Androgen Insensitivity Syndrome

Question 1

What type of condition is androgen insensitivity syndrome?

Answer 1

X-linked recessive

Question 2

What does androgen insensitivty syndrome cause?

Answer 2

End-organ resistance to testosterone

Question 3

What does end organ resistance to testosterone result in?

Answer 3

Ggenotypically male children (46XY) to have a female phenotype.

Question 4

What are the main features of androgen insensitivity syndrome?

Answer 4

‘primary amenorrhoea’
little or no axillary and pubic hair
undescended testes causing groin swellings
breast development may occur as a result of the conversion of testosterone to oestradiol

Question 5

What can undescended testes result in?

Answer 5

Groin swelling

Question 6

How can breasts develop in someone with androgen insensitivity syndrome?

Answer 6

As a result of the conversion of testosterone to oestradiol

Question 7

How can androgen insensitivity syndrome be diagnosed?

Answer 7

Buccal smear or chromosomal analysis to reveal 46XY genotype

Question 8

What will be high in someone with androgen insensitivty syndrome?

Answer 8

Testosterone levels

Question 9

What is the management for androgen insensitivity syndrome?

Answer 9

counselling - raise the child as female
bilateral orchidectomy
oestrogen therapy