O Hiort and M Zitzmann

Contents

3.1

Introduction

3.2

Androgen action pathway

3.2.1

In foetal sexual differentiation

3.2.2

In puberty and adulthood

3.3

Generalized androgen insensitivity in humans

3.3.1

Biochemical evidence for defective androgen receptor

3.3.1.1

Pituitary-testicular axis

3.3.1.2

SHBG androgen sensitivity test

3.3.2

Genetic aspects of the androgen receptor in human androgen insensitivity

3.4

The role of CAG repeat polymorphisms of the androgen receptor

in various target organs

3.4.1

Kennedy syndrome: a pathological expansion of the AR gene CAG repeats

3.4.2

Ethnic differences

3.4.3

Prostate development and malignancy

3.4.4

Reproductive functions

3.4.5

Bone tissue

3.4.6

Cardiovascular risk factors

3.4.7

Psychological implications

3.4.8

Hair growth

3.4.9

Pharmacogenetic aspects of testosterone therapy

3.4.10

A hypothetical model of androgen action

3.5

Treatment options in androgen insensitivity syndromes

3.6

Outlook

3.7

Key messages

3.8

References

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