NR5A1 mutations are not associated with male infertility in Indian men.

NR5A1 or steroidogenic factor 1 (SF1) is an autosomal gene, which encodes a protein that is a member of nuclear receptor family. NR5A1 regulates the transcription of numerous genes that are expressed in hypothalamic-pituitary-gonadal axis and adrenal cortex which in turn, coordinate the gonadal development, steroidogenesis and sex differentiation. Several mutations in NR5A1 have been reported to cause gonadal dysgenesis with adrenal insufficiency in individuals with 46,XY karyotype. However, studies in the past few years have shown that NR5A1 mutations can also contribute to primary ovarian insufficiency and impaired spermatogenesis. As there is no genetic study on NR5A1 in Indian infertile men, we have sequenced the entire coding region (exons 2-7) of NR5A1 in 502 infertile men of which, 414 were non-obstructive azoospermic and 88 severe oligozoospermic, along with 427 ethnically matched fertile controls. Interestingly, none of the mutations reported to be associated with male infertility were found in our study, except one polymorphism, rs1110061. However, it was not significantly different between infertile and fertile groups (p = .76). In addition, we have identified six intronic variants; but none of them was significantly associated with male infertility.

High prevalence of diabetes, obesity and dyslipidaemia in urban slum population in northern India.

BACKGROUND AND AIMS: In this study, a prevalence survey of various atherosclerosis risk factors was carried out on hitherto poorly studied rural-urban migrants settled in urban slums in a large metropolitan city in northern India, with the aim of studying anthropometric and metabolic characteristics of this population in socio-economic transition. DESIGN: A cross-sectional epidemiological descriptive study. SUBJECTS: A total of 532 subjects (170 males and 362 females) were included in the study (response rate approximately 40%). METHODS AND RESULTS: In this study, diabetes mellitus was recorded in 11.2% (95% CI 6.8-16.9) of males and 9.9% (95% CI 7.0-13.5) of females, the overall prevalence being 10.3% (95% CI 7.8-13.2). Based on body mass index (BMI), obesity was more prevalent in females (15.6%; 95% CI 10.7-22.3) than in males (13.3%; 95% CI 8.5-19.5). On the other hand, classifying obesity based on percentage body fat (%BF), 10.6% (95% CI 6.4-16.2) of males and 40.2% (95% CI 34.9-45.3) of females were obese. High waist-hip ratio (WHR) was observed in 9.4% (95% CI 5.4-14.8) of males and 51.1% (95% CI 45.8-56.3) of the females. All individual skinfolds and sum of skinfolds were significantly higher in females (P<0.001). In both males and females above 30 y of age, there was a steep increase in the prevalence of high WHR, and in females, %BF was very high (particularly in %BF quartile>30%). Furthermore, total cholesterol and low-density lipoprotein cholesterol were high in both males and females. Stepwise multiple linear regression analysis showed that for both males and females BMI, WHR and %BF were positive predictors of biochemical parameters, except for HDL-c, for which these parameters were negatively associated. CONCLUSIONS: Appreciable prevalence of obesity, dyslipidaemia, diabetes mellitus, substantial increase in body fat, generalised and regional obesity in middle age, particularly in females, need immediate attention in terms of prevention and health education in such economically deprived populations.