Androgen Insensitivity Syndrome

Question 1

What is androgen insensitivity syndrome?

Answer 1

Condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors. Extra androgens are converted into oestrogen, resulting in female secondary sexual characteristics.

Question 2

What is the inheritance pattern of androgen insensitivity syndrome?

Answer 2

X-linked recessive

Question 3

What is the risk of testicular cancer in patients with androgen insensitivity syndrome?

Answer 3

Increased unless testes are removed.

Question 4

What are signs and symptoms of partial androgen insensitivity syndrome?

Answer 4

Micropenis or clitoromegaly, bifid scrotum, hypospadias and diminished male characteristics.

Question 5

How does androgen insensitivity syndrome present?

Answer 5

Often presents in infancy with inguinal hernias containing testes. Alternatively, it presents at puberty with primary amenorrhoea.

Question 6

What hormonal test results would you expect in adrenal insensitivity syndrome?

Answer 6

1. Raised LH
2. Normal or raised FSH
3. Normal or raised testosterone levels (for a male)
4. Raised oestrogen levels (for a male)

Question 7

What might the medical management of androgen insensitivity syndrome involve?

Answer 7

1. Bilateral orchidectomy to avoid testicular tumours
2. Oestrogen therapy
3. Vaginal dilators or vaginal surgery to create adequate vaginal length