46 XY DSD - CAIS

Question 1

What is the most common cause of 46 XY DSD?

Answer 1

Complete androgen insensitivity syndrome

Question 2

What is CAIS?

Answer 2

1. The body’s androgen receptors are non functional and do not respond to testosterone production
2. Thus ; external genitalia are not virilised and undergo female development instead

Question 3

Why is the baby born with normal female external genitalia but absent uterus and testes?

Answer 3

1. Anti mullerian hormone is still released which prevents the formation of fallopian tubes and uterus
2. testosterone levels despite being high are not regisered so male virilisation cannot take place either.

Question 4

When does this normally present?

Answer 4

Presents in puberty with primary amenorrhea