Androgen Insensitivity Syndrome Flashcards
1
Q
what is it?
A
tissues unable to respond to androgen hormones
2
Q
aetiology?
A
X-linked recessive genetic mutation on androgen receptor gene on X chromosome
3
Q
what genotype do these people have?
A
XY
4
Q
what is their phenotype?
A
female phenotype w lower vagina and breast tissue but with testes & no uterus, fallopian tubes or ovaries
5
Q
how does the excess oestrogen develop?
A
extra androgens converted into oestrogen
6
Q
Mx?
A
- bilateral orchidectomy
- as increased risk of testicular cancer
- oestrogen therapy
- vaginal dilators /surgery
