ABSTRACT
Animal models of impaired steroidogenesis provide a valuable complement to clinical studies of human patients, permitting experimental manipulations that are not possible in humans and facilitating the use of novel methodologies such as targeted gene disruption and transgenic rescue to create new genetic models. As outlined below, these animal models encompass the full spectrum of steroidogenesis-ranging from defects at the hypothalamicpituitary levels that indirectly affect steroid production to defects in circulating lipoproteins that affect the delivery of substrate for steroidogenesis to intrinsic defects within the steroidogenic tissues that impair steroidogenesis. In this chapter, we provide an overview of the currently available animal models, focusing particularly on abnormalities intrinsic to the steroidogenic organs. These animal models provide opportunities to explore the potential of gene therapy, possibly leading to the development of methods for the genetic correction of human inborn errors of steroidogenesis.
