This birth defect is most often found in infants during a physical exam. It is often linked to issues called “disorders of sex differentiation .” The doctor will order blood tests to rule out other health problems. Things like congenital adrenal hyperplasia can be tied to this birth defect. Congenital adrenal hyperplasia should be treated right away. Congenital adrenal hyperplasia is a group of genetic conditions. This condition limits your adrenal glands' ability to make certain vital hormones. Often, the adrenal glands do not make enough cortisol. This condition can cause problems with normal growth and development in children – including with the genitals.
If this problem is suspected in a baby, an exam called a retrograde genitogram will be performed. Contrast dye will be injected into the common opening. The doctor will use an X-ray to figure out:
- How long the opening is
- How the urethra and the vagina are joined
This will allow the doctor to work out the best treatment.
If a retrograde genitogram is not clear, endoscopy may be done. In this test a fiber-optic camera is placed into the opening so the anatomy can be seen. In some cases ultrasound and MRI may be used as well.