Androgen insensitivity syndrome

Question 1

What is Partial androgen insensitivity syndrome?

Answer 1

Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the cell to respond to androgens

Question 2

What type of inheritance pattern does partial androgen insensitivity syndrome follow?

Answer 2

X linked recessive condition

Question 3

What is the karyotype for partial androgen insensitivity syndrome?

Answer 3

46 XY, DSD

Question 4

What are the different types of androgen insensitivity syndrome?

Answer 4

1. Complete AIS –> external genitalia female
2. Partial AIS –> external genitalia partially masculinised
3. Mild AIS –> external genitalia male

Question 5

What are the signs of androgen insensitivity syndrome?

Answer 5

Pubertal undervirilisation: gynecomastia, decreased secondary terminal hair, and / or a high pitched voice

Question 6

What are the internal sexual structures for someone with androgen insensitivity syndrome?

Answer 6

Undescended testes

Question 7

What are the external sexual structures for someone with androgen insensitivity syndrome?

Answer 7

Depends on degree

1. Complete AIS –> external genitalia female
2. Partial AIS –> external genitalia partially masculinised

Often lower 1/3 of vagina

Question 8

How would you manage someone with androgen insensitivity syndrome?

Answer 8

Most children with CAIS are raised as girls.

Hormone therapy