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  • 机译 丙二醇过量服用单日大剂量维生素D导致的急性肾衰竭(Stossstherapy)
    摘要:Globally, there has been increasing attention paid to vitamin D deficiency and its treatment. Vitamin D stosstherapy with high-dose ergocalciferol in a single day is reemerging as a potential treatment option. We present an as yet unreported complication of acute renal injury due to propylene glycol toxicity in a 7-month infant treated with vitamin D stosstherapy. The product label for the vitamin D used for this patient states it is dissolved in propylene glycol (PG), but the amount is not listed on this or other US ergocalciferol liquid products that contain PG. Caution should be used when considering vitamin D stosstherapy with liquid ergocalciferol products available in the United States.
  • 机译 Met-PET / CT可以预测散发性多腺甲状旁腺功能亢进吗?病例报告及文献复习
    摘要:Background Primary hyperparathyroidism (pHPT) is a common endocrine disorder of the parathyroid glands. In most cases pHPT is caused by single gland disease, but about 10% of patients suffer from sporadic multiglandular disease (MGD). Patients with MGD, especially with ectopic parathyroid adenomas, have an increased risk for persistence/recurrence after surgery. Normally, sporadic MGD cannot be diagnosed preoperatively by parathyroid scintigraphy. We analyzed the potential of positron emission tomography/computed tomography (Met-PET/CT) to predict MGD.
  • 机译 原发性神经内分泌肺癌继发库欣综合征
    摘要:Cushing syndrome (CS) is a disorder characterized by a result of chronic exposure to excessive glucocorticoids. This article describes a case of a 30-year-old female presenting with fatigue, abdominal striae, unintentional weight gain, and lipodystrophy. A rare diagnosis of ectopic adrenocorticotropic-dependent CS was determined and a neuroendocrine lung tumor (NET) was discovered on chest x-ray. After surgical resection, pathology confirmed lung NET that stained positive for adrenocorticotropic hormone (ACTH). The patient's symptoms fully resolved. The authors aim to urge clinicians to maintain a high index of suspicion for ectopic ACTH secretion (EAS) through a multimodal approach when caring for patients with CS.
  • 机译 严重原发性甲状腺功能低下的垂体增生:一例报告并文献复习
    摘要:Pituitary hyperplasia is commonly present but remains largely undiagnosed in primary hypothyroidism. It is easily reversible with thyroid replacement therapy. If imaging is performed prior to biochemical evaluation, then patients may undergo pituitary surgery. We present the case of a 34-year-old female with profound primary hypothyroidism and secondary pituitary hyperplasia that resolved after thyroid hormone supplementation. We will discuss the current literature regarding pituitary hyperplasia in primary hypothyroidism in adults.
  • 机译 糖尿病,极端胰岛素抵抗和下丘脑-垂体朗格汉斯细胞组织细胞增生症
    摘要:Background Langerhans Cell Histiocytosis (LCH) is a rare inflammatory neoplasm characterized by an infiltration of organs by Langerin + (CD207+) and CD1a+ histiocytes. Diabetes insipidus is a frequent manifestation of the disease, while diabetes mellitus is very rare. We report the first case of a 20-year-old man suffering from hypothalamopituitary histiocytosis and diabetes mellitus with serum anti-insulin receptor antibodies.
  • 机译 不育妇女的促卵泡激素(FSH)水平异常升高
    摘要:We report a case of 33-year-old woman with a 4-year primary infertility. A high isolated follicle-stimulating hormone (FSH) level was conflicting with the clinical situation and with other hormonal markers which were in favor of polycystic ovarian syndrome. We followed a strategy used to identify immune complexes involving FSH. The PEG precipitation test revealed that the high FSH level was almost exclusively due to the presence of autoimmune FSH immunoglobulin complex (macro-FSH). The profile obtained by gel filtration chromatography confirmed the presence of an FSH-immunoglobulin complex. Such immunological dysregulation could be explored in cases of unexplained infertility and recurrent IVF failure.
  • 机译 Dapagliflozin继发于结肠恶性肿瘤患者的正常血糖糖尿病酮症酸中毒
    摘要:The use of sodium-glucose cotransporter 2 (SGLT2) inhibitors for the treatment of type 2 diabetes is steadily increasing. SGLT2 inhibitors are associated with weight loss, lowering of blood pressure, and low hypoglycemia risk along with beneficial cardiovascular and renoprotective effects. In view of the increasing use of SGLT2i, physicians must be aware of their adverse effects. Euglycemic diabetic ketoacidosis (euDKA) is a well-recognized adverse effect of SGLT2i. We present here a case of euglycemic diabetic ketoacidosis secondary to dapagliflozin use in a type 2 diabetic patient with colon cancer. To the best of our knowledge, this is first report of SGLT2 inhibitor-associated euDKA in a patient with underlying colon cancer.
  • 机译 与碰撞肿瘤同一患者的髓样甲状腺癌和乳头状甲状腺癌
    摘要:Aim Papillary thyroid carcinoma (PTC) and medullary thyroid carcinoma (MTC) are two different types of thyroid carcinoma with significant different clinical and histological findings. Their coexistence in the same patient is a very rare event which demands different clinical approach.
  • 机译 婴儿高钙血症的罕见病因和潜在致命病因
    摘要:Hypercalcemia is an uncommon finding in children. Hypercalcemia has various etiologies including parathyroid dependent and independent mechanisms. Increased activity of the 1-alpha-hydroxylase enzyme in granulomatous diseases is a well-defined but an extremely rare cause of hypercalcemia in pediatric patients, particularly in infants. We describe the case of an infant who presented with failure to thrive, hepatosplenomegaly, and hypercalcemia who was initially treated with steroids but was later diagnosed with disseminated histoplasmosis in the absence of an underlying immunodeficiency. Extra caution should be used before considering steroids for the treatment of hypercalcemia and, whenever possible, steroids should not be initiated until a definite etiology is identified.
  • 机译 未经治疗的巨人大泌乳素瘤伴慢性脑脊液漏:罕见的并发症。
    摘要:Macroprolactinoma has the potential to cause base of skull erosion and often extends into the sphenoid sinus. Rapid shrinkage of this invasive tumor following dopamine agonist therapy has been postulated to cause unplugging of the eroded area, leading to cerebrospinal fluid leakage. To the best of our knowledge, the occurrence of spontaneous cerebrospinal fluid leak in treatment-naive prolactinomas is very rare, the majority of which involve undiagnosed macroprolactinomas. We describe here a lady presented late with giant macroprolactinoma, complicated by cerebrospinal fluid leakage. This case raised the dilemma in the management pertaining to the role of either pharmacotherapy or surgical intervention, or combination of both. As she strictly refused surgery, she was treated with bromocriptine which was later changed to cabergoline. On follow-up, there was cessation of cerebrospinal fluid leak, marked reduction of serum prolactin level, and imaging evidence of tumor shrinkage. The majority of patients with medically induced cerebrospinal fluid leakage will require surgical procedures to overcome this complication; however, there are isolated cases of leakage resolution on continuing dopamine agonist therapy while awaiting surgery. The use of dopamine agonist does not necessarily cause worsening of cerebrospinal fluid leakage and instead may produce spontaneous resolution as in this case.
  • 机译 CYP24A1基因纯合致病性变异引起的遗传性高钙血症:病例报告和文献复习。
    摘要:Introduction Loss of function mutations of CYP24A1 gene, which is involved in vitamin D catabolism, cause vitamin D-mediated PTH-independent hypercalcemia. The phenotype varies from life-threatening forms in the infancy to milder forms in the adulthood.
  • 机译 老年患者未知嗜铬细胞瘤的高点和低点
    摘要:Pheochromocytomas are rare catecholamine producing neuroendocrine tumors. The incidence of these tumors is estimated to affect 0.8 per 100,000 person-years and is most common in the fourth to fifth decade of life with equal prevalence in men and women. We describe a case of an 84-year-old male who presented with cycling episodes of severe hypertension and hypotension after an elective cardiac catheterization. Workup of the labile blood pressure revealed a large suprarenal mass and free serum metanephrines (MN) 104 nmol/L (reference range 0.0-0.49 nmol/L) and normetanephrines (NMN) of 24 nmol/L (reference range 0.0-0.89 nmol/L), confirming the diagnosis of a pheochromocytoma. The patient's labile blood pressure was a challenge to manage medically and improved only after aggressive hydration and an alpha-adrenergic antagonist. Of note, this is the second eldest patient known to be published to date with a pheochromocytoma.
  • 机译 甲硫咪唑引起的胸腔积液在格雷夫斯病的背景下
    摘要:Methimazole is a thionamide drug that inhibits the synthesis of thyroid hormones by blocking the oxidation of iodine in the thyroid gland. We report a case of methimazole-induced recurrent pleural effusion. A 67-year-old female with recently diagnosed Graves' disease on methimazole 20mg daily was admitted with dyspnea and new onset atrial fibrillation with rapid ventricular rate. Chest X-ray revealed a unilateral right pleural effusion, which was consistent with a transudate on thoracocentesis. She was managed as a case of congestive heart failure and methimazole dose was increased to 30 mg daily. She was readmitted twice with recurrent right pleural effusion. The fluid revealed an exudative process on repeat thoracocentesis. CT scan of the chest with contrast showed mediastinal lymphadenopathy and a diffuse ground glass process involving the right lower lobe suggestive of pneumonitis. Bronchoalveolar lavage showed neutrophil predominant fluid, and cytology and adenosine deaminase were negative. Patient also had an endobronchial ultrasound guided biopsy of the lymph nodes (EBUS). She was treated empirically with steroids 40 mg for 10 days and the methimazole was also discontinued. The antinuclear antibodies (ANA) came back positive with a speckled pattern; antineutrophil cytoplasmic antibody (c-ANCA) and antimyeloperoxidase were also positive. The effusion resolved but recurred on rechallenge with methimazole. She was referred for urgent thyroidectomy. The patient's repeat chest X-ray showed complete resolution of the pleural effusion after stopping the methimazole. Few weeks later, repeat ANCA and antimyeloperoxidase antibody were both negative. Our case report highlights the importance of the recognition of a rare side effect of methimazole. Timely diagnosis would ensure that appropriate treatment is given.
  • 机译 每周一次静脉和口服左甲状腺素治疗,治疗依从性差导致的难治性甲状腺功能减退一例
    摘要:Refractory hypothyroidism is caused by decreased gut absorption, increased metabolism, and poor compliance. Previous studies suggested that the weekly oral, suppository, or intramuscular administration of levothyroxine (LT4) is an effective treatment for refractory hypothyroidism. However, limited information is currently available on treatment involving the weekly intravenous administration of LT4. We managed a case of refractory hypothyroidism due to poor compliance, for which, by weekly intravenous LT4 administration, LT4 was intravenously administered weekly at a dose of 300 μg without any adverse effects such as acute ischemic heart diseases or liver dysfunction and effectively maintained the euthyroid status for 14 months. The weekly oral administration of LT4 (700 μg) was also safely performed and was as effective as its intravenous administration. We herein present precise clinical course of the present case including pharmacokinetic data during the weekly intravenous and oral administration of LT4 and discuss the safety and efficacy of the treatments.
  • 机译 局部糖皮质激素治疗引起的急性高血糖
    摘要:We present the case of a 71-year-old man with longstanding, previously well-controlled type 1 diabetes who developed acute hyperglycemia. His insulin requirements, via his insulin pump, increased to nearly five times his typical daily dose. The patient was admitted for evaluation and treatment and started on an insulin infusion. He had minimal insulin requirements with the insulin infusion. History revealed recent use of a super potent topical corticosteroid for a psoriasis flare. The patient was transitioned back to his insulin pump, using his prior to admission settings. He was advised to discontinue using his topical corticosteroid. He had no further hyperglycemic episodes. The clinical presentation is suggestive of corticosteroid-induced hyperglycemia, suggesting that clinically significant changes can occur even with short duration use, particularly with high potency steroids used. This is to our knowledge the first case reported in which the patient required a very significant amount of extra insulin (nearly five times his typical total daily dose) after using high potency topical steroid cream. This case highlights the potentially detrimental effect of topical corticosteroid use in patients with diabetes.
  • 机译 在没有胰腺炎证据的49岁女性中甘油三酸酯水平超过10,000 mg / dL
    摘要:We present a rare case of a 49-year-old female with very severe hypertriglyceridemia (HTG) having a total triglyceride (TG) count of > 10,000 mg/dL in the absence of pancreatitis. Based on literature review, this is one of the highest recorded TG counts in an adult without evidence of pancreatitis. HTG is a common occurrence in clinical practice, but rarely do numbers exceed 2000 mg/dl. It is crucial to evaluate and rapidly lower TG levels to prevent potentially life-threatening complications such as severe pancreatitis. Removal of potential predisposing medications, control of underlying diseases known to cause HTG, and maintenance therapies are essential to prevent reoccurrence.
  • 机译 诊断神经内分泌肿瘤后5年出现异位ACTH综合征
    摘要:Ectopic ACTH syndrome (EAS) arising years after the diagnosis of a neuroendocrine tumor (NET) is exceedingly rare. We describe a case of EAS occurring five years after the diagnosis of a metastatic lung NET in a 61-year-old woman. She presented with severe hypokalemia but was not overtly Cushingoid on exam. Serum cortisol was 61mcg/dL after an overnight 1mg dexamethasone suppression test (<1.8mcg/dL) and urinary free cortisol was 7544 mcg/24h (<45mcg/24h), establishing the diagnosis of Cushing's syndrome. Plasma levels of peptides which have been associated with EAS, Agouti-related peptide (AgRP) and the ACTH precursors POMC (31-kDa) and pro-ACTH (22-kDa), were elevated. Metyrapone was initiated, but hypercortisolism persisted and the patient succumbed to pneumonia shortly after presentation. Retrospective examination of biopsy tissues showed rare ACTH immunoreactivity at the time of initial diagnosis, followed by staining in a greater proportion of cells as the disease progressed, consistent with EAS arising years after the diagnosis of NET. Given the increase in mortality associated with EAS, this unusual case highlights the importance of early detection and raises the possibility that early immunohistochemical stains for ACTH and measurements of ACTH precursors may facilitate the identification of NETs at high risk for EAS.
  • 机译 特纳综合征患者胰岛素瘤的生化和临床特征
    摘要:Turner syndrome (TS), i.e., mosaic or nonmosaic states with only one normal X chromosome in females, is characterized by a wide spectrum of somatic, hormonal, and metabolic features. Here we report an unusual case of recurrent hypoglycemia in a 53-year-old woman with TS. Biochemical work-up following a 72h fast revealed detectable, inappropriate for low glucose insulin levels and elevated proinsulin and beta-hydroxybutyrate (BOHB) levels. MR and multiphase CT showed a solid 2.5 cm pancreatic tail mass with absent uptake in the 111In-pentetreotide (Octreoscan) scan. Subsequent hepatic vein blood sampling after intra-arterial calcium stimulation showed sharp increase in insulin and modest increase in proinsulin levels. The patient underwent excision of the mass with resolution of symptoms. Histopathologic examination confirmed the neuroendocrine etiology of the tumor. This is, to our knowledge, the third report of TS and concomitant insulinoma. Impaired counterregulatory response to hypoglycemia in patients with TS may result in symptomatic hypoglycemia with only mild insulin elevation and elevated proinsulin in setting of hypoglycemia may be the only indication of insulinoma in these patients. BOHB levels should not be used for ruling out EHH in patients with TS.
  • 机译 Lenvatinib经鼻胃管给药治疗分化差的甲状腺癌
    摘要:Background The tyrosine kinase inhibitors (TKIs) are indicated for the treatment of locally advanced or metastatic progressive thyroid carcinoma (CDT), refractory to radioactive iodine. The following report describes the efficacy of lenvatinib administered through a nose-gastric tube (SNG) in a patient affected with a poorly differentiated thyroid carcinoma (PDTC) which determined a stenosis of the esophagus.
  • 机译 HDR综合征伴1型糖尿病和垂体功能减退
    摘要:HDR (Hypoparathyroidism, Deafness, and Renal Dysplasia) syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. Approximately 65% of patients with HDR syndrome have all three of these features, while others have different combinations of these features. We aimed to present a case with primary hypoparathyroidism, hearing loss, and nondiabetic chronic kidney disease and diagnosed as HDR syndrome while being followed up for type 1 diabetes mellitus and hypopituitarism.

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