered Parathyroid Hormone Degradation in Pregnancy.","authors":"Dianna Luong, Kate Hawke, Elzahn De Waal, Madeline Duke, Penny Wolski","doi":"10.1210/jcemcr/luae159","DOIUrl":"10.1210/jcemcr/luae159","url":null,"abstract":"Diagnosing primary hyperparathyroidism in pregnancy is difficult due to pregnancy-related changes in parathyroid hormone (PTH); calcium; 1,25 vitamin D; and renal calcium excretion. Parathyroid hormone-related peptide (PTHrP) produced by the placenta adds additional complexity. Our case is the first to demonstrate an increased rate of PTH degradation within a pregnant individual who returned unexpectedly low PTH levels. We describe a 27-year-old female patient who presented at 25 weeks gestation with pancreatitis and hypercalcemia. Primary hyperparathyroidism was suspected but variable PTH results led to uncertainty and an assay error was considered. PTH samples were collected in both serum-separating tubes (SST) and EDTA tubes and compared to controls (5 nonpregnant and 5 pregnant individuals). Samples were retested every 2 hours for a period of 10 hours. A rapid decline in the measured PTH was noted in the index case, an observation which differed from controls. We postulated that internal and/or external factors influenced the PTH measurement obtained from our patient. From our observations, rapid PTH degradation in pregnancy, and individual variation in PTH stability and laboratory processes, can influence PTH results and impact on interpreting hypercalcemia in pregnancy.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 9","pages":"luae159"},"PeriodicalIF":0.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375578/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141934","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

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