JCEM case reports最新文献

Avascular Necrosis in Patients With Cushing Syndrome.

JCEM case reports Pub Date : 2025-02-05 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf001

Noa Tal, Serguei Bannykh, Thomas Learch, Adam N Mamelak, Odelia Cooper

{"title":"Avascular Necrosis in Patients With Cushing Syndrome.","authors":"Noa Tal, Serguei Bannykh, Thomas Learch, Adam N Mamelak, Odelia Cooper","doi":"10.1210/jcemcr/luaf001","DOIUrl":"10.1210/jcemcr/luaf001","url":null,"abstract":"Cushing syndrome (CS) results from prolonged exposure to excess glucocorticoids, leading to a range of clinical manifestations including avascular necrosis (AVN), a rare complication of CS. Although AVN is often associated with exogenous glucocorticoid treatment, it can occur in endogenous CS but may be unrecognized because of its rarity and possibly from a subclinical presentation. We describe a case of a 71-year-old male with florid Cushing disease who initially presented with bilateral hip AVN and later developed bilateral shoulder AVN despite achieving biochemical remission following transsphenoidal surgery and adjuvant stereotactic photon radiosurgery. AVN in endogenous CS is underreported, and guidance on routine screening is lacking. Our case underscores the importance of considering AVN in patients with CS, especially in those with persistent or recurrent joint symptoms and markedly elevated cortisol levels. Early detection of AVN is crucial as it can lead to irreversible joint damage and disability if untreated. Screening strategies should be explored to identify high-risk patients who are diagnosed with CS for timely intervention, thereby preventing long-term morbidity associated with AVN.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf001"},"PeriodicalIF":0.0,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11795648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257526","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

Retained Continuous Glucose Monitor Sensor Wire Fragments Presenting as a Swollen Nodule of the Thigh.

JCEM case reports Pub Date : 2025-02-05 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luae253

Lily Deng, Laura Galganski, Mansa Krishnamurthy

引用次数: 0

A Novel and Rare Pathogenic Gene Variant in 2 Patients With Multiple Endocrine Neoplasia Type 1 (MEN-1) Syndrome.

JCEM case reports Pub Date : 2025-02-04 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf003

Jordan C LeSarge, Hani Rjoob, Kristin K Clemens, Stan Van Uum, Laila C Schenkel, Tayyab S Khan

{"title":"A Novel and Rare Pathogenic Gene Variant in 2 Patients With Multiple Endocrine Neoplasia Type 1 (MEN-1) Syndrome.","authors":"Jordan C LeSarge, Hani Rjoob, Kristin K Clemens, Stan Van Uum, Laila C Schenkel, Tayyab S Khan","doi":"10.1210/jcemcr/luaf003","DOIUrl":"10.1210/jcemcr/luaf003","url":null,"abstract":"Multiple endocrine neoplasia type 1 (MEN-1) is a syndrome characterized by development of tumors including parathyroid adenomas, duodenopancreatic neuroendocrine tumors, and pituitary adenomas. We describe 1 patient with a novel and another with a rare pathogenic MEN-1 variant. Case 1 was a 61-year-old woman with recurrent hypercalcemia who ultimately required a subtotal parathyroidectomy, with a thymectomy revealing a thymoma. She then developed a gastrinoma requiring pancreatectomy and also had a biochemically nonfunctioning sellar mass. Genetic testing found a novel MEN1:c.1192delC, p.(Gln398Argfs*47) pathogenic variant. Case 2 was a 38-year-old woman with a family history of MEN-1, who had recurrent hypercalcemia and nephrolithiasis requiring a subtotal parathyroidectomy. She had a macroprolactinoma, but no pancreatic lesions. Genetic testing found a rare MEN1:c.784-9G > A pathogenic variant. MEN-1 syndrome should be considered in patients presenting with 1 or more classical MEN-1-associated tumors based on clinical suspicion.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf003"},"PeriodicalIF":0.0,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11791340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191407","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

Diagnostic Challenges in a Case of Refractory Severe Hypercalcemia Due to Splenic Sarcoidosis. 脾肉瘤病引起的难治性严重高钙血症病例的诊断难题。

JCEM case reports Pub Date : 2025-02-04 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf011

Jeremy A Knott, Andrea R Horvath, Thaw D Htet

引用次数: 0

46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism. 46,XX 睾丸性发育障碍 (DSD) 表现为男性性腺功能减退症。

JCEM case reports Pub Date : 2025-02-04 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luae237

Run Ting Chin, Shao Feng Mok

引用次数: 0

Concomitant Exacerbation of Graves Orbitopathy and Double-Seronegative Myasthenia Gravis after SARS-CoV-2 Infection.

JCEM case reports Pub Date : 2025-01-29 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf019

Yuto Nakano, Ken Takeshima, Yasushi Furukawa, Shuhei Morita, Mayumi Sakata, Taka-Aki Matsuoka

{"title":"Concomitant Exacerbation of Graves Orbitopathy and Double-Seronegative Myasthenia Gravis after SARS-CoV-2 Infection.","authors":"Yuto Nakano, Ken Takeshima, Yasushi Furukawa, Shuhei Morita, Mayumi Sakata, Taka-Aki Matsuoka","doi":"10.1210/jcemcr/luaf019","DOIUrl":"10.1210/jcemcr/luaf019","url":null,"abstract":"SARS-CoV-2 infection could trigger autoimmune disease. We report a case of concomitant exacerbation of Graves orbitopathy (GO) and myasthenia gravis (MG) after SARS-CoV-2 infection. A 43-year-old woman had diplopia, proptosis, and swollen eyelids. Blood tests showed thyrotoxicosis and positive thyroid-stimulating hormone receptor antibodies, and orbital magnetic resonance imaging (MRI) showed enlarged extraocular muscles. She was therefore referred to our hospital with diagnosis of GO. Methylprednisolone pulse therapy (MPT) in combination with orbital radiotherapy were performed for 3 weeks, and ocular symptoms improved. At 41 weeks, the patient was infected with SARS-CoV-2 and felt sudden worsening of diplopia and ptosis. MRI showed an enlarged right inferior rectus muscle. MPT and orbital radiotherapy were performed again for 3 weeks for the suspected GO, but there was insufficient improvement of the ptosis. Serum antiacetylcholine receptor and anti-muscle-specific tyrosine kinase antibodies were negative, but the patient was further evaluated with repetitive nerve stimulation test and ice pack test, and diagnosis was double-seronegative MG. Pyridostigmine treatment led to dramatic improvement of the ptosis. SARS-CoV-2 infection could exacerbate MG as well as GO. Careful diagnosis is required for ocular symptoms after SARS-CoV-2 infection, especially when there is double-seronegative MG.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf019"},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11775584/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070044","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 Increase Induced by Oral Administration of Melatonin in a Young Woman With Sleep Disturbances.

JCEM case reports Pub Date : 2025-01-28 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf006

Angelo Di Vincenzo, Eva Zabeo, Chiara Purificati, Marco Rossato

{"title":"Growth Hormone Increase Induced by Oral Administration of Melatonin in a Young Woman With Sleep Disturbances.","authors":"Angelo Di Vincenzo, Eva Zabeo, Chiara Purificati, Marco Rossato","doi":"10.1210/jcemcr/luaf006","DOIUrl":"10.1210/jcemcr/luaf006","url":null,"abstract":"Growth hormone (GH) secretion by the pituitary is regulated by stimulatory and inhibitory pathways such as growth hormone releasing hormone (GHRH) and somatostatin, respectively, being also modulated by different neurotransmitters acting at the hypothalamic/pituitary level. The pineal gland hormone melatonin regulates GH secretion in many mammals, including humans, although its role in modulating GH secretion has been debated. We describe the case of a young woman chronically taking melatonin for sleep disturbances, referring to her general practitioner for flushing that appeared just after starting melatonin intake. Laboratory findings showed elevated plasma levels of GH and insulin-like growth factor-1 (IGF-1). She did not show clinical features resembling acromegaly. The evaluation of pituitary and pituitary end organ hormones showed normal plasma levels of luteinizing hormone (LH), follicle stimulating hormone (FSH), thyroid stimulating hormone (TSH), estradiol, free thyroid hormones, cortisol, and prolactin. Urinary 5-hydroxyindoleacetic acid levels were normal. One month after melatonin withdrawal, her plasma levels of GH, together with IGF-1, completely normalized. An oral glucose suppression test showed a normal response of GH secretion, further excluding an autonomous secretion. Physicians should be aware of the possible interference of melatonin on GH secretion to prevent misleading diagnosis of autonomous secretion thus avoiding valueless and costly clinical investigations.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf006"},"PeriodicalIF":0.0,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11773383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061363","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

Metastatic Insulinoma Managed With Continuous Glucose Monitoring in a Young Female Patient.

JCEM case reports Pub Date : 2025-01-24 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf005

Darya Bondarenko, Franklin L Thelmo, Monika K Shirodkar

引用次数: 0

A Novel Pathogenic CDC73 Gene Variant in Hyperparathyroidism-jaw Tumor Syndrome.

JCEM case reports Pub Date : 2025-01-24 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf016

Yuto Ishida, Rei Hirose, Masahide Nakano, Yuya Tsurutani

{"title":"A Novel Pathogenic CDC73 Gene Variant in Hyperparathyroidism-jaw Tumor Syndrome.","authors":"Yuto Ishida, Rei Hirose, Masahide Nakano, Yuya Tsurutani","doi":"10.1210/jcemcr/luaf016","DOIUrl":"10.1210/jcemcr/luaf016","url":null,"abstract":"Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare hereditary disorder caused by pathogenic CDC73 gene variants. We report the case of a patient with HPT-JT who carried a novel germline pathogenic CDC73 variant. A 27-year-old woman presented with thirst, polyuria, fatigue, constipation, and a history of fibro-osseous mandible lesions and endometrial polyps. Examination revealed hypercalcemia and grossly elevated PTH levels with hypercalciuria accompanied by a right lower parathyroid tumor with concordant imaging, suggesting primary hyperparathyroidism (PHPT). Given that she had early-onset PHPT and a history of fibro-osseous mandible lesions, HPT-JT was suspected. Genetic testing identified a novel frameshift variant in exon 1 of CDC73. En bloc resection was planned based on the suspicion of parathyroid carcinoma. However, because no findings suggestive of carcinoma were observed intraoperatively, thyroidectomy was not performed. Despite the surgery, PHPT persisted postoperatively, and further evaluation revealed the presence of a residual ectopic left upper parathyroid adenoma, necessitating additional surgery. High-impact pathogenic CDC73 variants are linked to a high risk of parathyroid carcinoma and multiglandular disease. In patients with such variants and clinically suspected parathyroid carcinoma, bilateral neck exploration with subtotal parathyroidectomy may be recommended, with en bloc resection added if intraoperative findings suggest carcinoma.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf016"},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11758138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049005","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

Panhypopituitarism in Neurosarcoidosis: Pituitary-Hypothalamic Involvement Successfully Managed With Rituximab.

JCEM case reports Pub Date : 2025-01-24 eCollection Date: 2025-02-01 DOI: 10.1210/jcemcr/luaf014

Regina de Miguel Ibañez, Pattsy Etual Espinosa Cárdenas, Manuel Ramón García Sáenz, Bayron A Sandoval Bonilla

{"title":"Panhypopituitarism in Neurosarcoidosis: Pituitary-Hypothalamic Involvement Successfully Managed With Rituximab.","authors":"Regina de Miguel Ibañez, Pattsy Etual Espinosa Cárdenas, Manuel Ramón García Sáenz, Bayron A Sandoval Bonilla","doi":"10.1210/jcemcr/luaf014","DOIUrl":"10.1210/jcemcr/luaf014","url":null,"abstract":"Neurosarcoidosis (NS) is a rare form of sarcoidosis, with isolated hypothalamic-pituitary involvement being exceptionally uncommon. We report a 20-year-old woman presenting with polyuria, galactorrhea, amenorrhea, and substantial weight loss. Hormonal evaluation revealed hypopituitarism with arginine-vasopressin deficiency and hyperprolactinemia. Magnetic resonance imaging demonstrated pituitary stalk thickening and suprasellar extension, initially suggestive of hypophysitis. High-dose glucocorticoid therapy resulted in partial regression of the pituitary lesion but persistence of suprasellar involvement, prompting a transcranial stereotactic biopsy. Histopathological analysis confirmed isolated NS with noncaseating granulomas. The patient was treated with rituximab after partial response to glucocorticoids, achieving significant clinical and radiological improvement, although hormonal axis recovery was not observed. Hormone replacement therapy remains necessary. The case met the criteria for definitive type b NS, as no extraneural involvement was identified. This case underscores the diagnostic challenges of isolated NS and highlights the importance of considering histopathological confirmation in patients without systemic manifestations to guide treatment. Glucocorticoids are first-line therapy, but rituximab may be effective as a second-line option for refractory cases. Early diagnosis and tailored therapy are essential to improving outcomes in this rare and challenging condition.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 2","pages":"luaf014"},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11758143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049012","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