Care and Counseling of the Patient With Vaginal Agenesis

Vaginal agenesis, which occurs in approximately I in every 5,000 to 7,000 female births, is a significant threat to the mental health and well-being of an otherwise normal, healthy young woman. More than 90% of patients with vaginal agenesis fulfill the criteria for the Rokitansky-KusterHauser syndrome-ie, 46,XX karyotype with normal, functioning ovaries. Although it is typically absent, about 5% of patients have a uterus. Approximately 7% to 8% of the remaining patients have a more unusual genetic abnormality and fulfill the criteria for testicular feminization (androgen insensitivity syndrome). Genetically, these patients are 46,XY and prove to have only testicular tissue at gonadectomy. A few patients will have yet other chromosomal/gonadal variations; however, the procedure is basically the same whether counseling young women with 46,XX or 46,XY karyotypes.