Vaginal Agenesis

Diagnosis

Symptoms of this disorder may include:

• Absent vagina
• Absence of menstrual period
• Absent uterus and other reproductive organs
• Kidney abnormalities
• Skeletal abnormalities
• Hearing loss

Since outward genitalia appear normal, vaginal agenesis isn't usually diagnosed until puberty. Typically, an adolescent girl 15 to 18 years old consults a pediatrician or gynecologist when her period doesn't start. The condition may also be discovered in infancy or childhood while investigating kidney, skeletal or other abnormalities, such as the absence of an anal opening.

The pediatrician or gynecologist examines the patient and may order blood and imaging studies. These tests help doctors determine the next steps for treatment:

• Ultrasound -- reveals if the uterus and ovaries are present and the presence and location of kidneys.
• MRI -- shows a more detailed picture of the reproductive tract and kidneys.