Androgen insensitivity syndrome

Question 1

What type of condition is androgen insensitivity syndrome?

Answer 1

X-linked recessive condition

Question 2

What is androgen insensitivity syndrome due to?

Answer 2

End-organ resistance to testosterone

Question 3

What does androgen insensitivity syndrome cause?

Answer 3

Genotypically male children (46XY) to have a female phenotype

Question 4

What is the genotype of someone with androgen insensitivity syndrome?

Answer 4

46XY

Question 5

What are the main featrues of androgen insensitivity syndrome?

Answer 5

‘primary amenorrhoea’
little or no axillary and pubic hair
undescended testes causing groin swellings
breast development

Question 6

What can indescended testes cause in soemone with androgen insensitivity syndrome?

Answer 6

Groin swellings

Question 7

How can breast development occur in someone with androgen insensitivity syndrome?

Answer 7

Due to the conversion of testosterone to oestradiol

Question 8

How can androgen insensitivity syndrome be diagnsoed?

Answer 8

Buccal smear
or
Chromosomal analysis to reveal 46XY genotype

Question 9

What is requiered in for the management of someone with androgen insensitivity syndrome?

Answer 9

Counselling
Bilateral orchidectomy
Oestrogen therapy

Question 10

How is a child normally raised with androgen insensitivity syndrome?

Answer 10

Raised as female