Table of Contents

INTRODUCTION

ANDROGEN BIOSYNTHESIS

METABOLISM OF TESTOSTERONE TO 5α-DIHYDRO-TESTOSTERONE

ANDROGEN ACTION

The androgen receptor and the nuclear receptor family

Cloning and structural organization of androgen receptor gene

Androgen receptor polymorphisms

ANDROGEN RECEPTOR: FUNCTIONAL DOMAIN STRUCTURE

The NH2-terminal domain

The DNA-binding domain

The hinge region

The ligand binding domain

Androgen Receptor Phosphorylation

Anti-androgens

Mechanism of action of antiandrogens

Selective Androgen Receptor Modulation

ANDROGEN RECEPTOR DISORDERS

Androgen insensitivity syndrome

Clinical features of the Complete Androgen Insensitivity Syndrome (CAIS)

Clinical features of the Partial Androgen Insensitivity Syndrome (PAIS)

Genetics of Androgen Insensitivity Syndrome

Mutations in the Androgen Receptor gene

Mutations in the NH2-terminal domain

Mutations in the DNA-binding domain

Mutations in the hinge region

Mutations in the ligand-binding domain

Deletions and duplications of the Androgen Receptor gene

Splice site mutations affecting Androgen Receptor RNA splicing

ANDROGEN METABOLISM DISORDERS

Clinical features of the syndrome of 5α-reductase type 2 deficiency

Molecular basis for the syndrome of 5α-reductase type 2 deficiency

References