The androgen resistance syndromes: clinical and biochemical aspects

Abstract

The genetic, biochemical, clinical and endocrinological features of syndromes associated with androgen resistance (insensitivity) are described. The clinical appearance of these syndromes covers the whole spectrum of phenotypically female patients to normal appearing men with infertility. In these disorders testosterone formation and regression of the Müllerian duct derivates are normal, but male development is absent or impaired as a result of total or partial resistance to androgen action in the target cell. Based on studies with cultured genital skin fibroblasts three defects on the level of the androgen target organ can be differentiated in these syndromes: 1. Defective testosterone metabolism, 2. anomalies of the androgen receptor and 3. a postreceptor defect.