androgen insensitivity syndrome Flashcards
1
Q
what
A
cells unable to respond to androgen hormones due to lack of receptors
2
Q
inheritence
A
x-linked recessive
3
Q
what happens to extra androgens
A
converted to oestrogen resulting in secondary female sexual characteristics
4
Q
what sex are they
A
genetically male but with external female phenotype
testes in abdo or inguinal canal
absence of female pelvic organs
5
Q
features
A
testes in abdo/inguinal canal no female pelvic organs external female phenotype lack pubic hair + facial hair tall infertile
6
Q
increased risk of…
A
testicular cancer unless testes removed
7
Q
how does it usually present
A
in infancy with inguinal hernias
at puberty with primary amenorrhoea
8
Q
hormonal analysis will show
A
raised LH normal/raisedFSH normal/raised testosterone (for a male) raised oestrogen (for a male)
9
Q
Mx optoins
A
bilateral orchidectomy - avoid testicular tumours
oestrogen therapy
vaginal dilators/surgery
