JCEM case reports最新文献

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.

Predicting the onset of type 1 diabetes mellitus (T1D) in patients treated with immune checkpoint inhibitors (ICI) remains challenging. ICI-induced T1D (ICI-T1D) is a rare but serious complication that leads to complete insulin depletion. While diabetes-associated autoantibodies, such as glutamic acid decarboxylase antibodies (GADA), are typically absent in non-ICI-related fulminant T1D, they are relatively common in ICI-T1D. However, it is unclear whether these autoantibodies are detectable before the development of ICI-T1D. We present the case of a 61-year-old man with diabetes who had strongly positive GADA and preserved insulin secretion prior to initiating ICI therapy. Following treatment with durvalumab, he developed ICI-T1D, characterized by complete insulin depletion. Notably, the onset of ICI-T1D was precisely tracked on a daily basis, facilitating the timely initiation of insulin therapy and preventing diabetic ketoacidosis. Although the cost-effectiveness of pretreatment GADA screening and intensive monitoring remains a concern, early detection of diabetes-associated autoantibodies and vigilant glucose monitoring after ICI administration may help predict ICI-T1D and enable early therapeutic intervention.

Cushing syndrome due to ectopic adrenocorticotropic hormone (ACTH) secretion (EAS) is rare and may progress rapidly, making treatment very challenging. We report a 27-year-old woman with metastatic neuroendocrine tumor (NET) who presented with sudden onset and rapidly progressing fatigue, muscle weakness, and weight gain. Laboratory findings confirmed severe EAS with new onset hypocalcemia, hypokalemia, and hyperglycemia. The patient was hospitalized and initiated on high-dose osilodrostat. Cortisol levels rapidly decreased in response to osilodrostat. During treatment, she developed glucocorticoid withdrawal symptoms for which hydrocortisone treatment was started. Due to her ineligibility for bilateral adrenalectomy, bilateral adrenal arterial embolization was attempted but ultimately converted to right-only embolization due to hypertensive urgency and difficulty in catheterization. With significant improvement of cortisol levels, her hypocalcemia, hyperglycemia, and hypokalemia resolved. Her osilodrostat dose was gradually lowered during follow-up. Glucocorticoid replacement continued as part of the ongoing block-and-replace regimen.

Cataracts secondary to type 1 or type 2 diabetes are not uncommon in adults; however, they are a rare finding in pediatric patients with type 1 diabetes. A 15-year-old girl presented with progressively worsened bilateral vision for 6 months. Her vision rapidly deteriorated over the previous month, prompting further evaluation that found bilateral cataracts with haziness in all layers and swollen lenses. Labs were done due to the findings and were significant for elevated serum glucose and hemoglobin A1c and mild diabetic ketoacidosis. Further testing confirmed type 1 diabetes. She had bilateral cataract surgery and has had a successful return of 20/20 vision in both eyes. The prevalence of early diabetic cataracts in the pediatric population is rare. Pathophysiology includes a defect in the polyol pathway, combined with oxidative stress, leading to increased fluid retention. Treatment involves cataract surgery and improved glycemic control. Current International Society for Pediatric and Adolescent Diabetes guidelines recommend initial evaluation for cataracts and subsequent surveillance concomitant with diabetic retinopathy monitoring biennially with those with good glycemic control. Given the rapid formation and severity of onset of bilateral cataracts for this patient, we propose continual screening for visual symptoms at each visit and emphasize the importance of ophthalmologic referrals.

3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the HSD3B2 gene (c.779C > T/p.Pro260Leu and c.307 + 1G > A/p.Gly103Asp,fs29X). The disease-causing effect of the novel variants was assessed by genetic and functional studies informing on positive genotype-phenotype correlation. Sex registration was female, and no gender dysphoria has been noted until the present age of 7 years, but psychological assessments have been difficult with a concomitant diagnosis of autism spectrum disorder. Virilization that already progresses prepubertally through peripheral conversion of androgen precursors by 3β-hydroxysteroid dehydrogenase 1 will pose an increasing challenge during puberty.

Hypercalcemia of malignancy (HCM) is the most common cause of hypercalcemia in hospitalized patients. The pathogenesis of HCM is often multifactorial. One of the rare causes of HCM is extra-renal production of 1,25-dihydroxyvitamin D (or calcitriol), which is often seen in patients with lymphoproliferative malignancies. Here we report an interesting case of a 77-year-old female with severe hypercalcemia and renal mass. Initially, she was presumed to have humoral hypercalcemia of malignancy. However, her renal mass turned out to be diffuse large B cell lymphoma upon removal. Her severe hypercalcemia was attributed to a combination of ectopic calcitriol production from the tumor and probable iatrogenic vitamin D intoxication. This case highlights the need to consider multiple concurrent etiologies in patients with severe hypercalcemia.