JCEM case reports最新文献_第10页

A Diagnosis of Turner Syndrome in the Eighth Decade of Life. 在生命的第八个十年诊断出特纳综合征。

JCEM case reports Pub Date : 2024-06-21 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae104

Ruveena Kaur, Susannah O'Sullivan

引用次数: 0

Gonadal Failure in a Male With 3-M Syndrome. 一名男性 3-M 综合征患者的性腺功能衰竭

JCEM case reports Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae084

Irena Aldhoon-Hainerova, Elizabeth Baranowski, Esther Kinning, Renuka P Dias

引用次数: 0

Random Occurrence or Real Association? Primary Hyperparathyroidism in a Young Man With Sickle Cell Disease. 偶然发生还是真实关联？镰状细胞病青年患者的原发性甲状旁腺功能亢进症

JCEM case reports Pub Date : 2024-06-05 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae068

Raul Lopez Fanas, Rateb Fouad, Kristin A Swedish

引用次数: 0

Two Cases of Symptomatic Familial Hypocalciuric Hypercalcemia: Treatment Response to Calcimimetic Therapy. 两例症状性家族性高钙血症：对拟骨化疗法的治疗反应。

JCEM case reports Pub Date : 2024-06-03 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae096

Jonathan Shakesprere, Ramsha Shafiq, Inderpreet Madahar, Hugh B Quinn, Yashan Thakkar, Adnan Haider

{"title":"Two Cases of Symptomatic Familial Hypocalciuric Hypercalcemia: Treatment Response to Calcimimetic Therapy.","authors":"Jonathan Shakesprere, Ramsha Shafiq, Inderpreet Madahar, Hugh B Quinn, Yashan Thakkar, Adnan Haider","doi":"10.1210/jcemcr/luae096","DOIUrl":"10.1210/jcemcr/luae096","url":null,"abstract":"Familial hypocalciuric hypercalcemia (FHH) is marked by mild to moderate hypercalcemia, normal-elevated serum PTH levels, and relative hypocalciuria. Cinacalcet, a calcimimetic therapy, has been reported to reduce symptom burden and serum calcium levels in FHH. We report 2 adult males with chronic hypercalcemia, with initial concerns for primary hyperparathyroidism. Urine calcium screening and genetic testing confirmed FHH in both patients. Shortened QTc normalized while on cinacalcet in the first patient and reductions in serum calcium and PTH levels without symptomatic hypercalcemia were noted in the second patient. Calcimimetic therapy can potentially be offered to FHH patients, particularly those with hypercalcemia symptoms, serum calcium levels >1 mg/dL (0.25 mmol/L) above normal or at risk of cardiac arrhythmias. Cinacalcet treatment was overall well tolerated and significantly reduced serum calcium and PTH levels in 2 adult FHH patients over time. Calcimimetic therapy has shown promise in managing persistent hypercalcemia and potential adverse events in FHH patients. Potential barriers include indefinite treatment, cost, and possible adverse effects.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae096"},"PeriodicalIF":0.0,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141238880","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

Diabetes Insipidus Complicating Diabetes Mellitus Type 1: A Pituitary Abscess Diagnosis. 1 型糖尿病并发尿崩症：垂体脓肿诊断。

JCEM case reports Pub Date : 2024-06-03 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae057

Barbara Lionetti, Nicola Minuto, Marta Bassi, Flavia Napoli

{"title":"Diabetes Insipidus Complicating Diabetes Mellitus Type 1: A Pituitary Abscess Diagnosis.","authors":"Barbara Lionetti, Nicola Minuto, Marta Bassi, Flavia Napoli","doi":"10.1210/jcemcr/luae057","DOIUrl":"10.1210/jcemcr/luae057","url":null,"abstract":"In this report we present a case of a 14-year-old girl with type 1 diabetes mellitus (T1DM) who experienced glycemic instability and multiple hormonal deficits, including diabetes insipidus, central hypothyroidism, and central adrenal insufficiency. Brain and sellar magnetic resonance imaging revealed a mass in the suprasellar region, which was confirmed to be a pituitary abscess through transsphenoidal biopsy. T1DM is a chronic systemic disease that can lead to suboptimal glycemic control and increased susceptibility to infections. Pituitary abscess is a rare and serious infection that can manifest with nonspecific signs and symptoms, as well as pituitary hormonal deficiencies. Currently, after a 6-year follow-up the pituitary hormone deficiencies have resolved apart from persistent partial diabetes insipidus. Through a review of the current literature, we discuss the clinical characteristics of pituitary abscess, the challenges in diagnosing it, and speculate on the potential clinical and pathophysiological relationship between this uncommon infection and T1DM in our patient.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae057"},"PeriodicalIF":0.0,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141238846","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

Prolonged Adrenal Insufficiency After Osilodrostat Exposure With Eventual Recovery of Adrenal Function. 奥西洛德司他暴露后的长期肾上腺功能不全，最终肾上腺功能恢复。

JCEM case reports Pub Date : 2024-06-03 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae088

Sanaa Tejani, Jessica Abramowitz, Nicholas A Tritos, Oksana Hamidi, Sasan Mirfakhraee

{"title":"Prolonged Adrenal Insufficiency After Osilodrostat Exposure With Eventual Recovery of Adrenal Function.","authors":"Sanaa Tejani, Jessica Abramowitz, Nicholas A Tritos, Oksana Hamidi, Sasan Mirfakhraee","doi":"10.1210/jcemcr/luae088","DOIUrl":"10.1210/jcemcr/luae088","url":null,"abstract":"Osilodrostat is an 11β-hydroxylase inhibitor used in the treatment of adult patients with Cushing disease. Prolonged adrenal insufficiency (AI) after osilodrostat use is a rare but significant adverse effect. We present the case of a 41-year-old woman treated with osilodrostat for persistent hypercortisolism following pituitary surgery and Gamma Knife radiosurgery. After 11 months of osilodrostat therapy, she reported AI symptoms, and biochemical testing revealed low serum cortisol following cosyntropin stimulation as well as high plasma adrenocorticotropic hormone (ACTH). The patient was started on physiologic replacement dose of hydrocortisone, which was discontinued 23 months after last osilodrostat exposure when laboratory testing revealed recovery of endogenous cortisol production. The mechanism responsible for the prolonged AI noted with osilodrostat use is unclear and unexpected, given the short half-life of the drug. Although prolonged AI after osilodrostat use is not well understood, providers should be aware of this potential adverse effect and have a low threshold to test for AI in patients reporting AI-related symptoms.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae088"},"PeriodicalIF":0.0,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146141/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141238849","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

Gut Microbiome Alterations Accompany Metabolic Normalization Following Bariatric Surgery in ROHHAD Syndrome. ROHHAD 综合征患者接受减肥手术后，肠道微生物组的变化伴随着代谢正常化。

JCEM case reports Pub Date : 2024-06-03 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae091

Alessandra Granato, Paul M Ryan, Anthony Wong, Jill K Hamilton, Jayne S Danska

{"title":"Gut Microbiome Alterations Accompany Metabolic Normalization Following Bariatric Surgery in ROHHAD Syndrome.","authors":"Alessandra Granato, Paul M Ryan, Anthony Wong, Jill K Hamilton, Jayne S Danska","doi":"10.1210/jcemcr/luae091","DOIUrl":"10.1210/jcemcr/luae091","url":null,"abstract":"Rapid onset obesity with hypoventilation, hypothalamic, and autonomic dysregulation (ROHHAD) syndrome in childhood is characterized by abrupt onset weight gain and dysautonomia with variable neuroendocrine involvement. In the absence of definitive disease-modifying therapies, the primary management strategy remains symptom control. This case report describes the first successful correction of obesity, dysautonomia, and metabolic derangement in a patient with ROHHAD following Roux-en-Y gastric bypass. Anthropometrics, metabolic profiling, and stool microbiome composition were assessed in a longitudinal fashion. In the 48-month period following surgery, the patient body mass index (BMI) reduced by 9.5 kg/m2 and metabolic status improved, evidenced in weaning of insulin, and improved glycated hemoglobin, lipid profile, and hepatic enzymes. Chronic diarrhea resolved after surgery and prior to significant weight loss. Evaluation of stool bacterial composition and biomass demonstrated shifts in absolute abundance and taxonomic composition in longitudinal samples following surgery. This case demonstrates the potential efficacy of bariatric surgery in correcting the metabolic disruption of ROHHAD syndrome, producing long-term changes in gut microbiome composition and biomass.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae091"},"PeriodicalIF":0.0,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141238848","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

Correction to: "Emerging Role of Gallium-68 DOTANOC PET/CT Guided Radiofrequency Ablation in the Treatment of Tumor-induced Osteomalacia". 更正："镓-68 DOTANOC PET/CT 引导射频消融在治疗肿瘤诱发骨软化症中的新作用》。

JCEM case reports Pub Date : 2024-05-31 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae111

引用次数: 0

Tumor-Induced Osteomalacia due to Sarcomatoid Non-Small Cell Lung Carcinoma Confounded by Drug-Induced Fanconi Syndrome. 肉瘤样非小细胞肺癌导致的肿瘤诱发骨质疏松症与药物诱发的范可尼综合征相混淆

JCEM case reports Pub Date : 2024-05-30 eCollection Date: 2024-06-01 DOI: 10.1210/jcemcr/luae101

Bassam AlHamer, Ajit Singh, Carmen Patrascu, Mona Al Mukaddam

{"title":"Tumor-Induced Osteomalacia due to Sarcomatoid Non-Small Cell Lung Carcinoma Confounded by Drug-Induced Fanconi Syndrome.","authors":"Bassam AlHamer, Ajit Singh, Carmen Patrascu, Mona Al Mukaddam","doi":"10.1210/jcemcr/luae101","DOIUrl":"10.1210/jcemcr/luae101","url":null,"abstract":"Tumor-induced osteomalacia (TIO) is an exceedingly rare paraneoplastic condition characterized by hypophosphatemia, osteomalacia, fragility fractures, and fatigue. A 39-year-old man was assessed for hemoptysis, pathological rib fractures, and fatigue, and was found to have a chest mass with lung metastasis. Biopsy of the mass suggested high-grade epithelioid and spindle cell neoplasm. He was initially treated for soft tissue sarcoma with an ifosfamide-based regimen and developed Fanconi syndrome that resolved on cessation of ifosfamide. Serum phosphate remained low. A low tubular maximum reabsorption of phosphate to glomerular filtration rate ratio (TmP/GFR) indicated disproportionate phosphaturia, while a severely elevated fibroblast growth factor-23 (FGF23) level enabled a diagnosis of TIO. He was started on phosphate and calcitriol supplementation. Subsequent next-generation sequencing demonstrated a RET-fusion mutation, leading to reclassification of his malignancy to a sarcomatoid non-small cell lung carcinoma. He was switched to selpercatinib, a targeted RET-kinase inhibitor approved for locally advanced or metastatic RET-fusion-positive solid tumors. This induced tumor remission with subsequent normalization of his FGF23 levels and hypophosphatemia. Despite the presence of a confounding etiology like drug-induced Fanconi syndrome, persistence of hypophosphatemia should prompt a workup of TIO, especially in the presence of a tumor.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"2 6","pages":"luae101"},"PeriodicalIF":0.0,"publicationDate":"2024-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11137757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180369","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

Abiraterone in Classic Congenital Adrenal Hyperplasia: Results of Medical Therapy Before Adrenalectomy 阿比特龙治疗典型先天性肾上腺增生症：肾上腺切除术前药物治疗的结果

JCEM case reports Pub Date : 2024-05-24 DOI: 10.1210/jcemcr/luae077

Bronwyn G A Stuckey, Deila Dedic, Rui Zhang, Amira Rabbah, Adina F. Turcu, R. Auchus

引用次数: 0