Typical ambiguous genitalia in genetic females include an enlarged clitoris that has the appearance of a small penis . The labia may be fused together, resembling a scrotum . There may be a small scrotum with any degree of separation, resembling labia. Undescended testicles commonly accompany ambiguous genitalia. The medical history will be obtained and a physical examination performed.
Physical examination reveals questionable genital structure.
Chromosomal analysis is a more extensive study of cells that may be needed in more questionable cases. Endoscopy , abdominal X-ray , ultrasound or MRI, or similar studies may be needed to determine the presence or absence of internal genital structures. Laboratory tests may help determine the possible causes for ambiguous genitalia, including tests for 17-ketosteroids , serum cortisol levels and other adrenal hormones, electrolytes. In some cases, laparoscopy , exploratory laparotomy , or biopsy of the gonads may be necessary to confirm disorders associated with ambiguous genitalia. Depending on the cause, surgery, hormone replacements, or other treatments are used to treat conditions associated with ambiguous genitalia.