Androgen Insensitivity | Symptoms & Causes

What are the symptoms of androgen insensitivity?

Possible symptoms of androgen sensitivity include:

Girls and women with androgen insensitivity have normal external genitalia, namely, a lower vagina, labia, clitoris and urethra. Girls with androgen insensitivity look like normal females and go through puberty and normal breast development, but because their bodies cannot use testosterone, they will have scant or no pubic and armpit hair. Inside her body, the internal sexual organs don't form normally. In fetal development, her fetal testes produced something called mullerian inhibiting substance, which prevented the growth of the upper vagina, cervix and uterus.

Girls with androgen insensitivity have a Y chromosome, which causes testes to grow. So, she will have testes that may appear as hernias or lumps in the groin or abdomen. These will need to be removed to prevent cancer.

What causes androgen insensitivity?

Androgen insensitivity is a genetic mutation on the X chromosome that can be inherited from the mother or happen as a spontaneous genetic change at conception. This mutation prevents the body tissue from using male hormones (androgens) during fetal development and after birth. This will interfere with gender development, because, in early fetal life, the potentially male (XY) and female (XX) fetuses are identical and require androgens to develop into a male.

The fetal tissue cells are missing the androgen receptor, so when androgens are released during development in a genetically male fetus, the cells cannot respond to the androgens—almost like trying to fit a house key into the wrong door. Masculinization won't occur, so the baby will develop into a female because estrogen is present.