Gynae: 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

X-linked recessive genetic condition, caused by a mutation in the androgen receptor gene on the X chromosome

extra androgens are converted into oestrogen = female secondary sexual characteristics

Question 2

describe the features of someone with androgen insensitivity syndrome

Answer 2

genetically male with XY sex chromosome

female phenotype externally - female eternal genitalia and breast tissue

testes in abdomen or inguinal canal. absent uterus, upper vagina, cervix, fallopian tubes, ovaries

female internal organs do not develop because testes produce anti mullerian hormone which prevents males from developing an upper vagina, uterus, cervix, fallopian tubes

insensitivity to androgens also results in lack of pubic hair, facial hair and male type muscle development

infertile

increased risk of testicular cancer unless testes are removed

Question 3

how does androgen insensitivity present?

Answer 3

inguinal hernias containing testes

presents at puberty with primary amenorrhoea

results of hormone tests are:

Raised LH, normal and raised FSH, normal or raised testosterone levels, raised oestrogen levels

Question 4

how is androgen insensitivity syndrome managed?

Answer 4

MDT approach

bilateral orchidectomy to avoid testicular tumours

oestrogen therapy

vaginal dilators or vaginal surgery can be used to create an adequate vaginal length

generally raised as female but this is sensitive and tailored to the individual