JCEM case reports最新文献

We report a case of a 19-year-old male with type 1 diabetes mellitus (T1DM) diagnosed at age 2 years, childhood growth retardation, and multiple admissions for diabetic ketoacidosis, presenting with hepatomegaly and elevated liver transaminase. His hemoglobin A1c (HbA1c) was 13.1% (reference range, < 5.7%). Massive hepatomegaly without splenomegaly was noted and accompanied by significant liver enzyme derangement, and lactatemia. Extensive viral, serologic, genetic, and metabolic tests to identify the etiology of hepatomegaly were unrevealing. A liver biopsy showed microvesicular and macrovesicular steatosis with periportal and lobular inflammation consistent with glycogenic hepatopathy (GH) of Mauriac syndrome. A continuous subcutaneous insulin infusion therapy was initiated and gradually titrated. With an improvement in HbA1c down to 9.2% over 9 months, liver transaminase levels became normalized. The current report includes a thorough evaluation of causes of hepatomegaly in an adult with T1DM and highlights the importance of glycemic control in ameliorating GH.

Cyclic Cushing syndrome (CS) is a rare form of CS characterized by intermittent episodes of hypercortisolism. We report the case of a 30-year-old female who was diagnosed with ACTH-dependent Cushing disease, confirmed by initial biochemical tests and pituitary imaging. Although surgery was planned, she experienced spontaneous remission for several months, followed by pregnancy, and subsequently relapsed in the early postpartum period. Transsphenoidal resection of a left-sided pituitary adenoma was then performed, confirming an ACTH-secreting tumor. A review of the literature revealed that this case contributes to the increasing number of patients with cyclic CS, with particular attention to the challenges of diagnosing hypercortisolism during pregnancy. While cases of Cushing disease recurrence after pituitary surgery in the immediate postpartum period have been documented, this is the first reported case of early postpartum relapse in cyclic CS. This case highlights the importance of long-term follow-up in patients with a high index of suspicion for cyclic CS, as well as the diagnostic challenges in managing the condition during pregnancy and the peripartum period.

Pituicytomas are rare benign sellar tumors that originate in the neurohypophysis. We report the first case of a pituicytoma during pregnancy, causing headaches and bilateral temporal visual field defects. A 32-year-old woman at 16 weeks of gestation was admitted to our hospital for headaches and progressively worsening visual impairment. Cranial magnetic resonance imaging (MRI) revealed a sellar lesion that was resected via a neuroendoscopic endonasal-transsphenoid approach. Pathology revealed a pituicytoma with positive progesterone receptor expression. After cerebrospinal fluid (CSF) leakage repair and anti-infective therapy, the patient recovered well and finally gave birth to a healthy child. This is the first case of pituicytoma during pregnancy reported. Pregnancy may have a contributing effect on the progression of progesterone receptor-positive pituicytomas. Surgical intervention, when performed with appropriate perioperative management, can effectively alleviate mass effects caused by pituicytomas in pregnant women while maintaining the safety of the fetus.

Thyroid-stimulating hormone (TSH; thyrotropin) adenoma is a rare pituitary tumor that can be missed due to its subtle symptoms. We are reporting a 67-year-old man with history of ventricular fibrillation on amiodarone who presented with acute headache and right third cranial nerve palsy. His computed tomography (CT) scan revealed a 2.2-cm suprasellar mass, consistent with pituitary apoplexy, and he underwent pituitary tumor resection. Preoperational hormonal workup revealed TSH 0.25 mIU/mL (0.25 IU/L) (normal reference range: 0.35-4.94 mIU/mL; 0.35-4.94 IU/L), free thyroxine (T4) 3.17 ng/dL (40.80 pmol/L) (normal reference range: 0.7-1.48 ng/dL; 9.78-19.05 pmol/L), and total triiodothyronine (T3) 91 ng/dL (140 nmol/L) (normal reference range: 58-159 ng/dL; 89-244 nmol/L). Initial differential diagnoses included TSH-producing pituitary adenoma (TSH-oma) and amiodarone-induced thyrotoxicosis. His free T4 declined significantly postoperatively, favoring a TSH-oma diagnosis. The pathology report showed a TSH and growth hormone (GH) cosecreting adenoma. Furthermore, he had a normal thyroid uptake scan, as well as negative thyroid antibodies, making primary thyroid diseases less likely. A high free T4 with normal TSH 3 years ago, prior to the start of amiodarone, suggested a long disease duration. This case demonstrates challenges in diagnosing TSH-oma, especially in patients with normal TSH and concurrent amiodarone use.

The frequency and impact of multiple driver mutations have not been extensively explored in papillary thyroid carcinoma (PTC), in which driver mutations are most commonly solitary. We present a case of a 62-year-old female who was found to have a 2.6-cm classical, nonaggressive-appearing PTC. A next-generation sequencing panel assessed the tumor for mutations. Five unique single nucleotide sequence variants, none of which was seen in The Cancer Genome Atlas study on PTC, were found: BRAF D594N, NRAS Q61H, PIK3CA G1007R, PTEN R335*, and PTEN Y225*. We believe that 5 pathogenic variants are the highest reported number for a primary PTC resection specimen to date. The observed typical PTC behavior may be due to a weaker strength of the individual pathogenic variants to drive oncogenic processes. In this case, the high number of genetic alterations did not translate into aggressive histopathology or clinical course.

Lipodystrophies are rare disorders characterized by loss of body fat resulting in leptin deficiency. Patients are predisposed to metabolic complications such as severe insulin resistance, hypertriglyceridemia, and hepatic steatosis. Werner syndrome (WS) is among the progeroid syndromes in the classification of lipodystrophy. In this case report, we describe two siblings. In the first case, lipodystrophy was suspected when the patient presented with acute pancreatitis and hypertriglyceridemia, and a diagnosis of WS was confirmed. Subsequently, genetic screening of the patient's sister, who had early-onset diabetes, also revealed WS.

Radioactive iodine ablation is commonly used to treat thyroid diseases. However, despite its efficacy, it has inherent risks and complications. One such complication is iododerma. This rare dermatological condition triggered by iodine exposure has been infrequently documented in association with radioactive iodine therapy for thyroid diseases. Here, we present 2 cases of iododerma following radioactive iodine ablation for thyroid cancer. In the first case, a 38-year-old female developed facial swelling and red blotchy rashes accompanied by papules on the left upper eyelid. Despite initial worsening of symptoms, the patient improved after prednisone treatment. In the second case, a 71-year-old male with metastatic follicular thyroid cancer received iodine-131 therapy after levothyroxine withdrawal for pulmonary metastasis. Approximately 1 week posttherapy, he developed a nontender, nonpruritic rash on the extremities and anterior abdomen, which spontaneously resolved without intervention. Iododerma presents diagnostic challenges because of its rarity and diverse cutaneous manifestations. Although its exact pathophysiology remains unclear, it has been hypothesized to be induced by hypersensitivity reactions to and delayed clearance of iodine from the body. Physicians should be aware of this rare complication of radioactive iodine in patients with thyroid disease.

Primary biliary cholangitis (PBC) is a chronic cholestatic liver disease characterized by interlobular bile duct inflammation, which causes fibrosis and cirrhosis. Few studies have explored the association of hypoglycemia with PBC. In this case, a 76-year-old Chinese man diagnosed with PBC developed recurrent comatose episodes. The patient had severe hypoglycemia and slight abnormalities in liver function tests. In addition, the patient had positive results in antimitochondrial antibody, anti-mitochondrial antibody-subtype 2, centromeric protein B antibody, and antisoluble acidic nuclear protein 100 antibody levels, which led to the diagnosis of PBC. The patient also experienced fasting hypoglycemic coma, requiring thorough evaluation to identify potential causes. This case suggests that liver-derived hypoglycemia associated with PBC may be more common than autoimmune-related hypoglycemia in this context.

Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by germline pathogenic variants of the VHL gene, which can lead to abnormal growth of blood vessels and cause the development of benign or malignant tumors, as well as cysts in diverse organs. To date, no case reports have documented adrenocorticotropic hormone (ACTH)-secreting adenomas in individuals with VHL disease. We present the case of a 19-year-old female individual with VHL disease who developed an ACTH-secreting adenoma alongside hemangioblastomas in the central nervous system (CNS) and cystic lesions in diverse organ systems. Genetic testing and immunohistochemistry of the pituitary tumor were performed. Genetic testing revealed that the patient carried the familial germline pathogenic variant located in the first exon of the VHL gene (c.227_229del, p.76delF). Immunohistochemical staining of the pituitary tumor demonstrated positive for ACTH, chromogranin A, and synaptophysin, with Ki-67 index at 3%. In addition, tumor cells showed scattered immunoreactivity for the α subunit of hypoxia-inducible factor (HIF-1α). This case suggests that VHL disease might be associated with ACTH-secreting adenomas and broadens the tumor spectrum.

A paraganglioma is a neuroendocrine tumor classically associated with catecholamine production. We describe a 71-year-old woman with an incidentally identified para-aortic mass who later developed hyperglycemia, hypertension, hypokalemia, and leukocytosis. Work-up ultimately revealed significantly elevated adrenocorticotropin (ACTH), cortisol, and metanephrines, and biopsy of the mass suggested paraganglioma cosecretion of both ACTH and catecholamines. Using osilodrostat to decrease her excess cortisol production, she underwent successful surgical paraganglioma resection. Pathology of the mass demonstrated a paraganglioma with ACTH-producing cells, confirming the diagnosis of ectopic Cushing syndrome (CS). Following resection, the patient had resolution of hypertension and hyperglycemia and normalization of the hypothalamic-pituitary-adrenal axis. We describe the work-up and important perioperative and long-term management considerations for patients with hypercortisolism from ectopic CS and catecholamine excess.