Steroidogenic Factor 1 (SF1)

SF-1 is critical regulator of reproduction because it regulates the transcription of key genes involved in sexual development and reproduction. Its targets include genes at every level of the hypothalamic-pituitary-gonadal axis, as well as many genes involved in gonadal and adrenal steroidogenesis. Mutations in NR5A1 can produce intersex genitals, absence of puberty, and infertility.It is one cause of arrest of ovarian function in women <40 years of age, which occurs in 1% of all women.Missense, in-frame and frameshift mutations of NR5A1 have been found in families with 46,XY disorders of sex development, 46,XX gonadal dysgenesis and 46,XX primary ovarian insufficiency. 46,XY individuals may have ambiguous or female genitals.