Androgen Insensitivity Syndrome

Question 1

What is androgen insensitivity syndrome?

Answer 1

Cells are unable to respons to androgens due to a lack of androgen receptors on cells

Question 2

What is the pattern of inheritance in someone with androgen insensitivity syndrome?

Answer 2

X-linked recessive

Question 3

What is the genotype of someone with androgen insensitivity syndrome?

Answer 3

46XY

Question 4

What is the phenotype of someone with androgen insensitivity syndrome?

Answer 4

Female phenotype with female external genitalia, and breast tissue

Question 5

How does androgen insensitivity syndome present?

Answer 5

In infancy with inguinal hernias that contain testes
In adolescence with primary amenorrhoea

Question 6

What are the hormone levels in androgen insensitivity syndrome?

Answer 6

Raised LH
Normal or raised FSH
Normal or raised testosterone
Raised oestrogen

Question 7

What internal genitalia does someone with androgen insensitivity syndrome have?

Answer 7

Patients have testes in the abdomen or inguinal canal
There is an absence of uterus, fallopian tubes, ovaries, cervix and upper vagina

Question 8

What is the definitive investigation for diagnosis of androgen insensitivity syndrome?

Answer 8

Buccal smear or chromosomal analysis to reveal 46XY genotype