Ambiguous Genitalia
Type: Symptom
Definition
Genitals that do not have the typical appearance of either male or female sex organs.
Clinical Details
In genetically female (XX) fetuses with severe CAH, the exposure to high levels of adrenal androgens in utero causes virilization. The clitoris becomes significantly enlarged and the labia may fuse, creating an appearance that resembles male genitalia. This often leads to immediate diagnostic evaluation at birth to confirm genetic sex.