Testing & Diagnosis for Vaginal Agenesis in Children


The first step in treating your child is making an accurate and complete diagnosis.

Testing is especially important for vaginal agenesis, in order to understand the extent of the reproductive anomalies. Dr. Marc Laufer and his staff at the Center for Congenital Anomalies of the Reproductive tract have over 20 years of experience treating young women with vaginal agenesis and other congenital reproductive anomalies so the appropriate diagnosis and treatment recommendations can be made.

Young women typically present for testing sometime during the middle teen years when they experience primary amenorrhea, or lack of a menstrual period after having normal breast development. They can come to Children’s after being referred for an evaluation, or to confirm a previous evaluation from another provider. 

Testing options:

  • external genital exam
  • modified internal exam
  • ultrasound
  • MRI

Testing for Mayer-von Rokitansky–Küster-Hauser’s (MRKH) syndrome            

  • Karyotyping
  • Karyotyping is a test that allows doctors to examine chromosomes in a sample of cells and pinpoint specific genetic causes of a disease.
  • MRKH has a karyotype of 46 XX, which is a normal karyotype for all women. All girls diagnosed with MRKH are genetic females.