Sex diseases Flashcards
Androgen Insensitivity
46XY, Have normal female external genetilia, No Ovaries or tubes, Testes present in the abdomen or inguinal canal
Congenital Adrenal Hyperplasia
Normal Ovarian tissue, but ambiguous or male external genetilia
47XXY
Kleinfelter Synd, Male but has gonadaldysgenesis
DAX1 Duplication
Reduce testis and build ovaries… Both
X inactivation
Regulated by XIST gene on the Inactive X.. Form Barr bodies
XIST
Active on the Inactivated X. XIST -> RNA transcript that is not translated into protein. The inactive chromosome is then coated with this transcript
Mullerian Inhibiting Factor
Released by Testes. Encoded by AMH Gene (Anti-Mullerian Hormone) It inhibits the formation og mullerian tubes and ovaries