Androgen insensitivity syndrome (testicular feminization): a model for understanding steroid hormone receptors

Abstract

Testicular feminization, a syndrome of end-organ androgen resistance, has been characterized at the molecular level. Well-defined mutations in the androgen receptor have been identified in this disorder. This receptor belongs to a family of intracellular hormone receptors, which includes receptors for corticosteroids, mineralocorticoids, sex hormones, vitamin D3, thyroid hormone, and retinoids. An understanding of the structure and molecular defects identified for the androgen receptor serves as a model to understand this entire class of receptors, a group directly involved in the biochemical pathways of a wide variety of dermatologic therapeutic interventions.