JCEM case reports最新文献

[This corrects the article DOI: 10.1210/jcemcr/luaf261.].

Mitochondrial diabetes is a rare form of diabetes mellitus caused by mitochondrial DNA (mtDNA) mutations, often presenting with atypical features and maternal inheritance. We report a 71-year-old white female presenting with diabetes diagnosed at age 50, managed with oral therapy, who exhibited significant weight loss and a strong maternal family history of diabetes. Glutamic acid decarboxylase and insulinoma-associated-2 antibodies were negative with normal C-peptide, and genetic testing revealed a heteroplasmic MT-TS1 m.7479G>A variant (13.90%). Glycemic management was achieved with metformin and gliclazide, and at 21 years post diagnosis, the patient maintained stable glycemic control with a glycated hemoglobin A_1c of 6.5% (SI: 48 mmol/mol) (reference range, 4.0%-6.0% [SI 20-42 mmol/mol]) without insulin. The MT-TS1 m.7479G>A variant is implicated as a pathogenic cause of mitochondrial diabetes, highlighting the importance of mtDNA sequencing in atypical cases with maternal inheritance, the potential for milder phenotypes with low-heteroplasmy variants, and the critical role of genetic counseling.

We describe a case of euglycemic diabetic ketoacidosis (EDKA) in a 30-year-old man with no known diabetes on tirzepatide, intermittent fasting (IF), and a low-carbohydrate diet for weight loss. While glucagon-like peptide-1 receptor agonists (GLP-1 RAs) and combined GLP-1/glucose-dependent insulinotropic polypeptide receptor agonists (GLP-1/GIP RAs), like tirzepatide, are effective for weight loss and diabetes management, their unsupervised use, especially alongside ketosis-inducing diets, may lead to serious risks such as EDKA. This report emphasizes the need for medical supervision in weight management, particularly when combining medications such as tirzepatide with dietary interventions, like IF and low-carbohydrate diets.

We report a man in the fifth decade of his life with an invasive giant prolactinoma (size: 7.3 cm; serum prolactin 56820 ng/mL [SI: 2470.4 nmol/L], reference range, 5-25 ng/mL [SI: 0.22-1.09 nmol/L]) who presented with hypogonadism and headache. Dopamine agonist (DA) cabergoline (0.25 mg twice weekly) was initiated, and serum prolactin levels reached 3941 ng/mL (SI: 171.3 nmol/L) after 2 doses. Two weeks later, he developed acute symptoms of headache, vomiting, and drowsiness associated with cerebrospinal fluid rhinorrhea. He presented to the casualty after 48 hours of the onset of these acute symptoms in an altered state. Neuroimaging demonstrated extensive pneumocephalus with pneumoventricle. Cabergoline was discontinued, and an emergency neurosurgical repair was planned. Meanwhile, the patient's sensorium deteriorated, and he succumbed. Our case and review of 7 published cases of DA-induced pneumocephalus highlights male predominance, median tumor size of 5.5 cm (range, 4-9.5 cm), and onset within 1 to 12 weeks of initiation of DA therapy. Hence, for giant prolactinomas after DA initiation, it is essential to recognize the symptom complex associated with this rare life-threatening complication, pneumocephalus, and offer emergency surgical intervention.

Hypoglycemia presents a rare and complex diagnostic challenge, particularly in individuals with a history of upper gastrointestinal procedures such as Nissen fundoplication. Given the overlapping clinical presentations, it is essential to distinguish between insulinoma and noninsulinoma hyperinsulinemic hypoglycemia syndrome. In this report, we outline the case of a 54-year-old man with a history of Nissen fundoplication who presented with recurrent, severe hypoglycemic episodes, often occurring without warning, and significantly impairing his quality of life. Continuous glucose monitoring (CGM) revealed frequent hypoglycemia in both the postprandial and fasting states. Diagnostic evaluation excluded insulinoma but confirmed inappropriate endogenous insulin secretion, consistent with nesidioblastosis. The patient was successfully managed with diazoxide, which significantly reduced the frequency and severity of hypoglycemic events. This case underscores the importance of considering endogenous hyperinsulinemia in postfundoplication patients with unexplained hypoglycemia. It also highlights the utility of CGM and pharmacologic therapy in improving safety, enabling individualized care, and reducing the risk of hypoglycemia unawareness and its associated complications.

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.

[This corrects the article DOI: 10.1210/jcemcr/luaf271.].