JCEM case reports最新文献

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by the overproduction of fibroblast growth factor 23 (FGF23) from phosphaturic mesenchymal tumors (PMTs). Clinical features include skeletal deformities, bone mineral density (BMD) loss, and debilitating myopathy. Hypophosphatemia and low 1,25(OH)₂D levels are hallmark biochemical findings. We report a 46-year-old man with delayed tumor localization who received preoperative burosumab. Postoperatively, he developed transient mild hypocalcemia, persistently elevated alkaline phosphatase and parathyroid hormone, and prolonged FGF23 elevation for 6 months despite normalized serum phosphate and improved BMD. Burosumab can interfere with FGF23 assays and may cause extremely high in vivo FGF23 values for months. Alternative biochemical markers should be pursued postoperatively in patients who received burosumab before surgery. A high bone turnover state resembling hungry bone syndrome may occur after PMT resection. Awareness of these postoperative biochemical changes and the effects of burosumab on FGF23 assays is essential for monitoring TIO recovery.

Severe vitamin B12 deficiency can clinically mimic Addison disease, with hyperpigmentation despite preserved adrenal function. We report a 34-year-old woman presenting with fatigue, an unintended weight loss of about 20 kg, and mucocutaneous hyperpigmentation raising concern for primary adrenal insufficiency. Examination showed pallor, mild scleral icterus, and elevated blood pressure. Laboratory testing demonstrated severe cobalamin deficiency with macrocytic anemia and biochemical evidence of intramedullary hemolysis, whereas morning cortisol and ACTH levels excluded adrenal failure. Intrinsic factor antibodies confirmed pernicious anemia. Notably, cancer antigen 15-3 was elevated at presentation but normalized after intramuscular vitamin B12 replacement, indicating a benign hematologic rather than oncologic etiology. Treatment triggered an appropriate reticulocyte response with subsequent hematologic recovery and gradual resolution of the hyperpigmentation. Pernicious anemia should be considered in the differential diagnosis of Addison-like pigmentation without adrenal insufficiency. Recognizing that tumor marker elevation may occur in severe megaloblastic anemia is essential to prevent unnecessary oncologic workup.

Pseudopheochromocytoma is a disorder characterized by paroxysmal hypertension and variably elevated catecholamine metabolite levels. Pseudopheochromocytoma clinically mimics pheochromocytoma but differs in etiology. While pheochromocytoma is a catecholamine-secreting neuroendocrine tumor, pseudopheochromocytoma is a syndrome linked to a history of emotional stressors and is believed to stem from autonomic nervous system dysregulation. We present the case of a 70-year-old female patient experiencing episodic hypertensive crises for 3 decades. The patient was referred to endocrine oncology for evaluation of a possible pheochromocytoma due to her long-standing history of symptomatic hypertension and elevated catecholamine metabolites. Anatomic and functional imaging, including computed tomography scans of the abdomen and pelvis and a ⁶⁴Copper-1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic acid-octreotate positron emission tomography computed tomography excluded a diagnosis of pheochromocytoma or paraganglioma. Her history of significant emotional stressors raised the possibility of pseudopheochromocytoma. Following initiation of escitalopram and psychotherapy, the patient experienced a remarkable improvement in the frequency and severity of hypertensive episodes. This case illustrates the diagnostic challenges of pseudopheochromocytoma and the importance of early intervention in preventing complications.

Diabetic striatopathy (DS) is a rare neurometabolic complication of poorly controlled diabetes, typically presenting as hemichorea-hemiballismus. It is most often associated with long-standing diabetes but can rarely occur in steroid-induced diabetes. We report the case of a 59-year-old woman with chronic kidney disease and hypertension who developed new-onset diabetes mellitus and right-sided hemichorea following corticosteroid therapy for nonproliferative glomerulopathy. Magnetic resonance imaging (MRI) confirmed DS with hyperintensity in the left lentiform nucleus. Despite initially requiring insulin, her diabetes resolved entirely following glucocorticoid withdrawal. Choreiform movements improved significantly with glycemic control and neuroleptics; however, residual hemichorea persisted. Follow-up MRI revealed gliotic changes in the striatum. This case highlights the importance of recognizing DS as a possible complication of steroid-induced diabetes. Timely identification and glycemic control can reverse both metabolic and neurological complications, although residual deficits may persist.

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Hypophosphatasia is a rare metabolic bone disorder that is often misdiagnosed. We present the case of a middle-aged woman initially misdiagnosed with rickets and later as osteogenesis imperfecta and treated with zoledronate, after which she developed atypical femoral fractures. After switching to teriparatide therapy, her bone mineral density improved significantly. This case underscores that persistently low alkaline phosphatase with fragility or atypical fractures should prompt evaluation for hypophosphatasia and that antiresorptives (eg, bisphosphonates) may precipitate atypical fractures in this condition and should be avoided. Disease-specific therapy is enzyme replacement with asfotase alfa; anabolic therapy may improve bone mineral density in selected adults when asfotase alfa is unavailable.

We report a case of primary bilateral macronodular adrenal hyperplasia (PBMAH) in a 63-year-old man with a novel germline armadillo repeat-containing protein 5 (ARMC5) variant of uncertain significance (c.2525T > C; p.Phe842Ser). Imaging and clinical findings revealed markedly enlarged bilateral adrenal glands and features of mild Cushing syndrome (CS). Clinical suspicion and recommendations from guidelines prompted genetic testing. Initial management focused on controlling comorbidities and monitoring hypercortisolism. Aberrant receptor testing was negative. Progression to overt CS prompted a nor-cholesterol scintigraphy scan, revealing higher uptake in the right adrenal gland. Right adrenalectomy was performed. Concurrent findings of hypogonadotropic hypogonadism and hyperprolactinemia led to the diagnosis of a pituitary microprolactinoma on magnetic resonance imaging. To our knowledge, this is the second reported case of PBMAH associated with a pituitary adenoma in the context of an ARMC5 variant.

Myxedema is increasingly rare in the United Kingdom, particularly among patients already on treatment. We present a case of a 13-year-old girl diagnosed with autoimmune hypothyroidism who was started on 75 µg of levothyroxine by her general practitioner. She was referred to the endocrine clinic after 6 months of treatment for hypothyroidism with 2 months of worsening fatigue, chest pain, peripheral edema, and dyspnea. On hospitalization, the patient's laboratory tests revealed undetectable free thyroxine level (fT4) and elevated thyrotropin (TSH) greater than 500 μIU/mL (SI: >500 m mIU/L) (reference range, 0.51-4.30 μIU/mL [SI: 0.51-4.30 mIU/L]). She was diagnosed with thyroid myxedema and commenced intravenous (IV) hydrocortisone, IV maintenance fluids, and antibiotics. However, the constellation of signs and symptoms remained perplexing. Further tests revealed a large pericardial effusion, deep vein thrombosis, and nephritis. A multidisciplinary approach confirmed the diagnosis of systemic lupus erythematous (SLE), and the patient was successfully started on rituximab therapy within 5 days of admission. This case illustrates the importance of considering potential underlying diagnoses when assessing patients with hypothyroid crisis, especially when symptoms deviate from the typical clinical presentation. The timely recognition and management of this patient's underlying SLE were crucial in her recovery.

The widespread use of imaging studies has led to an increased detection rate of adrenal incidentalomas. Among adrenal incidentalomas, mild autonomous cortisol secretion (MACS) is a common etiology. Development of overt Cushing syndrome (CS) from MACS is a rare event with an estimated prevalence of <1%. Herein, we report a case of cortisol-producing adenoma that demonstrated clinical and biochemical progression, resulting in the development of overt CS. A 50-year-old Japanese woman was referred for the evaluation of CS because of elevated blood pressure and peripheral edema. She had been followed for her left adrenal tumor and MACS before but was lost to follow-up for 2 years and 9 months. At presentation, she had cushingoid features. The 1-mg overnight dexamethasone suppression test indicated greater severity of autonomous cortisol secretion than that in the initial assessment. Imaging studies revealed that her left adrenal tumor increased in size. She underwent laparoscopic left adrenalectomy. Histologic and immunohistochemical examinations confirmed a cortisol-producing adenoma. Sequencing analysis identified a somatic GNAS variant (p.Arg201Cys) in the tumor. Patients with MACS can demonstrate clinical and biochemical progression over time. Considering the high prevalence of MACS, predictive tools such as biomarkers to identify these cases are highly desired.