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Ambiguous Genitalia

By Philip E. Gleason, MD

Of concern during the newborn physical exam are ambiguous genitalia. This is a situation when it may be difficult to tell exactly whether the genitalia are male or female. This is often the result of an imbalance of hormones during development and often an endocrinologist will be involved to check the hormone system.

An Urologist will also be involved to check the structure of the external genitalia and the internal reproductive tracts. This will often require an ultrasound of the kidneys, bladder and pelvis as well as an x-ray of the lower urinary and reproductive tracts to evaluate the urethra and possibly the vagina and uterus.

A geneticist will also often be involved to try to check the chromosomes for any abnormality that may contribute to the diagnosis and to aid in guiding the correct assignment of gender and any further management, treatment and follow-up needed.