Androgen insensitivity syndrome

Question 1

What is androgen insensitivity syndrome?

Answer 1

Condition in which cells are unable to respond to androgen hormones due to lack of androgen receptors

Question 2

Describe the genetics of androgen insensitivity syndrome

Answer 2

Caused by a mutation in the androgen receptor gene on the X chromosome

Question 3

Describe the pathophysiology of androgen insensitivity syndrome

Answer 3

Mutation causes a lack of androgen receptors
Excess androgens converted to oestrogen
This causes a female phenotype (External genitalia) but testes development internally

Question 4

What hormone prevents formation of uterus, uterine tubes and ovaries in males?

Answer 4

Anti-Mullerian hormone by the testicles

Question 5

What will hormone testing show in androgen insensitivity syndrome

Answer 5

• Raised LH
• Normal or raised FSH
• Normal or raised testosterone levels (for a male)
• Raised oestrogen levels (for a male)

Question 6

How is androgen insensitivity syndrome managed?

Answer 6

• Bilateral orchidectomy(removal of the testes) to avoid testicular tumours
• Oestrogen therapy
• Vaginal dilatorsorvaginal surgerycan be used to create an adequate vaginal length