JCEM case reports最新文献

Cushing syndrome is a disorder of endogenous hypercortisolism characterized by increased morbidity and mortality; when surgery is not curative or feasible, medical therapies targeting pituitary adrenocorticotropic hormone or adrenal cortisol production are essential. We report a case of early-onset hypocortisolism and sustained remission following a brief osilodrostat therapy in a 70-year-old woman with Cushing disease who had been treated for many years with pasireotide and metyrapone. Ten days after initiating osilodrostat, she developed clinical signs of adrenal insufficiency and a low morning serum cortisol of 2.8 µg/dL (SI: 76 nmol/L) (reference range 7-25 µg/dL [SI: 193-690 nmol/L]); osilodrostat was discontinued, and glucocorticoid replacement was initiated, remaining glucocorticoid-replacement dependent at low doses for 2 months. Over subsequent follow-up of over 20 months, her 24-hour urinary free cortisol normalized, and she maintained persistent biochemical and clinical eucortisolism off all Cushing therapy, with no relapse of hypercortisolism. She also experienced weight loss of 16.5 kg and marked improvement in diabetes control, enabling discontinuation of insulin and glucagon-like peptide-1 (GLP-1) receptor agonist therapy. This is among the earliest documented cases of osilodrostat-induced hypocortisolism with long sustained hormonal remission after treatment discontinuation, emphasizing the need for early monitoring and prolonged follow-up.

Cancer immunotherapies have a class of medications called checkpoint inhibitors that can induce endocrinopathies including hypothyroidism, hypophysitis, and adrenalitis. This case illustrates a 72-year-old woman with recently diagnosed non-small cell lung cancer (NSCLC) who developed immune-mediated hypothyroidism and subsequent type 1 diabetes mellitus (T1DM) presenting as diabetic ketoacidosis (DKA) after 3 months of combination immunotherapy with nivolumab and ipilimumab. After her hospitalization, she was discharged on insulin. Our clinical case not only provides more literature on the risks involved with immunotherapy but also shows a rare outcome with checkpoint inhibitor-induced T1DM.

Immune checkpoint inhibitors (ICIs) have revolutionized treatment for multiple cancers. However, research into the therapeutic potential of ICIs for differentiated thyroid cancer (DTC) is sparse. We present a case of a 55-year-old woman with untreated papillary thyroid cancer who received pembrolizumab as part of treatment for her breast cancer and then developed pembrolizumab-induced destructive thyroiditis, leading to near-complete pathologic resolution of her thyroid cancer. This suggests therapeutic potential to use ICIs in patients with DTCs who are not candidates for standard therapies such as surgical resection, and as an additional agent for patients with advanced metastatic DTC.

Radioiodine (RAI) therapy is considered in differentiated thyroid cancers (DTC) following surgery. While rare, a severe chyle leak (CL) resulting from surgery may require treatment with thoracic duct embolization (TDE) following lymphangiography. These procedures involve the administration of ethiodized oil into the central lymphatics. Herein, we present 2 cases-a 67-year-old man and a 21-year-old woman-diagnosed with papillary thyroid cancer who, following total thyroidectomy and neck dissection, developed a postoperative CL that was treated with TDE. Despite 12 weeks between TDE and evaluation for RAI therapy in both cases, nonradioactive iodine from ethiodized oil resulted in an excess urinary iodine concentration, potentially significant interference of RAI uptake, decreased diagnostic sensitivity, and reduced therapeutic efficacy. The 67-year-old man was evaluated for RAI therapy twice but did not receive treatment, whereas the 21-year-old woman received RAI therapy at initial evaluation despite excess iodine present. Potential interference of ethiodized oil on RAI imaging and therapy should be considered when selecting treatment for a severe CL and when evaluating the utility of RAI therapy after lymphatic interventions involving ethiodized oil.

Although hemoglobin A1c (HbA1c) is widely used to assess long-term glycemia, its reliability declines in conditions that alter red blood cell turnover or hemoglobin glycation. Pancreatic structural diseases, including pancreatic neuroendocrine tumors (pNETs) and intraductal papillary mucinous neoplasms (IPMNs), may further affect glucose regulation through impaired endocrine function. Systemic inflammation and specific hematologic conditions can also create discordant glycemic markers, complicating diagnosis, and management. We report a 59-year-old woman with autoimmune disease who presented with fatigue and fluctuating glucose levels. Her HbA1c remained within normal limits; however, continuous glucose monitoring (CGM) and an oral glucose tolerance test (OGTT) demonstrated marked hyperglycemia. Imaging revealed pancreatic lesions concerning for a pNET in the setting of known IPMNs. Laboratory evaluation was notable for elevated ferritin and clonal hematopoiesis of indeterminate potential (CHIP). Additional studies, including hemoglobin, albumin, renal and hepatic function, and hemoglobin electrophoresis, were normal, ruling out anemia and hemoglobinopathies. Her glycemic discordance likely reflects impaired insulin secretion due to pancreatic pathology combined with inflammation driven alterations in erythrocyte lifespan associated with CHIP. This case underscores the limitations of HbA1c in complex metabolic or inflammatory states and highlights the value of CGM and OGTT when A1c does not align with clinical findings.

Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in men but often remains clinically silent until later life. We describe an elderly man whose evaluation for a rib fracture uncovered the diagnosis. A 76-year-old male presented after a low-impact fracture during a coughing episode. Clinical history revealed delayed sexual maturation, small testes, infertility, and mild gynecomastia. Hormonal testing demonstrated markedly reduced testosterone with elevated luteinizing and follicle-stimulating hormones, suggesting primary testicular failure. Karyotype analysis confirmed 47,XXY. Bone mineral density testing revealed osteopenia, meeting criteria for clinical osteoporosis. He received intravenous zoledronic acid, while androgen therapy was postponed pending urologic assessment. This case emphasizes that KS can remain undetected for decades and highlights the need to consider hypogonadism in men with unexplained bone loss. Early recognition facilitates appropriate treatment and long-term monitoring for associated systemic complications.

Type 1 diabetes (T1D) development progresses through well-defined stages based on the presence of islet autoantibodies such as insulin autoantibody, glutamic acid decarboxylase autoantibody, tyrosine phosphatase-like protein IA-2 autoantibody, and zinc transporter 8 autoantibody and glycemic status. The presence of multiple islet autoantibodies and normal glucose tolerance is considered stage 1 T1D. Progression to abnormal glucose tolerance, as measured by oral glucose tolerance test or hemoglobin A1c, is considered stage 2, and stage 3 T1D is defined by symptomatic hyperglycemia and the need for insulin replacement therapy. Here, we present a case of a 9-year-old male with rapid progression from stage 1 T1D to stage 3 T1D characterized by persistent, symptomatic hypoglycemia, concurrent with abnormal glucose tolerance. This case demonstrates the paradoxical presence of hypoglycemia and impaired glucose tolerance and suggests that hypoglycemia may be a biomarker of imminent and rapid progression to stage 3 T1D.

The incidence of metastatic recurrence in multiple endocrine neoplasia type 2 (MEN2)-related pheochromocytoma is low, and reports are scarce. Moreover, there are no reports detailing changes in biochemical findings at the time of metastatic recurrence. We describe here the case of a woman in her 40s with MEN2-related pheochromocytoma. She exhibited an increase in spot urine normetanephrine levels 2 years and 8 months after laparoscopic right adrenalectomy for right pheochromocytoma, leading to the diagnosis of peritoneal dissemination and distant metastasis. She underwent chemotherapy, which was ineffective, and died 3 years and 2 months after the initial surgery. Metastasis and recurrence of MEN2-related pheochromocytoma are rare, and a change in the biochemical phenotype is also uncommon. Therefore, we report the clinical course of this case in detail.

We present the case of a male patient misdiagnosed with resistant hyperthyroidism who erroneously underwent total thyroidectomy complicated by thyroid tissue regrowth. Subsequent iodine-131 (I-131) radiation therapy and medical management further confounded the misdiagnosis. Serological examination in the following years revealed persistently elevated thyroid stimulating hormone (TSH) levels ranging from 45.7 μIU/mL (SI: 45.7 mIU/L) to 134.0 μIU/mL (SI: 134.0 mIU/L) (reference range, 0.550-5.00 μIU/mL [SI: 0.55-5.00 mIU/L]) with variable free thyroxine (FT4) levels ranging from 0.80 ng/dL to 8.1 ng/dL (SI: 10.3 pmol/L to 104.3 pmol/L) (reference range, 0.90-1.70 ng/dL [SI: 11.5-21.8 pmol/L]). Thyroid hormone resistance syndromes (RTH) are characterized by thyroid hormone resistance in organ tissues. Clinical presentation varies based on the severity of thyroid hormone dysregulation and the location of hormone resistance. RTH is often misdiagnosed due to variable phenotypic and biochemical presentations, resulting in erroneous medical and surgical treatments that further complicate patient management. The purpose of this report is to highlight the complex treatment course of this patient and describe challenges faced when diagnosing and managing RTH.