Androgen insensitivity syndrome

Question 1

What is androgen insensitivity syndrome?

Answer 1

X-linked recessive gene mutation with karyotype XY

Causing defect in androgen receptor, leading to varied insensitivity to androgen

Question 2

What are the clinical features of androgen insensitivity syndrome?

Answer 2

Female external genitalia and physique
Blind-ended vaginal pouch, uterine agenesis
Absent male internal genitalia (with the exception of the testes)
Undescended testicles
Scant or no pubic hair

Question 3

How is androgen insensitivity syndrome diagnosed?

Answer 3

(Before puberty) ↑ testosterone

After puberty) ↑ LH, ↑ estrogen, and normal/↑ testosterone levels (no virilization

Question 4

What is the treatment of androgen insensitivity syndrome?

Answer 4

(Complete androgen insensitivity) Oestrogen replacement
(Partial androgen insensitivity) High dose androgen
Gonadectomy
Psychological support