A novel heterozygous missense mutation of Trp1220Gly in the insulin receptor gene associates with type A insulin resistance syndrome: A case report / 中华内分泌代谢杂志

We report a case of type A insulin resistance syndrome. A 16-year-old girl with BMI of 19.1 kg/m 2 presented with primary amenorrhea and hyperglycemia for two years. Baseline HbA 1C was 10.8%, along with severe hyperinsulinemia, increased total testosterone and free androgen index(FAI). Ultrasonography showed polycystic ovaries. Next generation sequencing identified a novel and de novo heterozygous missense mutation of Trp1220Gly in the insulin receptor gene. Short-term intensive insulin pump treatment was initiated, followed by insulin glargine, pioglitazone and acarbose combination regiment. Fasting blood glucose and insulin levels decreased significantly, but post-load hyperglycemia and hyperinsulinemia remained unsatisfactory. HbA 1C dropped to 7.6% at 1-year follow up. Patients with polycystic ovarian syndrome who are adolescent-onset and with lean body type should be taken into account of type A insulin resistance syndrome. Currently, there is no standardized treatment protocol, and therapy should be individualized based on the specific gene mutation of each patient.

Diagnostic strategy of primary aldosteronism based on CT scan and serum potassium level / 中华全科医师杂志

One hundred and forty-five patients with primary aldosteronism (PA) admitted from 2006 to 2013 were enrolled in the study. The diagnosis of PA was confirmed by upright furosemide test and all patients met the following criteria: ① round-or oval-shaped lesion of low density with diameter>1 cm in one adrenal gland shown in contrast CT scan; ② no lesion or abnormality in contralateral adrenal gland; ③serum potassium level<3.5 mmol/L. Of 145 patients, 106 underwent total adrenalectomy, 36 partial adrenalectomy and 3 tumor enucleation. Serum potassium was (2.75±0.55) mmol/L before and (4.03±0.46) after surgery. Potassium was normalized after treatment in 141 cases (97.2％) with correction or improvement in hypertension; 4 patients (2.8％) remained hypokalemic and received spironolactone. Patients with normalized potassium were followed up for a medium period of 74 months (22—103 months), of whom 32 (22.7％) dropped off; the remaining 109 (77.3％) patients did not have hypokalemia. Multivariate linear correlation analysis showed that serum potassium level was negatively correlated with tumor diameter (r=?0.273,95％ CI:?0.086—?0.564, P=0.026) and basal serum aldosterone level (r=?0.261,95％ CI:?0.047— ?0.514, P=0.036). In PA patients with unilateral adrenal macroadenoma and hypokalemia, satisfactory surgical resolution can be achieved without adrenal venous sampling in majority of patients.

Correlation between transient elastography controlled attenuation parameter and metabolic syndrome components / 中华内分泌代谢杂志

Objective To investigate the relationship between Fibroscan? data controlled attenuation parameter(CAP), liver stiffness measurement(LSM), and the risk of metabolic syndrome(MS). Methods A total of 817 subjects in this year's staffs physical checkup screening for fatty liver were recruited. Questionnaires were filled, anthropometries including neck and waist circumferences were collected, and fasting glucose, lipid profiles, insulin, adiponectin levels were measured, CAP and LSM were recorded using FibroScan? . The subjects were divided into MS and control groups. Clinical characteristic parameters were compared, and independent predictors for MS were analyzed. Results There were 231 subjects(28.3％) in the MS group and 586(71.7％) in the control group. As compared to the controls, MS group had significantly higher CAP, LSM, neck circumference, and fasting insulin levels[(277±48vs237±44)dB/m,(4.9±2.2vs4.1±1.0)kPa,(37.1±3.3vs34.1±3.0)cm,(9.3±4.7vs5.7± 2.9)μIU/ml, all P<0.01], whereas adiponectin levels were lower [(10.6 ± 8.8 vs 18.7 ± 14.9) ng/ml, P<0.01] . With the accumulation of MS components, CAP and LSM increased. When CAP and LSM were divided into quartiles, the number of MS components increased with increasing quartiles, along with proportions and odds ratios for the occurrence of MS, and CAP showed a stronger correlation with MS than LSM. Binary Logistic regression analysis revealed that CAP, age, neck circumference, adiponectin, and fasting insulin levels were independent predictors for MS. Even with no MS component, subjects with CAP≥248 dB/m had elevated body mass index, neck and waist circumference, waist to hip ratio, increased fasting insulin, triglyceride, uric acid and reduced adiponectin levels. Conclusion CAP showed a close relationship with MS. Increased CAP was associated with increased body weight, dyslipidemia, elevated uric acid, and fasting insulin, whereas reduced adiponectin even before the occurrence of MS.

Effect of micronized fenofibrate on beta-cell function and insulin resistance in type 2 diabetic patients with hypertriglyceridemia / 中华全科医师杂志

Thirty six patients with hypertriglyceridemia and impaired glucose regulation or newly diagnosed type 2 diabetes, whose fasting plasma glucose was ≤8.0 mmol/L, were treated by fenofibrate for 3 months. Lipid profile, insulin during intravenous glucose tolerance test and oral glucose tolerance test ( including glucose) were measured before and after treatment After treatment, lipid profile was significantly improved. Insulinogenic index (△I30/△G30) and acute insulin response were significantly increased (98. 9vs. 129. 2, 3558.9 vs. 4783. 3 pmol · L - 1 · min - 1, respectively, P ＜ 0. 05 ). Fasting insulin and insulin resistant index in homeostasis model assessment ( HOMA IR) decreased ( 128. 6 vs. 84. 8 pmol/L, 4. 8 vs.3.0, respectively, P ＜0. 05 ). The improvement of insulin secretory function was more significant in patients with higher triglyceride (TG ＞ 3. 3 mmol/L). These results indicate that short-term lipid-lowering treatment with fenofibrate can improve β-cell function and insulin resistance. Patients with higher triglyceride are likely to achieve more benefit from lipid-lowering treatment.

Fenofibrate Improved Acute Insulin Response in Subjects with Impaired Glucose Metabolism and Hypertriglyceridemia / 中山大学学报(医学科学版)

[Objective] The study was conducted to investigate the effect of micronized fenofibrate on acute insulin response in the subjects with impaired glucose metabolism and hypertriglyceridemia. [Methods] Fifty-three subjects were randomly (2:1 ratio) allocated to fenofibrate group (n=36, including IFG 3 cases, IGT 19 cases, IFG/IGT 6 cases, T2DM 8 cases) or control group (n = 17, including IFG 1 case, IGT 9 cases, IFG/IGT 4 cases, T2DM 3 cases) without any intervention for 3 months. Fasting blood samples were collected for measuring fasting plasma glucose (FPG), free fatty acids (FFA), and lipid profile. IVGTTs were carried out with measurement of plasma insulin before and after treatment. Acute insulin response (AIR), the maximum insulin concentrations (C_(INS,MAX)) to fasting insulin (FINS) ratio (C_(INS,MAX)/FINS) and values of the maximum insulin concentrations increment (△C_(INS)) during IVGTT were calculated as indexes of first-phase insulin secretion. HOMA insulin resistance index (HOMA IR) was used for assessing insulin resistance. [Results] After 3-month treatment, the lipid profile was evidently improved in fenofibrate group. Levels of trigiyceridemia (TG), low-density lipoprotein cholesterol and FFA were significantly reduced and high-density lipoprotein cholesterol increased significantly. Waist circumference was also significantly declined. No change of above indicators was found in control group. In fenofibrate group, C_(INS,MAX)/FINS and △C_(INS) were significantly increased (median 8.4 pmol/L vs. 5.3 pmol/L, 808±473 pmol/L vs. 660±472 pmol/L, both P<0.0001), along with great improvement of AIR (5 585±3 441 pmol·L~(-1)·min~(-1) vs. 4 444±3 642 pmol·L~(-1)·min~(-1), P<0.0001). The level of FINS and HOMA IR was also markedly reduced (108±65 pmol/L vs. 166±115 pmol/L, P = 0.002; 3.8±2.3 vs. 6.0±4.2, P = 0.001). In contrast, there were modest declining in acute insulin response (AIR: 4 313～1 943 pmol·L~(-1)·min~(-1) vs. 5 362±2 861 pmol·L~(-1).min~(-1); C_(INS,MAX)/FINS: median 4.6 vs. 7.0, P= 0.01; △C_(INS): 641±286 pmol/L, vs. 720±321 pmol/L, P= 0.003 9) and increasing HOMA IR (7.8±4.2 vs. 5.6±3.2, P<0.000 1) in control group after 3-month follow-up. The improvement of AIR was correlated with the decreasing of plasma FFA and TG (r=0.41, 0.36, P = 0.002, 0.014), but no correlation with the changing of FPG and HOMA IR. [Conclusions] These results indicated that sbort-term lipid-lowering treatment with fenofibrate evidently improved acute insulin response and alleviated insulin resistance in subjects with impaired glucose metabolism and hypertriglyceridemia. Moreover, the improvement of insulin secretion capacity may be mainly due to the relieving of iipotoxity resulting from finofibrate.

Observation on insulin secretion and insulin resistance in subjects with impaired glucose regulation / 中华内分泌代谢杂志

Insulin secretion and insulin resistance were evaluated in 152 subjects with normal glucose tolerance, impaired fasting glucose (IFG) and (or) impaired glucose tolerance (IGT). The data showed that subjects with IGT exhibited an evident deficit in the early and late phases of insulin secretion after glucose load and mild insulin resistance, and subjects with IFG demostrated evident insulin resistant and a great decline in early phase insulin response and HOMA-β.

The comparison among three assays for detection of microalbuminuria / 中国实用内科杂志

Objective To evaluate the consistency and diagnosis importance among three assays of Micral-Test strip,DCA 2000 analyzer and radioimmunoassay.Methods A total of 133 random urine samples of patients with diabetes were determined positive or questionable positive by Micral-Test strip,from whom urine samples within 8 hours during the nighttime were also collected.Both the two urine samples were determined by three assays for detection of microalbuminuria.Results(1)The value of Alb and AER determined by radioimmunoassy was significantly lower than that by DCA2000 analyzer,of which the sensitivity and specificity is 100%and 86.2%,?=0.812.(2)According to the reading scales of Micral-Test strip,the area under ROC curve(AUC)of random and 8 h urine samples were 0.900 and 0.934 respectively.(3)The AUC of random ACR and Alb was 0.952 and 0.923.The AUC of 8h urine ACR and Alb were 0.965 and 0.958.Conclusion The diagnosis importance among three assays is all dependable.Micral-Test strip is convenient for screening.ACR cannot substitute for AER as a diagnosis standard.And the value determined by DCA 2000 analyzer is more precise than that of radioimmunoassay.