Vaginal Agenesis

Introduction

• Description: Vaginal agenesis is the congenital absence of the vagina, most often associated with an absence of the uterus (Mayer–Rokitansky–Küster–Hauser [MRKH] syndrome). Of these women, 7%–10% have functional endometrium within a uterus that is obstructed, a rudimentary uterine horn, or cavitated Müllerian remnants.

• Prevalence: Reported to vary from 1/4000 to 1/10,500 female births.

• Predominant Age: Generally not diagnosed until puberty, often following a delay of 2–3 years or more.

• Genetics: No genetic pattern (accident of development), although in some inbred communities there is a suggestion that an autosomal recessive gene is present.

Etiology and Pathogenesis

• Causes: Failure of the endoderm of the urogenital sinus and the epithelium of the vaginal vestibule to fuse and perforate during embryonic development. This process is normally completed by the 21st week of gestation. Patients with a congenital absence of the vagina but with a uterus present represent an extreme form of transverse vaginal septum.

• Risk Factors: None known.

Signs and Symptoms

• Vaginal obstruction (absence)

• Primary amenorrhea

• Cyclic abdominal pain

• Hematometra (if a uterus or uterine remnant is present)

Diagnostic Approach