Abstract
The orphan nuclear receptor steroidogenic factor 1 (SF-1) was initially isolated as a key regulator of the cytochrome P450 steroid hydroxylases in adrenocortical and gonadal cells. Subsequent analyses of SF-1 knockout mice have expanded considerably our understanding of the roles that SF-1 plays in endocrine development. These SF-1 knockout mice lacked adrenal glands and gonads, with consequent male-to-female sex reversal of their internal and external genitalia. Thus, SF-1 is essential for the embryonic survival of the primary steroidogenic organs. They further exhibited impaired gonadotrope function and agenesis of the ventromedial hypothalamic nucleus, establishing that SF-1 contributes to reproductive function at all three levels of the hypothalamic-pituitary-gonadal axis. This report reviews experiments that have defined these critical roles of SF-1 in endocrine development, and highlights areas of ongoing investigation.
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