摘要
Background@#Low-density lipoprotein cholesterol is an important marker highly associated with cardiovascular disease. Since the direct measurement of it is inefficient in terms of cost and time, it is common to estimate through the Friedewald equation developed about 50 years ago. However, various limitations exist since the Friedewald equation was not designed for Koreans. This study proposes a new low-density lipoprotein cholesterol estimation equation for South Koreans using nationally approved statistical data. @*Methods@#This study used data from the Korean National Health and Nutrition Examination Survey from 2009 to 2019. The 18,837 subjects were used to develop the equation for estimating low-density lipoprotein cholesterol. The subjects included individuals with low-density lipoprotein cholesterol levels directly measured among those with high-density lipoprotein cholesterol, triglycerides, and total cholesterol measured. We compared twelve equations developed in the previous studies and the newly proposed equation (model 1) developed in this study with the actual low-density lipoprotein cholesterol value in various ways. @*Results@#The low-density lipoprotein cholesterol value estimated using the estimation formula and the actual low-density lipoprotein cholesterol value were compared using the root mean squared error. When the triglyceride level was less than 400 mg/dL, the root mean squared of the model 1 was 7.96, the lowest compared to other equations, and the model 2 was 7.82. The degree of misclassification was checked according to the NECP ATP III 6 categories. As a result, the misclassification rate of the model 1 was the lowest at 18.9%, and Weighted Kappa was the highest at 0.919 (0.003), which means it significantly reduced the underestimation rate shown in other existing estimation equations. Root mean square error was also compared according to the change in triglycerides level. As the triglycerides level increased, the root mean square error showed an increasing trend in all equations, but it was confirmed that the model 1 was the lowest compared to other equations. @*Conclusion@#The newly proposed low-density lipoprotein cholesterol estimation equation showed significantly improved performance compared to the 12 existing estimation equations. The use of representative samples and external verification is required for more sophisticated estimates in the future.
摘要
Although some clinical trials have demonstrated reduced incidence of cardiovascular disease with the use of omega-3 fatty acids, others have found an increased risk of atrial fibrillation (AF). AF is the most common sustained cardiac arrhythmia worldwide. It is associated with high morbidity and mortality rates and significant public health burden. Previous studies of the effect of omega-3 fatty acids on AF occurrence have reported contradictory results. Here we reviewed the effect of omega-3 fatty acids on the risk of AF.
摘要
Objective@#This study evaluated whether the hepatic steatosis index (HSI) at antineutrophil cytoplasmic antibody-associated vasculitis (AAV) diagnosis could forecast poor outcomes during the disease course in AAV patients. @*Methods@#This study included 260 AAV patients. The equation for HSI is as follows: HSI=8×(alanine aminotransferase/aspartate aminotransferase)+body mass index+(2, diabetes mellitus)+(2, female). The cut-off of HSI was obtained using the receiver operating characteristic curve. @*Results@#The median age of the 260 patients was 59.5 years, and 65.0% were female. Among the continuous variables excluding the parameters composing the equation for HSI, HSI was significantly correlated with Birmingham vasculitis activity score, fivefactor score, haemoglobin, blood urea nitrogen, serum creatinine, and total cholesterol. Among poor outcomes, the area under the curve of HSI for end-stage renal disease (ESRD) was significant, and the cut-off of HSI for ESRD was set at ≤30.82. AAV patients with HSI ≤30.82 exhibited a significantly higher risk of ESRD (relative risk 3.489) and a significantly lower cumulative ESRD-free survival rate than those with HSI >30.82. @*Conclusion@#This study is the first to demonstrate that HSI at AAV diagnosis could forecast ESRD during the disease course in AAV patients.
摘要
Background@#Recently, a metabolic syndrome severity score (MS score) using a dataset of the Korea National Health and Nutrition Examination Surveys has been developed. We aimed to determine whether the newly developed score is a significant predictor of cardiovascular (CV) events among the Korean population. @*Methods@#From the Korean National Health Insurance System, 2,541,364 (aged 40 to 59 years) subjects with no history of CV events (ischemic stroke or myocardial infarction [MI]), who underwent health examinations from 2009 to 2011 and were followed up until 2014 to 2017, were identified. Cox proportional hazard model was employed to investigate the association between MS score and CV events. Model performance of MS score for predicting CV events was compared to that of conventional metabolic syndrome diagnostic criteria (Adult Treatment Program III [ATP-III]) using the Akaike information criterion and the area under the receiver operating characteristic curve. @*Results@#Over a median follow-up of 6 years, 15,762 cases of CV events were reported. MS score at baseline showed a linear association with incident CV events. In the multivariable-adjusted model, the hazard ratios (95% confidence intervals) comparing the highest versus lowest quartiles of MS score were 1.48 (1.36 to 1.60) for MI and 1.89 (1.74 to 2.05) for stroke. Model fitness and performance of the MS score in predicting CV events were superior to those of ATP-III. @*Conclusion@#The newly developed age- and sex-specific continuous MS score for the Korean population is an independent predictor of ischemic stroke and MI in Korean middle-aged adults even after adjusting for confounding factors.
摘要
Background@#Recently, a metabolic syndrome severity score (MS score) using a dataset of the Korea National Health and Nutrition Examination Surveys has been developed. We aimed to determine whether the newly developed score is a significant predictor of cardiovascular (CV) events among the Korean population. @*Methods@#From the Korean National Health Insurance System, 2,541,364 (aged 40 to 59 years) subjects with no history of CV events (ischemic stroke or myocardial infarction [MI]), who underwent health examinations from 2009 to 2011 and were followed up until 2014 to 2017, were identified. Cox proportional hazard model was employed to investigate the association between MS score and CV events. Model performance of MS score for predicting CV events was compared to that of conventional metabolic syndrome diagnostic criteria (Adult Treatment Program III [ATP-III]) using the Akaike information criterion and the area under the receiver operating characteristic curve. @*Results@#Over a median follow-up of 6 years, 15,762 cases of CV events were reported. MS score at baseline showed a linear association with incident CV events. In the multivariable-adjusted model, the hazard ratios (95% confidence intervals) comparing the highest versus lowest quartiles of MS score were 1.48 (1.36 to 1.60) for MI and 1.89 (1.74 to 2.05) for stroke. Model fitness and performance of the MS score in predicting CV events were superior to those of ATP-III. @*Conclusion@#The newly developed age- and sex-specific continuous MS score for the Korean population is an independent predictor of ischemic stroke and MI in Korean middle-aged adults even after adjusting for confounding factors.
摘要
BACKGROUND: The aim of this study was to determine whether there is a positive correlation between gamma-glutamyltransferase (GGT) levels and the prevalence of metabolic syndrome and whether GGT can be used as an easily checkable metabolic index using data from the large-scale Korean Genome and Epidemiology Study (KoGES).METHODS: We obtained data of 211,725 participants of the KoGES. The collected data included age, sex, height, weight, waist circumference, and various biochemical characteristics, including serum GGT levels. The data of study participants who ingested more than 40 g/day of alcohol and who were diagnosed with metabolic syndrome at baseline was excluded. We analyzed the prevalence of metabolic syndrome according to GGT quartiles in both genders.RESULTS: The GGT level was significantly higher in subjects with metabolic syndrome compared to normal subjects (37.92±48.20 mg/dL vs. 25.62±33.56 mg/dL). The prevalence of metabolic syndrome showed a stepwise increase with GGT quartiles in both male and female subjects. Compared to the lowest GGT quartile, the odds ratio was 1.534 (95% confidence interval [CI], 1.432 to 1.643), 1.939 (95% CI, 1.811 to 2.076), and 2.754 (95% CI, 2.572 to 2.948) in men and 1.155 (95% CI, 1.094 to 1.218), 1.528 (95% CI, 1.451 to 1.609), and 2.022 (95% CI, 1.921 to 2.218) in women with increasing GGT quartile. The cutoff value of GGT predicting risk of metabolic syndrome was 27 IU/L in men and 17 IU/L in women.CONCLUSION: We suggested that GGT could be an easily checkable marker for the prediction of metabolic syndrome.
Subject(s)
Female , Humans , Male , Epidemiology , gamma-Glutamyltransferase , Genome , Odds Ratio , Prevalence , Waist Circumference摘要
BACKGROUND: Metabolic syndrome (MetS) is a known predictor of diabetes mellitus (DM), but whether longitudinal changes in MetS status modify the risk for DM remains unclear. We investigated whether changes in MetS status over 2 years modify the 10-year risk of incident DM. METHODS: We analyzed data from 7,317 participants aged 40 to 70 years without DM at baseline, who took part in 2001 to 2011 Korean Genome Epidemiology Study. Subjects were categorized into four groups based on repeated longitudinal assessment of MetS status over 2 years: non-MetS, resolved MetS, incident MetS, and persistent MetS. The hazard ratio (HR) of new-onset DM during 10 years was calculated in each group using Cox models. RESULTS: During the 10-year follow-up, 1,099 participants (15.0%) developed DM. Compared to the non-MetS group, the fully adjusted HRs for new-onset DM were 1.28 (95% confidence interval [CI], 0.92 to 1.79) in the resolved MetS group, 1.75 (95% CI, 1.30 to 2.37) in the incident MetS group, and 1.98 (95% CI, 1.50 to 2.61) in the persistent MetS group (P for trend <0.001). The risk of DM in subjects with resolved MetS was significantly attenuated compared to those with persistent MetS over 2 years. In addition, the adjusted HR for 10-year developing DM gradually increased as the number of MetS components increased 2 years later. CONCLUSION: We found that discrete longitudinal changes pattern in MetS status over 2 years associated with 10-year risk of DM. These findings suggest that monitoring change of MetS status and controlling it in individuals may be important for risk prediction of DM.
Subject(s)
Diabetes Mellitus , Epidemiology , Follow-Up Studies , Genome , Life Style , Proportional Hazards Models摘要
BACKGROUND: Continuous metabolic syndrome (MS) severity scores that can track metabolic risk in individuals over time have been developed for Western populations. The present study aimed to develop gender- and age-specific equations for MS severity scores in Korean adults. METHODS: Using data from the Korea National Health and Nutrition Examination Surveys (KNHANES) IV (2010–2012) and VI (2013–2015), we performed a confirmatory factor analysis of single MS factor that allowed for differential loadings across groups to generate gender- and age-specific, continuous MS severity scores. Then, we validated this equation in a different dataset of Korean adults. RESULTS: In confirmatory analysis, waist circumference had the highest factor loading, indicating that waist circumference had the strongest correlation with MS among Korean adults. Lower factor loadings (< 0.4) among Korean adults aged 40–59 years were noted for systolic blood pressure and fasting glucose. MS severity score values were significantly correlated with metabolic parameters, including high-sensitivity C-reactive-protein, glycated hemoglobin, and homeostasis model assessment of insulin resistance. Furthermore, MS severity scores well predicted traditional MS according to receiver operating characteristic analysis in a validation dataset (KNHANES VII). In a longitudinal cohort dataset, participants diagnosed with Adult Treatment Program III (ATP-III) MS after an initial assessment had progressively higher baseline MS severity scores in relationship to their time until ATP-III MS diagnosis. CONCLUSION: The new MS severity score equations for Korean adults proposed in this study provide a clinically-accessible continuous measure of MS for potential use in identifying adults at higher risk for MS-related diseases and following changes within individuals over time.
Subject(s)
Adult , Humans , Blood Pressure , Cohort Studies , Dataset , Diagnosis , Epidemiology , Fasting , Glucose , Glycated Hemoglobin , Homeostasis , Insulin Resistance , Korea , Nutrition Surveys , Obesity , ROC Curve , Waist Circumference摘要
BACKGROUND: The aim of this study was to investigate which glycemic parameters better reflect urinary N-acetyl-β-D-glucosaminidase (uNAG) abnormality, a marker for renal tubulopathy, in subjects with type 2 diabetes mellitus (T2DM) subjects with normoalbuminuria and a normal estimated glomerular filtration rate (eGFR). METHODS: We classified 1,061 participants with T2DM into two groups according to uNAG level—normal vs. high (>5.8 U/g creatinine)—and measured their biochemical parameters. RESULTS: Subjects with high uNAG level had significantly higher levels of fasting and stimulated glucose, glycated albumin (GA), and glycosylated hemoglobin (HbA1c) and lower levels of homeostasis model assessment of β-cell compared with subjects with normal uNAG level. Multiple linear regression analyses showed that uNAG was significantly associated with GA (standardized β coefficient [β]=0.213, P=0.016), but not with HbA1c (β=−0.137, P=0.096) or stimulated glucose (β=0.095, P=0.140) after adjusting confounding factors. In receiver operating characteristic analysis, the value of the area under the curve (AUC) for renal tubular injury of GA was significantly higher (AUC=0.634; 95% confidence interval [CI], 0.646 to 0.899) than those for HbA1c (AUC=0.598; 95% CI, 0.553 to 0.640), stimulated glucose (AUC=0.594; 95% CI, 0.552 to 0.636), or fasting glucose (AUC=0.558; 95% CI, 0.515 to 0.600). The optimal GA cutoff point for renal tubular damage was 17.55% (sensitivity 59%, specificity 62%). CONCLUSION: GA is a more useful glycation index than HbA1c for reflecting renal tubulopathy in subjects with T2DM with normoalbuminuria and normal eGFR.
Subject(s)
Diabetes Mellitus, Type 2 , Diabetic Nephropathies , Fasting , Glomerular Filtration Rate , Glucose , Glycated Hemoglobin , Homeostasis , Kidney Tubules , Linear Models , ROC Curve , Sensitivity and Specificity摘要
PURPOSE: Fibroblast growth factor 21 (FGF21) is a crucial metabolic regulator, with multiple favorable effects on glucose homeostasis and lipid metabolism. Since serum FGF21 level has been implicated as a potential marker for the early identification of metabolic syndrome (MetS), we investigated the association between serum FGF21 level and the development of MetS in a population-based prospective study. MATERIALS AND METHODS: We conducted a prospective study of 221 randomly sampled adults without MetS from a general population-based cohort study who were examined from 2005–2008 (baseline) and from 2008–2011 (follow-up). Baseline serum FGF21 levels were analyzed using enzyme-linked immunosorbent assay. RESULTS: During the average 2.8-year follow-up period, 82 participants (36.6%) developed new-onset MetS. Serum FGF21 levels were significantly higher in patients with new-onset MetS than in those without MetS (209.56±226.80 vs. 110.09±81.10, p < 0.01). In multivariate adjusted models, the odds for MetS development were greater in patients with serum FGF21 levels in the highest quartile, compared to those in the lowest quartile (3.84, 95% confidence interval: 1.59–9.28). CONCLUSION: Serum FGF21 level was an independent predictor for new-onset MetS in a population-based prospective study.
Subject(s)
Female , Humans , Male , Middle Aged , Biomarkers/blood , Fibroblast Growth Factors/blood , Metabolic Syndrome/blood , Multivariate Analysis , Odds Ratio , Prospective Studies摘要
PURPOSE: Although γ-glutamyltransferase (GGT) is well known to be associated with metabolic syndrome (MS), prospective data on baseline and longitudinal changes in GGT levels and incident cases of MS are limited. We aimed to examine prospective associations between changes in GGT levels over time, as well as at baseline, and incident MS in Korean adults. MATERIALS AND METHODS: A total of 2579 Korean adults free of MS were followed up for 2.6 years. Data were collected from 2005–2008 (baseline) and from 2008–2011 (follow-up). Serum GGT levels were determined by enzymatic methods. RESULTS: During follow-up, 558 participants (21.6%) developed MS. A gradual increase in the incidence of MS was observed across GGT quartiles. After adjustment for confounding factors, the odds ratio and 95% confidence interval (CI) for new onset MS, comparing the highest to the lowest quartiles of baseline GGT, was 2.07 (95% CI: 1.52–2.80). The odds ratio for the highest GGT changes (>4 IU/L increase) in comparison to the lowest GGT changes (<-5 IU/L decrease) was 1.75 (95% CI: 1.32–2.33). Among participants with baseline GGT concentrations Subject(s)
Adult
, Humans
, Cohort Studies
, Follow-Up Studies
, Incidence
, Odds Ratio
, Prospective Studies
摘要
BACKGROUND: The aim of this study was to investigate the association between regional body fat distribution, especially leg fat mass, and the prevalence of diabetes mellitus (DM) in adult populations. METHODS: A total of 3,181 men and 3,827 postmenopausal women aged 50 years or older were analyzed based on Korea National Health and Nutrition Examination Surveys (2008 to 2010). Body compositions including muscle mass and regional fat mass were measured using dual-energy X-ray absorptiometry. RESULTS: The odds ratios (ORs) for DM was higher with increasing truncal fat mass and arm fat mass, while it was lower with increasing leg fat mass. In a partial correlation analysis adjusted for age, leg fat mass was negatively associated with glycosylated hemoglobin in both sexes and fasting glucose in women. Leg fat mass was positively correlated with appendicular skeletal muscle mass and homeostasis model assessment of β cell. In addition, after adjusting for confounding factors, the OR for DM decreased gradually with increasing leg fat mass quartiles in both genders. When we subdivided the participants into four groups based on the median values of leg fat mass and leg muscle mass, higher leg fat mass significantly lowered the risk of DM even though they have smaller leg muscle mass in both genders (P<0.001). CONCLUSION: The relationship between fat mass and the prevalence of DM is different according to regional body fat distribution. Higher leg fat mass was associated with a lower risk of DM in Korean populations. Maintaining leg fat mass may be important in preventing impaired glucose tolerance.
Subject(s)
Adult , Female , Humans , Male , Absorptiometry, Photon , Adipose Tissue , Arm , Body Composition , Body Fat Distribution , Diabetes Mellitus , Fasting , Glucose , Glycated Hemoglobin , Homeostasis , Korea , Leg , Muscle, Skeletal , Odds Ratio , Prevalence摘要
BACKGROUND: Type 1 diabetes is associated with more severe glycemic variability and more frequent hypoglycemia than type 2 diabetes. Glycemic variability is associated with poor glycemic control and diabetic complications. In this study, we demonstrate the clinical usefulness of serum 1,5-anhydroglucitol (1,5-AG) for assessing changes in glycemic excursion in type 1 diabetes. METHODS: Seventeen patients with type 1 diabetes were enrolled in this study. A continuous glucose monitoring system (CGMS) was applied twice at a 2-week interval to evaluate changes in glycemic variability. The changes in serum glycemic assays, including 1,5-AG, glycated albumin and hemoglobin A1c (HbA1c), were also evaluated. RESULTS: Most subjects showed severe glycemic excursions, including hypoglycemia and hyperglycemia. The change in 1,5-AG level was significantly correlated with changes in the glycemic excursion indices of the standard deviation (SD), mean amplitude of glucose excursion (MAGE), lability index, mean postmeal maximum glucose, and area under the curve for glucose above 180 mg/dL (r=-0.576, -0.613, -0.600, -0.630, and -0.500, respectively; all P<0.05). Changes in glycated albumin were correlated with changes in SD and MAGE (r=0.495 and 0.517, respectively; all P<0.05). However, changes in HbA1c were not correlated with any changes in the CGMS variables. CONCLUSION: 1,5-AG may be a useful marker for the assessment of short-term changes in glycemic variability. Furthermore, 1,5-AG may have clinical implications for the evaluation and treatment of glycemic excursions in type 1 diabetes.
Subject(s)
Humans , Diabetes Complications , Glucose , Hyperglycemia , Hypoglycemia摘要
BACKGROUND/AIMS: Serum fibroblast growth factor-21 (FGF-21) levels are elevated in obesity, metabolic syndrome, and type 2 diabetes. Clinical studies have demonstrated an association between FGF-21 and nonalcoholic fatty liver (NAFL) in the general population. This study investigated the association between FGF-21 and NAFL in Korean men with type 2 diabetes. METHODS: Clinical and biochemical metabolic parameters were measured in 135 Korean men with type 2 diabetes (mean age: 56.2 +/- 9.2 years; HbA1C: 7.6 +/- 1.5%). Serum FGF-21 was determined by enzyme-linked immunosorbent assay. NAFL severity was assessed by ultrasound of the liver. High-grade (hg) NAFL was defined as moderate or severe fatty liver. RESULTS: The patients were divided into three subgroups according to NAFL severity: normal (17.0%), low-grade (50.4%), and high-grade (32.6%). Patients with hgNAFL had a larger waist circumference and higher body mass index (BMI), homeostatic model assessment-estimated insulin resistance (HOMA-IR) score, and triglyceride (TG), liver enzyme, and FGF-21 levels than those with a normal liver. FGF-21 correlated positively with BMI, serum creatinine (Cr), TG, liver enzymes, and high-sensitivity C-reactive protein, but negatively with high density lipoprotein (HDL). In multivariate regression analysis, Cr and TG were independently associated with FGF-21. BMI, TG, HDL, HOMA-IR, and FGF-21 correlated strongly with hgNAFL. The odds ratio (OR) of a 1-standard-deviation increase in FGF-21 predicting hgNAFL was 2.39 (95% confidence interval, 1.55-3.68). The OR remained significant after adjustment for Cr, TG, BMI, and HOMA-IR. CONCLUSIONS: Our findings suggest an independent association of serum FGF-21 with NAFL in Korean men with type 2 diabetes.
Subject(s)
Humans , Male , Body Mass Index , C-Reactive Protein , Creatinine , Enzyme-Linked Immunosorbent Assay , Fatty Liver , Fibroblasts , Insulin Resistance , Lipoproteins , Liver , Obesity , Odds Ratio , Triglycerides , Ultrasonography , Waist Circumference摘要
Agranulocytosis is a rare but the most serious life-threatening complication of antithyroid drug therapy. Most cases of agranulocytosis occur within the first 3 months of antithyroid drug therapy, but some cases happen several years after starting treatment. However, there is a paucity of data on the delayed onset of agranulocytosis. We report a case of methimazole-induced agranulocytosis with suppurative pharyngotonsillitis occurring during the long-term treatment. A 48-year-old woman with Graves' disease visited our hospital with sore throat and high fever (39.2degrees C). She had continuously been treated with methimazole for the preceding 7 years-15 to 40 mg daily from Jul 2007 until Apr 2014 and 50 mg daily from May 2014 until September 2014. A month ago, the dose of methimazole had been reduced to 10 mg daily due to transient neutropenia. Her initial blood tests showed an absolute neutrophil count of 40/microL. Moreover, physical examination showed right neck enlargement. We stopped methimazole, and she was empirically treated with broad-spectrum antibiotics and granulocyte colony stimulating factor. Neck CT scan detected enlarged right tonsils and lymph node. Cervical lymph node biopsy only showed acute and chronic inflammation. About 3 weeks after she recovered, 10 mCi of radioiodine ablation therapy was performed. This case suggests that the sign of agranulocytosis should be carefully monitored in patients with Graves' disease, throughout the course of treatment with methimazole, even under the long-term therapy.
Subject(s)
Female , Humans , Middle Aged , Agranulocytosis , Anti-Bacterial Agents , Biopsy , Colony-Stimulating Factors , Drug Therapy , Fever , Granulocytes , Graves Disease , Hematologic Tests , Inflammation , Lymph Nodes , Methimazole , Neck , Neutropenia , Neutrophils , Palatine Tonsil , Pharyngitis , Physical Examination , Tomography, X-Ray Computed摘要
Primary duodenal adenocarcinoma is a rare malignant neoplasm accounting for 0.3% of all gastrointestinal tract carcinomas. We herein present one case of duodenal adenocarcinoma after duodenal neuroendocrine carcinoma. Poorly differentiated duodenal neuroendocrine carcinoma with liver metastasis (TxNxM1) was confirmed, and eight cycles of palliative chemotherapy (5-fluorouracil/etoposide/cisplatin) were administered. The patient was then in a clinically complete response status. About 1 year later, newly developed adenocarcinoma was detected at the same site. It was completely surgically resected, and the patient was cured.
Subject(s)
Humans , Male , Middle Aged , Adenocarcinoma/diagnosis , Antineoplastic Agents/therapeutic use , Duodenal Neoplasms/diagnosis , Neoplasms, Second Primary/diagnosis , Neuroendocrine Tumors/diagnosis摘要
Duodeno-colonic fistula is an enterocolonic fistula that occurs as a complication of Crohn's disease. Symptoms of duodeno-colonic fistula are similar to those of Crohn's disease, such as weight loss and diarrhea. The treatment of choice is surgery, although medical treatment may also be considered. However, surgery is recommended when all available medical therapies have been ineffective. In this case, we report a secondary duodeno-colonic fistula due to Crohn's disease that was temporarily managed by an endoscopic procedure with a detached endoloop and hemoclips as a bridging therapy to final surgical repair.
Subject(s)
Adult , Female , Humans , Crohn Disease/complications , Endoscopy, Digestive System/instrumentation , Intestinal Fistula/diagnosis , Preoperative Care , Tomography, X-Ray Computed摘要
Klinefelter syndrome is the most common type of genetic cause of hypogonadism. This syndrome is characterized by the presence of 1 or more extra X chromosomes. Phenotype manifestations of this syndrome are small testes, fibrosis of the seminiferous tubules, inability to produce sperm, gynecomastia, tall stature, decrease of serum testosterone and increases of luteinizing hormone and follicle stimulating hormone. Most patients with Klinefelter syndrome are tall, with slender body compositions, and reports of obesity are rare. We report the case of a 35-yr-old man with hypogonadism and morbid obesity and diabetes mellitus. He had gynecomastia, small testes and penis, very sparse body hair and his body mass index was 44.85. He did not report experiencing broken voice and was able to have erections. We conducted a chromosome study. His genotype was 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2). In this case, the patient was diagnosed as Klinefelter syndrome. He showed rare phenotypes like morbid obesity and average height and the phenotype may be caused by the karyotype and the excess number of X chromosome. Further studies of the relationship between chromosomes and phenotype are warranted.
Subject(s)
Adult , Humans , Male , Diabetes Complications/genetics , Karyotyping , Klinefelter Syndrome/complications , Obesity, Morbid/complications , Phenotype摘要
Pheochromocytoma is a rare neuroendocrine tumor that is usually derived from adrenal medulla or chromaffin cells along with sympathetic ganglia. In Western countries, the prevalence of pheochromocytoma is estimated to be between 1:6,500 and 1:2,500, compared with an incidence in the United States of 500 to 1,100 cases per year. Despite this low incidence, pheochromocytoma should always be considered for differential diagnoses because previous studies have shown that this condition can be cured in approximately 90% of cases. However, an untreated tumor is likely to be fatal due to catecholamine-induced malignant hypertension, heart failure, myocardial infarction, stroke, ventricular arrhythmias or metastatic disease. Symptoms that result primarily from excess circulating catecholamines and hypertension include severe headaches, generalized inappropriate sweating and palpitations (with tachycardia or occasionally bradycardia). Pheochromocytoma, however, has highly variable and heterogeneous clinical manifestations, including fever, general weakness and dyspepsia, and can be observed in patients who are suffering from infectious diseases. Several of such case reports have been presented, but most of these included infectious patients with high blood pressure and severe fluctuations. In this study, we presented the case of a 53-year-old male who showed normal blood pressure, but had a sustained fever. He was diagnosed with diabetic ketoacidosis, infective endocarditis and asymptomatic adrenal incidentaloma. Despite treatment with antibiotics and valve replacement, the fever persisted. After the patient underwent evaluation for the fever, adrenal incidentaloma was identified as pheochromocytoma. After removal of the abdominal mass, his fever improved.
Subject(s)
Humans , Male , Middle Aged , Adrenal Gland Neoplasms , Adrenal Medulla , Anti-Bacterial Agents , Arrhythmias, Cardiac , Blood Pressure , Catecholamines , Chromaffin Cells , Communicable Diseases , Diabetic Ketoacidosis , Diagnosis, Differential , Dyspepsia , Endocarditis , Fever , Ganglia, Sympathetic , Headache , Heart Failure , Hypertension , Hypertension, Malignant , Incidence , Myocardial Infarction , Neuroendocrine Tumors , Pheochromocytoma , Prevalence , Stress, Psychological , Stroke , Sweat , Sweating , Tachycardia , United States摘要
Acromegaly is generally caused by a benign growth hormone (GH)-secreting pituitary adenoma. It is characterized by a wide range of complications; cardiovascular, respiratory, bone and joint, and metabolic complications. Among them, impaired glucose tolerance and diabetes mellitus, due to GH-induced insulin resistance, has been reported in approximately 16-46% and 19-56%. They are usually improved following the treatment of acromegaly, surgical or medical therapy. We report a first case of 36-year-old man who was paradoxically diagnosed with GAD antibody positive latent autoimmune diabetes in adults (LADA) after the surgical cure of acromegaly.