JCEM case reports最新文献_第2页

Resolution of Hashimoto thyroiditis with Janus kinase inhibitor therapy in a patient with alopecia universalis. 用Janus激酶抑制剂治疗普遍秃患者桥本甲状腺炎的疗效。

JCEM case reports Pub Date : 2026-04-24 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag074

Susanne Ursula Trost, Angela Radulescu

{"title":"Resolution of Hashimoto thyroiditis with Janus kinase inhibitor therapy in a patient with alopecia universalis.","authors":"Susanne Ursula Trost, Angela Radulescu","doi":"10.1210/jcemcr/luag074","DOIUrl":"https://doi.org/10.1210/jcemcr/luag074","url":null,"abstract":"Hashimoto thyroiditis (HT) is the most common autoimmune thyroid disorder, marked by lymphocytic inflammation and progressive hypothyroidism. Its pathophysiology involves both T-cell-mediated tissue destruction and the production of autoantibodies against thyroid peroxidase (TPO) and thyroglobulin, with TPO antibodies present in over 90% of cases. Standard treatment with thyroid hormone replacement can leave residual symptoms, highlighting the need for disease-modifying therapies. Recent advances in immunotherapy have identified Janus kinase inhibitors, such as tofacitinib and baricitinib, as promising agents for autoimmune conditions. These drugs target the Janus kinase/signal transducer and activator of transcription pathway, which mediates pro-inflammatory cytokines implicated in HT, including interferon-γ and interleukin-6. We report a case of a 44-year-old woman with both alopecia universalis and HT who experienced normalization of TPO antibody levels, no longer requiring thyroid hormone treatment following JAK inhibitor therapy for alopecia universalis-suggesting possible reversal of HT. This case highlights the immunomodulatory potential of JAK inhibitors in HT and supports further investigation into their therapeutic role in addressing both hormonal and autoimmune mechanisms in thyroid disease.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag074"},"PeriodicalIF":0.0,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13107172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147790991","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

Recurrent insulin edema in an adolescent with type 2 diabetes mellitus. 2型糖尿病青少年复发性胰岛素水肿1例。

JCEM case reports Pub Date : 2026-04-24 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag118

Lala Mammadova, Alexandra Delano, Victor Hugo Ramirez, Jose Bernardo Quintos

引用次数: 0

Rare β-human chorionic gonadotrophin-secreting urothelial carcinoma initially presenting as gynecomastia. 罕见的β-人绒毛膜促性腺激素分泌尿路上皮癌，最初表现为男性乳房发育。

JCEM case reports Pub Date : 2026-04-24 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag064

Gillian M Hoogstraet, Nicola Gathaiya, Paul W Koontz

{"title":"Rare β-human chorionic gonadotrophin-secreting urothelial carcinoma initially presenting as gynecomastia.","authors":"Gillian M Hoogstraet, Nicola Gathaiya, Paul W Koontz","doi":"10.1210/jcemcr/luag064","DOIUrl":"https://doi.org/10.1210/jcemcr/luag064","url":null,"abstract":"Gynecomastia is a relatively common condition arising from disproportionate concentrations of estrogen and androgen. Most cases of bilateral gynecomastia in men are idiopathic or drug-induced but can rarely arise secondary to malignancy. We present the case of a 57-year-old male who presented with new-onset gynecomastia and recurrent episodes of hematuria. Laboratory testing revealed elevated estradiol, free testosterone, and β-human chorionic gonadotropin (β-hCG) with suppressed luteinizing hormone (LH) and follicle stimulating hormone (FSH), concerning for ectopic β-hCG secretion. Mammography, breast and testicular ultrasonography, and chest computed tomography demonstrated no evidence of breast, testicular, or lung malignancy. Concurrent evaluation of hematuria with cystoscopy identified a 6-cm tumor on the posterior bladder wall. The patient underwent transurethral resection of the bladder tumor and was diagnosed with papillary high-grade T1 urothelial carcinoma. The β-hCG immunohistochemical staining of the tumor was positive, and the patient's β-hCG level was undetectable 1 month postoperatively. A review of the literature revealed there are only a few reports detailing urothelial carcinomas capable of secreting β-hCG. To the best of our knowledge, this is the first case of a β-hCG-secreting papillary T1 urothelial carcinoma initially presenting as gynecomastia.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag064"},"PeriodicalIF":0.0,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13107182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791051","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

Melatonin improves postprandial hypoglycemia: an unusual presentation of insulinoma. 褪黑素改善餐后低血糖：胰岛素瘤的一种不寻常的表现。

JCEM case reports Pub Date : 2026-04-24 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag067

Thanh Nguyen, Aleksey Matveyenko, Galina Smushkin

{"title":"Melatonin improves postprandial hypoglycemia: an unusual presentation of insulinoma.","authors":"Thanh Nguyen, Aleksey Matveyenko, Galina Smushkin","doi":"10.1210/jcemcr/luag067","DOIUrl":"https://doi.org/10.1210/jcemcr/luag067","url":null,"abstract":"Insulinoma is the most prevalent neuroendocrine tumor of the pancreas, presenting with a spectrum of neuroglycopenic symptoms. This case report describes a 64-year-old woman with primarily postprandial hypoglycemia, resulting in altered consciousness and confusion occurring several hours after meals. Continuous glucose monitoring (CGM) was used to establish the postprandial pattern of the patient's hypoglycemia, and this facilitated the confirmatory biochemical evaluation by a single blood draw done at the time of symptoms, without performing a 72-hour fast. Imaging demonstrated an 11-mm tumor in the pancreas, which was removed and confirmed to be a well-differentiated neuroendocrine tumor on histopathology. While awaiting pancreatic surgery, the patient began taking melatonin for sleep and reported an improvement in the frequency and severity of hypoglycemia symptoms, which was supported by CGM data and a robust expression of melatonin receptors on the excised tumor. This case raises interest in the role of melatonin receptor signaling in counteracting hyperinsulinemia and corresponding hypoglycemia in patients with insulinoma.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag067"},"PeriodicalIF":0.0,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13106231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791452","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

Autoimmune adrenalitis and an adrenal tumor: a rare cause of elevated 17-hydroxyprogesterone and secondary amenorrhea. 自身免疫性肾上腺炎和肾上腺肿瘤：17-羟孕酮升高和继发性闭经的罕见原因。

JCEM case reports Pub Date : 2026-04-22 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag050

Laurel Walfish, Liane Feldman, Oluyomi Ajise, Juan Rivera

{"title":"Autoimmune adrenalitis and an adrenal tumor: a rare cause of elevated 17-hydroxyprogesterone and secondary amenorrhea.","authors":"Laurel Walfish, Liane Feldman, Oluyomi Ajise, Juan Rivera","doi":"10.1210/jcemcr/luag050","DOIUrl":"https://doi.org/10.1210/jcemcr/luag050","url":null,"abstract":"Primary adrenal insufficiency (AI) is characterized by insufficient adrenal cortisol production, even with very high adrenocorticotrophic hormone (ACTH) stimulation. Despite massive stimulation of the adrenal cortex in primary AI, there is scarce data describing an association between autoimmune AI and adrenal tumors. This report describes a 17-year-old female presenting with secondary amenorrhea, elevated 17-hydroxyprogesterone (17-OHP) and a lipid-poor adrenal tumor. She was subsequently found to have very low morning cortisol, markedly high ACTH, and positive anti-adrenal antibodies. The diagnosis of autoimmune adrenalitis causing primary AI was made. Fluorodeoxyglucose positron emission tomography (FDG-PET) scan demonstrated intense uptake (standardized uptake value (SUV) of 19.4) in the adrenal lesion. Laparoscopic adrenalectomy revealed a benign adrenal cortical adenoma. Her 17-OHP normalized postoperatively, and her menses resumed with treatment of adrenal insufficiency. This case highlights an interesting coincidence of an adrenal adenoma and primary autoimmune adrenalitis, resulting in elevated 17-OHP and amenorrhea. Low expression of 21-hydroxylase in adrenal adenomas has been previously documented and is suspected in this patient, unmasked by chronic ACTH stimulation.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag050"},"PeriodicalIF":0.0,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13100504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791346","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

Pituitary apoplexy presenting as refractory hyponatremia. 垂体性中风表现为难治性低钠血症。

JCEM case reports Pub Date : 2026-04-22 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag052

Samira Chandra, Thomas Banh, Soumya Thumma, Shrikant Tamhane, Luis Augusto Juncos

{"title":"Pituitary apoplexy presenting as refractory hyponatremia.","authors":"Samira Chandra, Thomas Banh, Soumya Thumma, Shrikant Tamhane, Luis Augusto Juncos","doi":"10.1210/jcemcr/luag052","DOIUrl":"https://doi.org/10.1210/jcemcr/luag052","url":null,"abstract":"A previously healthy 24-year-old man presented with subacute worsening headache. Initial evaluation revealed euvolemic hypotonic hyponatremia and central hypothyroidism. Brain magnetic resonance imaging (MRI) demonstrated a sellar lesion concerning for a Rathke cleft cyst vs hemorrhagic macroadenoma. His hyponatremia was initially attributed to syndrome of inappropriate antidiuretic hormone and treated with fluid restriction and hypertonic saline. However, his hyponatremia and neurologic symptoms worsened. Given the patient's headache and sellar pathology, pituitary apoplexy was considered. A pituitary panel was obtained and empiric hormone replacement therapy initiated with IV hydrocortisone (100 mg every 6 hours) and levothyroxine (100 mcg daily). His symptoms and laboratory abnormalities improved to near-complete resolution within 72 hours. Pituitary testing confirmed panhypopituitarism. The patient was discharged on levothyroxine and a hydrocortisone taper. A follow-up pituitary MRI demonstrated interval reduction in lesion size. At 6-month follow-up, recovery of the pituitary axes was observed except for residual GH deficiency. Pituitary apoplexy is a medical emergency requiring prompt recognition and initiation of hormone replacement therapy. Secondary adrenal failure may cause hyponatremia that is refractory to standard therapy, thus mandating its consideration in this setting.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag052"},"PeriodicalIF":0.0,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13100656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147790629","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

Pseudogout attack following zoledronic acid treatment in primary hyperparathyroidism. 唑来膦酸治疗原发性甲状旁腺功能亢进后假性发作。

JCEM case reports Pub Date : 2026-04-22 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag068

Yasemin Emur Gunay, Mahmut Gunay

{"title":"Pseudogout attack following zoledronic acid treatment in primary hyperparathyroidism.","authors":"Yasemin Emur Gunay, Mahmut Gunay","doi":"10.1210/jcemcr/luag068","DOIUrl":"https://doi.org/10.1210/jcemcr/luag068","url":null,"abstract":"Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, clinically known as pseudogout (PG), is an acute inflammatory arthritis that may rarely occur following bisphosphonate (BP) exposure. Zoledronic acid (ZA) is widely used for osteoporosis and hypercalcemia; however, crystal-induced arthritis is an uncommon adverse event. We describe a 65-year-old woman with primary hyperparathyroidism (PHPT) presenting with persistent hypercalcemia. Initial laboratory evaluation showed calcium of 11.1 mg/dL (SI: 2.78 mmol/L) (reference range, 8.8-10.2 mg/dL [SI: 2.20-2.55 mmol/L]) and parathyroid hormone of 89.31 pg/mL (SI: 9.47 pmol/L) (reference range, 15-65 pg/mL [SI: 1.6-6.9 pmol/L]). Imaging failed to localize a parathyroid lesion. Due to uncontrolled hypercalcemia and osteoporosis, intravenous ZA was administered. Three days later, she developed nausea, diffuse musculoskeletal pain, and laboratory findings consistent with acute kidney injury, requiring hospitalization. On the third hospital day, acute pain, swelling, warmth, and restricted movement occurred in the right elbow. Septic arthritis was excluded after negative cultures. Rheumatologic evaluation confirmed PG. Corticosteroid therapy led to rapid improvement. Advanced age, PHPT, baseline hypercalcemia, and a rapid calcium decline likely contributed to the CPPD crystal flare. Clinicians should consider PG after bisphosphonate use.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag068"},"PeriodicalIF":0.0,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13100499/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791017","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 mutation in FN1 causing spondylometaphyseal dysplasia corner fracture type in a multigenerational family. 在一个多代家庭中，一种新的FN1突变导致脊椎干骺端发育不良角骨折型。

JCEM case reports Pub Date : 2026-04-22 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag116

Christopher Woody, Ronald Gwinn, Rose Guo, Aimee Morrow, Janet Rubin

引用次数: 0

Primary hyperparathyroidism due to dual parathyroid adenomas: one orthotopic, one intrathymic in ectopic cervical thymus. 原发性甲状旁腺功能亢进，由双甲状旁腺瘤引起：异位颈胸腺一例为正位，一例为胸腺内。

JCEM case reports Pub Date : 2026-04-22 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag061

Migdalia Iglesias, Jason Lewis, Jeffrey Janus, Ejigayehu Abate, Ana-Maria Chindris

{"title":"Primary hyperparathyroidism due to dual parathyroid adenomas: one orthotopic, one intrathymic in ectopic cervical thymus.","authors":"Migdalia Iglesias, Jason Lewis, Jeffrey Janus, Ejigayehu Abate, Ana-Maria Chindris","doi":"10.1210/jcemcr/luag061","DOIUrl":"https://doi.org/10.1210/jcemcr/luag061","url":null,"abstract":"Primary hyperparathyroidism is most commonly caused by a single parathyroid adenoma. Multiple and ectopic adenomas are less common and can present diagnostic challenges. We present the case of a 57-year-old woman with hypercalcemia, hypercalciuria, and inappropriately normal parathyroid hormone (PTH) levels. Sestamibi scan did not demonstrate abnormal uptake; however, contrast-enhanced 4-dimensional computed tomography imaging reported 2 candidate lesions described as tubular shaped structures located posterior to the inferior pole of each thyroid lobe. Surgical exploration was performed and the surgical pathology reported hypercellular parathyroid tissue resected from the left inferior thyroid bed and benign thymic tissue with embedded hypercellular parathyroid tissue resected from the right inferior thyroid bed. Postoperative calcium levels normalized, and the patient remained eucalcemic at 1-year follow-up. This case underscores the importance of embryologic understanding and thorough surgical exploration in patients with biochemically confirmed primary hyperparathyroidism and inconclusive imaging.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag061"},"PeriodicalIF":0.0,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13100502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147790979","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

Unexplained hypercapnia with normal pulmonary evaluation in a patient receiving semaglutide: a diagnostic challenge. 接受西马鲁肽治疗的患者肺部评价正常的不明原因高碳酸血症：一个诊断挑战。

JCEM case reports Pub Date : 2026-04-22 eCollection Date: 2026-05-01 DOI: 10.1210/jcemcr/luag121

Sai Prasad, Aarushi Ahuja, Laxmansa C Katwa, Shreya Sharma, Vidhi Parmar, Shaily Agrawal

{"title":"Unexplained hypercapnia with normal pulmonary evaluation in a patient receiving semaglutide: a diagnostic challenge.","authors":"Sai Prasad, Aarushi Ahuja, Laxmansa C Katwa, Shreya Sharma, Vidhi Parmar, Shaily Agrawal","doi":"10.1210/jcemcr/luag121","DOIUrl":"https://doi.org/10.1210/jcemcr/luag121","url":null,"abstract":"Glucagon-like peptide-1 (GLP-1) receptor agonists are widely used for the management of obesity; however, respiratory complications are rarely documented. A 40-year-old person without diabetes with obesity (body mass index [BMI] 36 kg/m2) developed excessive daytime sleepiness and morning headaches four weeks after semaglutide dose escalation to 1 mg per week. Arterial blood gas analysis revealed respiratory acidosis (pH 7.33 [reference range (RR): 7.35-7.45], partial pressure of arterial carbon dioxide [PaCO2] 56 mmHg [RR: 35-45 mmHg]) with a normal alveolar-arterial (A-a) gradient. A comprehensive evaluation excluded conventional causes of hypercapnia. Overnight capnographic monitoring using transcutaneous carbon dioxide (CO2) demonstrated sustained nocturnal hypercapnia without apneic events (Apnea-Hypopnea Index [AHI] < 5 events/hour), suggesting impaired central ventilatory drive rather than sleep-disordered breathing. Following semaglutide discontinuation and temporary noninvasive ventilation (NIV), symptoms resolved within 10 days. Arterial blood gas levels normalized at 3 weeks (pH 7.38, PaCO2 44 mmHg). The patient remained asymptomatic at the 3-month follow-up. This case demonstrates a previously uncharacterized association between semaglutide and reversible central respiratory depression. Clinicians should remain vigilant for unexplained hypercapnia in individuals receiving GLP-1 receptor agonists, particularly following dose escalation.","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"4 5","pages":"luag121"},"PeriodicalIF":0.0,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13100657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791136","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