JCEM case reports最新文献

Hypercalcemia is frequently encountered in clinical practice; however, sarcoidosis-induced hypercalcemia is relatively uncommon and requires careful evaluation, particularly when initial investigations are inconclusive or the hypercalcemia is refractory to standard treatment. We present a complex case of a 60-year-old female with chronic stage IV diabetic nephropathy who presented with acute severe asymptomatic hypercalcemia resulting from splenic sarcoidosis confirmed on splenic biopsy. Despite commencement of prednisone therapy, her hypercalcemia persisted. IV fluid therapy was complicated by fluid overload from chronic renal disease. Ketoconazole was trialed as second-line therapy with no initial improvement. Our case illustrates the diagnostic and therapeutic challenges associated with asymptomatic hypercalcemia attributed to systemic sarcoidosis on a background of chronic renal impairment. It underscores the importance of considering systemic sarcoidosis as a potential etiology in cases of acute PTH-independent hypercalcemia resistant to initial therapy.

Disorders of sex development are genetically complex, and phenotypes range from hypospadias to completely masculinized or feminized genitalia with a discordant karyotype. They arise as a result of alterations in gonad formation (sex determination stage) or function (sex differentiation stage). Reaching a specific diagnosis with the aid of molecular technologies is important for individualized management, genetic counseling, and prognostic prediction for fertility and risk of tumor development. This case report describes a young adult male who was referred initially with concern for Klinefelter syndrome based on a commercial genetic test. His laboratory investigations revealed hypergonadotropic hypogonadism, azoospermia, and a chromosomal karyotype of 46,XX. He was eventually diagnosed with 46,XX testicular disorder of sex development. He was initiated on testosterone replacement therapy and offered adoption and use of donor sperm for artificial reproduction techniques.

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.

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.

Insulinomas are rare neuroendocrine neoplasms and causes of hypoglycemia. They present with neuroglycopenic symptoms, including confusion and seizures. Suspected diagnosis must be confirmed through bloodwork and imaging. The majority of insulinomas are benign and cured surgically; less than 10% of insulinomas are malignant. Malignant insulinomas present a unique and rare challenge in managing persistent hypoglycemia and tumor burden. We present a case of a young woman who presented with Whipple triad and high-grade masses in her pancreas, liver, and distant lymph node metastases on imaging. Insulinoma was diagnosed. Hypoglycemia was managed with continuous dextrose infusion, diazoxide, and lanreotide. She was discharged on medical management and a continuous glucose monitor. Her metastatic disease is being treated with a capecitabine and temozolomide (CAPTEM) regimen showing 30% reduction in tumor burden. In conjunction with the National Institutes of Health, she is undergoing evaluation with numerous neuroendocrine tumor surgeons for cytoreductive surgery.

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.

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.

A 65-year-old patient presented with recurrent, locally advanced poorly differentiated thyroid cancer despite 2 neck surgeries, and with newly diagnosed brain and skull base metastases. He was treated with palliative stereotactic radiosurgery to the brain and skull base lesions. Thereafter, as no targetable genetic alteration was identified and antiangiogenic multikinase inhibitors were deemed at high risk of hemorrhagic complications, off-label systemic therapies were considered. The mechanistic target of rapamycin (mTOR) inhibitor everolimus could not be obtained due to lack of insurance coverage, so the patient was treated with single-agent pembrolizumab. He showed an initial remarkable response, but unfortunately had disease progression in the neck and upper mediastinum after 1 year of therapy. At that time, he was treated with external beam radiotherapy, with concomitant pembrolizumab. He was then found to have an CTSB::ALK fusion, which has previously been described in 2 cases of thyroid cancer. However, as he showed a positive response to radiation with pembrolizumab, he continued single-agent immune checkpoint inhibition and had a persistent marked response almost a year after completing radiation. The patient was then followed at an outside institution and was transitioned to hospice at time of progression per his preference. He died 4 years after his initial diagnosis.

Tumor-induced osteomalacia is characterized by hypophosphatemia and fragility fractures caused by fibroblast growth factor 23 (FGF23)-producing tumors. We report a case of tumor-induced osteomalacia in which the tumor location could be determined by gallium 68 (⁶⁸Ga)-DOTATOC positron emission tomography (PET)/computed tomography (CT). A 74-year-old woman had recurrent fractures and bone pain. Blood tests showed hypophosphatemia and elevated serum alkaline phosphatase and FGF23 levels and CT and bone scintigraphy showed multiple bone fractures. Tumor-induced osteomalacia was therefore suspected. Indium 111 (¹¹¹In)-pentetreotide scintigraphy showed focus of increased activity in the head, and CT and magnetic resonance images showed a mass-like lesion in the posterior ethmoidal sinus. However, in systemic venous sampling, serum FGF23 level was highest in the left common iliac vein. ⁶⁸Ga-DOTATOC PET/CT clearly demonstrated focal uptake in the left anterior inferior iliac spine consistent with systemic venous sampling. Retrospectively analyzed, focal uptake in the head was considered to be a physiological uptake in the pituitary gland. The tumor was resected and the pathological diagnosis was phosphaturic mesenchymal tumor. A combination of systemic venous sampling and ⁶⁸Ga-DOTATOC PET/CT was useful in detection of a small FGF23-producing tumor. Precise tumor localization in such cases requires careful interpretation of scintigraphy.

Hyperthyroidism in twin pregnancies involving a hydatidiform mole and a coexisting live fetus is a rare condition requiring careful management. We present a 34-year-old pregnant woman at 12 weeks' gestation with severe nausea, vomiting, and mild vaginal bleeding. A transvaginal ultrasound revealed a dichorionic diamniotic twin pregnancy with 1 normal fetus and 1 hydatidiform mole, leading to hyperthyroidism from elevated β human chorionic gonadotropin levels. Conservative management without antithyroid medications, combined with regular monitoring, allowed the pregnancy to continue to term, resulting in the delivery of a healthy baby at 39 weeks. Postpartum management required treatment of retained products of conception. This case highlights the complexities in the management of complications for both mother and fetus.