JCEM case reports最新文献

Bilateral adrenal hemorrhage is a rare but life-threatening condition that can result in adrenal insufficiency. We present the case of a 63-year-old man who developed bilateral adrenal hemorrhage following a fall from 3 feet height on a ladder. He fell backwards, striking his lower back on the adjacent dry wall and landed on the ground. He was admitted for a traumatic L1 burst fracture and was treated with T11-L3 fusion and T12-L3 laminectomy. Postoperatively, he received prophylactic subcutaneous unfractionated heparin and later developed unexplained tachycardia, pulmonary embolism, and bilateral adrenal masses. He was subsequently readmitted with altered mental status, hypotension, and profound electrolyte abnormalities. Laboratory evaluation revealed undetectable cortisol and elevated adrenocorticotropic hormone (ACTH), consistent with primary adrenal insufficiency. Imaging confirmed hyperdense bilateral adrenal masses. Infectious causes were excluded, and heparin-induced thrombocytopenia was ruled out. The patient was treated with intravenous hydrocortisone, leading to rapid clinical improvement. He was discharged on oral steroid therapy and remains well on follow-up. This case highlights the importance of considering bilateral adrenal hemorrhage in postoperative patients presenting with nonspecific symptoms and hemodynamic instability.

Antithyroid drug (ATD)-induced agranulocytosis is a rare but potentially life-threatening adverse effect. We report the case of a 51-year-old man who developed agranulocytosis after reinitiating treatment with low-dose thiamazole, which was complicated by right buccal cellulitis, leading to thyroid storm. He was diagnosed with Graves disease 4 years earlier and treated with thiamazole; however, he discontinued the treatment on his own after 1 year. Due to the recurrence of Graves disease, 5 mg of thiamazole was reinitiated. Thirty-five days later, thyroid storm occurred, owing to right buccal cellulitis with thiamazole-induced agranulocytosis. Thiamazole can induce agranulocytosis, even at low doses and when reinitiated, regardless of prior tolerance. This case emphasizes that prior tolerance to thiamazole does not preclude the possibility of life-threatening adverse events upon reinitiation, even at minimal doses. Even in the absence of adverse effects during the initial course of ATD therapy, physicians should remain vigilant for ATD-related adverse effects when reinitiating treatment, even at low doses, particularly after a prolonged discontinuation period. Given the severity of agranulocytosis, patient education at the time of prescription is crucial for the early recognition of symptoms, such as fever or sore throat, which may enable timely diagnosis and appropriate intervention.

Disturbances of water and sodium homeostasis may occur after traumatic brain injury. We report a 20-month-old girl who had a disturbance of water balance consisting of arginine vasopressin deficiency (AVP-D), extreme cerebral salt wasting (CSW), and finally permanent AVP-D following severe traumatic head injury. Magnetic resonance imaging of the brain showed transection of the pituitary stalk and the absence of a posterior pituitary bright spot. Her fluid balance disorder was also complicated by ACTH and TSH deficiency. The CSW phase was characterized by severe hyponatremia with dramatic polyuria and natriuresis and required aggressive fluid replacement with hypertonic saline in addition to vasopressin infusion and fludrocortisone. This case highlights the dynamic nature of fluid balance disorders after brain injury, the importance of recognizing the distinctive patterns of plasma and urine parameters in each condition, and the aggressive management required to treat severe cerebral salt wasting.

[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.