Androgen Insensitivity Syndrome Flashcards
1
Q
What is Androgen Insensitivity Syndrome?
A
X linked recessive condition due to end organ resistance to testosterone
Leads to genetic males having a female phenotype
2
Q
What are features of AIS?
A
Primary Amenorrhoea
Little or no axillary/pubic hair
Groin swellings due to undescended Testes
Breast development can occur
3
Q
How is it diagnosed?
A
Buccal smear or chromosomal analysis to reveal 46XY
After puberty testosterone levels are in high/normal compared to boys
3
Q
What is the management?
A
Counselling- raise child as female
Bilateral orchidectomy to reduce risk of testicular cancer
Oestrogen therapy
