Steroidogenic Factor 1
Steroidogenic Factor 1 (SF-1, NR5A1) is an orphan nuclear receptor of the FTZ-F1 subfamily that serves as the master transcriptional regulator of the hypothalamic-pituitary-gonadal and adrenal axes. Through a zinc-finger DNA-binding domain it controls expression of steroidogenic enzymes such as CYP11A1, CYP17A1 and CYP19A1, of AMH in Sertoli cells and of genes defining sexual differentiation. NR5A1 is expressed in steroidogenic tissues including the adrenal cortex, the gonads and the spleen, as well as in the ventromedial hypothalamus. Pathogenic variants cause a spectrum of disorders ranging from 46,XY differences of sex development and primary adrenal insufficiency to premature ovarian insufficiency, and the receptor also sustains the phenotype of adrenocortical carcinoma.
