This list is not all inclusive, and the causes are not presented in order of likelihood. The causes of this symptom can include unlikely diseases and medications. Furthermore, the causes may vary based on the specific characteristics of the symptom such as location, quality, and associated complaints. Use the Symptom Analysis option to explore the possible explanations for ambiguous genitalia, occurring alone or in combination with other problems. Because of the potential social and psychological effects of this condition, the decision to raise the child as a male or female should be made early after diagnosis, preferably within the first few days of the infant's life.
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.