5-Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family.

Key clinical message: 5-Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome. Sex assignment should be deferred until puberty because spontaneous virilization occurs and the patient can engage in the decision-making process. Abstract: 5-Alpha reductase deficiency is a genetic disorder causing 46, XY disorder of sex development (DSD). Typical clinical feature is a male with ambiguous genitalia or undervirilization at birth. Here we report three cases of this disorder within a family.

Trends in insulin-like growth factor-1 levels after bariatric surgery: a systematic review and meta-analysis.

According to studies, there are many inconsistencies in how IGF-1 levels change after bariatric surgery compared to before surgery, as well as its effects. These discrepancies can be attributed to various factors such as age, body mass index (BMI), and duration of intervention. Therefore, the aim of this study was to evaluate the level of insulin-like growth factor-1 (IGF-1) after bariatric surgery. A systematic review and meta-analysis based on the PRISMA guidelines was conducted from inception until 2021. From 1871 articles initially selected, 24 studies with 28 treatment arms met the eligible criteria and were included. Pooled findings from the random-effects model indicated that IGF-1 levels increased significantly [weighted mean difference (WMD) = 8.84 ng/ml; 95% confidence interval (CI) 0.30-17.39; p = 0.043] after bariatric surgery compared to before surgery. No significant heterogeneity was noted among the studies (Cochran Q test, p = 0.90, I2 = 0.0%). In subgroup analysis, bariatric surgery significantly increased IGF-1 levels at age <40 years but not at age ≤40 years. Bariatric surgery is capable of increasing the IGF-1 levels compared to the period prior to surgery but with a modest clinical magnitude.

The effect of paleolithic diet on glucose metabolism and lipid profile among patients with metabolic disorders: a systematic review and meta-analysis of randomized controlled trials.

OBJECTIVE: Several randomized clinical trials (RCTs) have investigated the effects of the Paleolithic diet (PD) in adult patients suffering from metabolic disorders. However, the results of these RCTs are conflicting. Therefore, we conducted a systematic review and meta-analysis to assess the effects of the PD in patients with metabolic disorders. METHODS: We searched the PubMed/Medline, Scopus, Cochrane Databases, Google Scholar, Web of Science, and Embase databases up to June, 2020. The data were pooled using a random-effects model. From the eligible publications, 10 articles were selected for inclusion in this systematic review and meta-analysis. The meta-analysis was performed using a random-effects model. The heterogeneity was determined using the I2 statistics and the Cochrane Q test. RESULTS: The pooled results from the random-effects model showed a significant reduction of the homeostatic model assessment of insulin resistance (HOMA-IR) (weighted mean difference, WMD: -0.39, 95% CI: -0.70, -0.08), fasting insulin (WMD: -12.17 µU/mL, 95% CI: -24.26, -0.08), total cholesterol (WMD: -0.32 mmol/l, 95% CI: -0.49, -0.15), triglycerides (WMD: -0.29 mmol/L, 95% CI: -0.42, -0.16), low-density lipoprotein cholesterol (WMD: -0.35 mmol/L, 95% CI: -0.67, -0.03), blood pressure (BP)(WMD - 5.89 mmHg; 95% CI - 9.973 to - 1.86 for the systolic BP and WMD - 4.01 mmHg; 95% CI - 6.21 to - 1.80 for the diastolic BP values) and C-reactive protein (CRP) levels (WMD: -0.84, mg/L, 95% CI: -1.62, -0.06) in the PD group versus control group. CONCLUSIONS: Our findings provide better insights into the effect of the PD on the modulation of the glucose and lipid metabolism factors in patients with metabolic disorders, providing comprehensive information for the development of future RCTs with a high quality design.

Dietary insulin index and load with risk of breast cancer in a case-control study.

OBJECTIVE: Circulating insulin levels have been positively associated with risk of breast cancer (BrCa); however, it remains unclear whether a diet inducing an elevated insulin response influences Breast risk. METHODS: In this study, 250 newly diagnosed breast cancer patients and 250 hospitalised controls were recruited using convenience sampling. The dietary insulin index (DII) was calculated by dividing the dietary insulin load by the total energy intake. RESULTS: Compared with those in the lowest tertiles of DII and dietary insulin load (DIL), subjects in the highest tertile were more likely to be overweight, have a family history of breast and other types of cancer and a history of benign breast diseases. After controlling for multiple potential confounders, a significantly increased BrCa odds was observed in the highest tertiles of DII and DIL score compared with the lowest tertiles (odds ratio (OR): 1.46; 95% CI: 0.67-3.19, P = .006) and (OR: 1.87; 95% CI: 0.92-3.80, P = .038), respectively. CONCLUSIONS: Our findings suggest that a diet that induces an elevated postprandial insulin response, indicated by higher DII and DIL scores, may increase the odds of BrCa, especially among women.

Clinical and Paraclinical Characteristics of Non-Classic Phenylketonuria.

OBJECTIVE: Phenylketonuria (PKU) is one of the most common inherited metabolic diseases, which is classified into classic and non-classic types. It is estimated that 2% of children with PKU develop a severe and progressive neurological disease, called non-classic (malignant) PKU. This study aimed to demonstrate the clinical features, laboratory findings, and diagnostic/therapeutic characteristics of non-classic PKU patients referred to a tertiary referral center for children in Tehran, Iran. MATERIALS & METHODS: In this study, background information, such as gender and age, clinical manifestations, laboratory findings, and response rate to conventional treatment, was investigated in patients with non-classic PKU, who were referred to Mofid Children's Hospital in Tehran, Iran, through neonatal screening. RESULTS: Twenty patients with a diagnosis of non-classic PKU were included in this study. The mean age of the patients was 6.00±2.81 years (range: 2-12 years), and 45.0% were male. In patients with a late diagnosis, the most common presentations were motor developmental delay (15.0%), skin and cutaneous manifestations (15.0%), seizure (5.0%), and restlessness (5.0%). The overall response rate to treatment was 85.0%. Factors that predict good response to treatment included female gender, higher neopterin level, and lower age at diagnosis and management. CONCLUSION: In conclusion, about half of patients with non-classic PKU remain asymptomatic, which is due to early diagnosis via neonatal screening. Also, higher age at diagnosis and treatment, besides low neopterin levels, may be useful as prognostic factors.

Association of dietary insulinaemic potential and odds of non-alcoholic fatty liver disease among adults: A case-control study.

BACKGROUND: Hyperinsulinaemia is considered as a major risk factor for the development of a myriad of chronic diseases. We examined the association between the dietary insulinaemic potential and the odds of non-alcoholic fatty liver disease (NAFLD) among Iranian adults. METHODS: After being subjected to a liver ultrasound, 166 patients with NAFLD and 200 controls were included in the study. The dietary intakes and the physical activity levels of the participants were evaluated using a validated semi-quantitative food frequency questionnaire and the International Physical Activity Questionnaire (short IPAQ), respectively. The insulinaemic potential of the diet was assessed by computing the scores of the Empirical Dietary Index for Hyperinsulinemia (EDIH) and the Empirical Dietary Index for Insulin Resistance (EDIR). RESULTS: Compared with the control subjects, patients with NAFLD were significantly older; had higher values for body mass index, fasting blood sugar, triglycerides, low-density lipoprotein cholesterol, total cholesterol and alanine transaminase; and were more likely to smoke. Moreover, NAFLD patients had significant lower levels of high-density lipoprotein cholesterol and were less likely to perform physical activity. The risk of NAFLD was higher in the individuals in the highest tertile of the EDIH (odds ratio [OR] = 2.79; 95% confidence interval [CI] = 1.32-5.90; p value for trend < 0.05) and EDIR (OR = 2.42; 95% CI = 1.22-4.79; p value for trend < 0.05) compared to those in the lowest tertile of these scores. CONCLUSIONS: Our study indicates that a higher dietary insulinaemic potential is associated with an increased risk of NAFLD.