<italic>NR5A1</italic> mutations are not associated with male infertility in Indian men.

Summary: <italic>NR5A1</italic> or steroidogenic factor 1 (<italic>SF1</italic>) is an autosomal gene, which encodes a protein that is a member of nuclear receptor family. <italic>NR5A1</italic> 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 <italic>NR5A1</italic> 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 <italic>NR5A1</italic> mutations can also contribute to primary ovarian insufficiency and impaired spermatogenesis. As there is no genetic study on <italic>NR5A1</italic> in Indian infertile men, we have sequenced the entire coding region (exons 2–7) of <italic>NR5A1</italic> 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 (<italic>p </italic>=<italic> </italic>.76). In addition, we have identified six intronic variants; but none of them was significantly associated with male infertility. [ABSTRACT FROM AUTHOR]