JCEM case reports最新文献

We present a unique case of primary intraosseous paraganglioma (PGL) originating from maxillary bone. PGL is a neurosecretory neoplasm that arises from cells believed to originate from the neural crest. A 30-year-old woman presented with right facial pain and swelling, along with palpitations. Computed tomography (CT) imaging revealed a 3.3 × 3.1 × 2.3 cm mass in the anterior maxilla, and biochemical results showed elevated plasma dopamine, 3-methoxytyramine, and chromogranin A levels. Biopsy confirmed a PGL, with positive expression of synaptophysin, chromogranin A, and GATA-3. Whole-body positron emission tomography/computed tomography (PET/CT) scans showed avidity on ¹⁸F-fluorodopa (¹⁸F-FDOPA), ⁶⁸Ga-DOTA(0)-Tyr(3)-octreotate ​​ (⁶⁸Ga-DOTATATE), and ¹⁸F-fluorodeoxyglucose (¹⁸F-FDG). No other lesions (primary or metastatic) were found. Proton beam therapy was chosen over surgery due to potential complications and patient's preference. Following radiotherapy, she experienced symptom relief, with dopamine levels decreasing and chromogranin A normalizing, with the lesion remaining stable on 11-month follow-up imaging. This case highlights the rarity of primary bone PGLs and underscores the importance of comprehensive diagnostic approaches combining physical examinations, biochemical testing, functional imaging, and histopathological analysis properly guiding personalized treatment strategies. Additionally, proton beam therapy emerges as a highly suitable treatment option for head and neck paragangliomas (HNPGLs), offering effective tumor control with minimal complications.

Thyroid storm is a life-threatening complication of hyperthyroidism that necessitates early diagnosis for aggressive, effective treatment. We present a patient with a newly diagnosed multinodular goiter who presented to the emergency department with leg swelling, dyspnea, tremors, and atrial fibrillation with elevation in thyroid hormone levels consistent with thyrotoxicosis. Despite improvement in peripheral hormone levels on maximized medical treatment with beta-blockers, methimazole, glucocorticoids, cholestyramine, and potassium iodide, she continued to clinically decline with new encephalopathy, heart failure, and liver and kidney dysfunction while receiving treatment. Work-up for alternative causes of her clinical decompensation was unrevealing. Plasmapheresis was initiated, with further reduction in thyroid hormone levels without clinical improvement. Cases in the literature do report incidences of severe thyrotoxicosis refractory to traditional treatment measures; however, generally, these cases involve a failure to reduce thyroid hormone levels with medical treatment and subsequent consideration of plasmapheresis. Our case suggests that clinical improvement in thyroid storm does lag behind biochemical improvement in select patients, and delayed clinical improvement or even severity of symptoms may warrant earlier consideration of plasmapheresis in such patients.

Transient neonatal diabetes mellitus (TNDM) due to 6q duplication usually presents in the first 4 months of life, resolves before 18 months of life, and recurs in adolescence or adulthood. Insulin is the first-line treatment for chromosome 6-related neonatal diabetes in infancy. While there is no ideal treatment for patients with relapsed TNDM, residual β-cell function after remission of neonatal diabetes indicates a potential role for insulin secretagogues. Patients with 6q24 duplication have been successfully transitioned from insulin to sulfonylureas (SUs) in adolescence. We present the first report to our knowledge of TNDM secondary to a rare 6q23.3 duplication for which reemergence of diabetes was successfully transitioned from insulin to SU treatment. The successful transition to SU improved glycemic control, cost-effectiveness, and overall quality of life, while decreasing occurrence of hypoglycemia.

Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare disorder characterized by the presence of melanocytic nevi, dysplastic cortical bony lesions, and fibroblast growth factor 23 (FGF23)-mediated hypophosphatemic rickets. Herein, we describe the diagnosis of an 8-year-old girl presenting with short stature, reduced lower limb mobility, and abnormal gait due to muscle weakness and constant pain in the legs. Biochemical parameters demonstrated hypophosphatemia, hyperphosphaturia, slight increase in parathyroid hormone (PTH), high levels of alkaline phosphatase, and elevated FGF23. Burosumab improved phosphate-wasting, serum phosphorus, alkaline phosphatase, and PTH, followed by a significant mineralization in vertebral bodies evidenced by radiographic assessment. Our report shows a long-term follow-up of CSHS with a notable improvement promoted by an anti-FGF23 therapy.

A 72-year-old man presented with several months of weakness, poor appetite, and depressed moods. Laboratory tests indicated central hypocortisolism, hypothyroidism and hypogonadism, and mild hyperprolactinemia. Imaging indicated a homogenously enhancing solid suprasellar mass inseparable from the hypothalamus and contiguous with a thickened proximal infundibulum. Neuro-ophthalmological evaluation was normal. Symptoms improved with hydrocortisone, levothyroxine, and testosterone replacement. After 6 months, transsphenoidal biopsy was performed due to mass enlargement and revealed fibrosis, lymphoplasmacytic infiltration, and CD138 and IgG4 staining. The levels of serum IgG4, complement, inflammatory markers, protein electrophoresis, amylase, and lipase and imaging of the chest, abdomen, and thyroid were unremarkable. After 1 month of prednisone therapy (starting dose 40 mg/day), the mass significantly involuted and remained stable afterward. Prednisone was gradually tapered to 5 mg daily over 10 weeks. During 22 months of follow-up, no systemic IgG4 disease was detected. Glucocorticoid, thyroid, and testosterone replacement was continued. This case of isolated IgG4-related hypophysitis illustrates the variable presentation that may not entail vasopressin deficiency or clinical mass effect. This entity should be considered in the differential diagnosis of suprasellar masses even in the absence of IgG4 systemic disease or characteristic serology. Management entails multidisciplinary collaboration and long-term follow-up.

Progestin-associated meningioma is a rare complication of cyproterone acetate (CPA), an anti-androgen commonly prescribed in feminizing hormone therapy regimens for transgender and gender-diverse individuals. A dose-response association has been observed, particularly with longer-term exposure to doses ≥ 50 mg daily; however, the dose below which CPA use is safe remains unclear. We herein report the cases of 2 transgender women using CPA who developed meningioma. Novel aspects of our cases include: (i) the presence of symptomatic giant meningiomas (> 5 cm), including multiple meningiomas in one patient, requiring urgent surgical intervention; (ii) meningioma development with both high-dose, long duration and low-dose, shorter duration CPA; and (iii) the presence of a PIK3CA missense variant in one patient, which may play a role in the pathogenesis of progestin-associated meningioma. Our cases highlight the real-world risk of this likely underreported adverse effect and underscore the importance of clinician vigilance for neurological sequelae. We suggest using the lowest dose of CPA that maintains adequate androgen suppression, with consideration of alternative anti-androgens where appropriate.

Thyrotroph hyperplasia is commonly present but remains largely undiagnosed in primary hypothyroidism. It is easily reversible with thyroid replacement therapy. If imaging is performed prior to biochemical evaluation, then patients may undergo pituitary surgery unnecessarily. We present the case of a 30-year-old man with thyrotroph hyperplasia caused by profound primary hypothyroidism leading to hypopituitarism that resolved after levothyroxine replacement therapy. We will discuss the current literature regarding pituitary hyperplasia in primary hypothyroidism in adults.

Adrenal adenomas are benign tumors of the adrenal cortex that may secrete excess hormones, such as cortisol. They are most commonly discovered during imaging studies for unrelated problems. Lipomatous metaplasia is a rare degenerative change in adrenal adenomas, characterized by the presence of adipose tissue and hematopoietic elements within the tumor. In this report, we present a case of an adrenal adenoma with lipomatous metaplasia in a patient with hypertension, hyperlipidemia, and type II diabetes mellitus. The discovery of this adrenal mass was prompted by an evaluation of the patient's progressive hirsutism. The tumor was found to be secreting cortisol, leading to Cushing syndrome. The patient subsequently underwent surgical resection of the mass after being treated with mifepristone. The histopathological examination confirmed it to be an adrenal cortical neoplasm with lipomatous metaplasia, characterized by uncertain malignant potential. The patient did well postoperatively. Three months after left adrenalectomy, the patient's hirsutism, A1c, and hypertension improved, allowing a reduction in antihypertensives. Her body mass index stabilized, her triglyceride decreased, and her dehydroepiandrosterone sulfate level normalized. She continued to do well at follow-up visits. Overall, this was a rare case of a functioning adrenal adenoma with lipomatous metaplasia, presenting both diagnostic and therapeutic challenges.

Despite tall stature being a characteristic feature of Klinefelter syndrome, occasional cases of short stature have been reported. These cases are often attributed to GH deficiency. This case report details a unique case of a 16-year-old male with Klinefelter syndrome exhibiting proportionate short stature resulting from a heterozygous, likely pathogenic, variant in the ACAN gene c.7141G > A (p.Asp2381Asn). This specific variant, previously identified once in a family with a recessive inheritance pattern is reported here for the first time in an individual with Klinefelter syndrome. This report emphasizes the importance of a thorough evaluation and consideration of genetic testing for an underlying diagnosis in short-statured individuals with Klinefelter syndrome. Timely detection would enable appropriate therapeutic interventions.

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome (CS), presenting diagnostic challenges due to its rarity and its difficult clinical differentiation from other causes of CS. Here, we report the case of a 22-year-old female who developed classical symptoms of hypercortisolism including progressive weight gain, moon facies, and various skin manifestations. Despite biochemical screening confirming ACTH-independent CS, imaging modalities including computed tomography and magnetic resonance imaging showed normal adrenal gland morphology, complicating the localization of cortisol hypersecretion. Subsequent nuclear imaging methods were not indicative of ectopic cortisol production until adrenal vein sampling (AVS) conclusively identified the adrenal glands as the only possible source of cortisol hypersecretion. Eventually, bilateral adrenalectomy led to a significant improvement in symptoms. Pathological examination confirmed the diagnosis of PPNAD, and genetic testing revealed a mutation in the PRKAR1A gene associated with the Carney complex. This case highlights the importance of considering rare etiologies in hypercortisolism diagnosis and describes their challenging diagnostic workup and the utility of AVS in localizing cortisol hypersecretion in PPNAD patients.