Androgen Insensitivity Syndrome

Question 1

Androgen insensitivity syndrome

Answer 1

Cells are unable to respond to androgen hormones due to a lack of androgen receptors.

Question 2

Inheritance pattern of androgen insensitivity syndrome

Answer 2

X linked recessive

Question 3

Genetic mutation for androgen insensitivity syndrome

Answer 3

Mutation in the androgen receptor gene

Question 4

Genotype and phenotype of androgen insensitivity syndrome

Answer 4

Genotype: XY

Phenotype: Female

Question 5

Reproductive organs in androgen insensitivity syndrome

Answer 5

Female external genitalia and breast tissue

Have testes in the abdomen or inguinal canal, and absence of a uterus, upper vagina, cervix, fallopian tubes and ovaries.

Question 6

Why do female internal organs not develop

Answer 6

The testes produce anti-Müllerian hormone, which prevents development of an upper vagina, uterus, cervix and fallopian tubes

Question 7

Presentation of androgen insensitivity syndrome

Answer 7

Infancy - inguinal hernias containing testes

Puberty - primary amenorrhoea

Lack of pubic hair, facial hair and male type muscle development.

Tend to be slightly taller than the female average.

Patients are infertile

Question 8

Complications of androgen insensitivity syndrome

Answer 8

Increased risk of testicular cancer unless the testes are removed

Question 9

Investigations for androgen insensitivity syndrome

Answer 9

Examination

Bloods - Hormone tests

Pelvic USS

Question 10

Results of hormone tests for androgen insensitivity syndrome

Answer 10

Raised LH

Normal or raised FSH

Normal or raised testosterone levels (for a male)

Raised oestrogen levels (for a male)

Question 11

Management of androgen insensitivity syndrome

Answer 11

Specialist MDT

Bilateral orchidectomy (removal of the testes) to avoid testicular tumours

Oestrogen therapy

Vaginal dilators or vaginal surgery

Support and counselling