[size=20px]An infant girl is discovered to have vaginal agenesis. The most frequently anomaly associated with vaginal agenesis is

 

A tethered spinal cord

 

B unilateral renal agenesis

 

C tracheoesophageal fistula

 

D sacral agenesis

 

E ventricular septal defect[/size]

B

B,

B

B

B

B

B

Correct answer

B unilateral renal agenesis

 

Vaginal agenesis, also known as the Mayer-Rokitansky-Küster-Hauser (MRHK) syndrome, occurs in 1 in 5000 to 10,000 girls. It results from failure of Müllerian development and is usually associated with cervical and uterine agenesis although up to ten percent may have at least a partial uterine remnant and up to 25% may have some residual Müllerian structures. These patients have a normal female karyotype and the majority have functional ovaries so they often do not present until their teenage years during evaluation for amenorrhea.

 

The most common associated anomalies are of the urinary system and approximately one third of patients with vaginal agenesis have renal anomalies. The single most common associated anomaly is unilateral renal agenesis. Ectopia of one or both kidneys and other urinary tract anomalies are less common. Skeletal anomalies are associated in approximately 12% of cases and cardiac anomalies are less common.

 

Musculoskeletal anomalies include those of the Klippel-Feil type (variable fusion of cervical vertebrae) found in six percent. Another rare variant includes the MURCS association (coined by Duncan) and this refers to Müllerian duct aplasia, renal aplasia and cervical somite dysplasia.

 

Treatments for vaginal agenesis range from neovaginal reconstruction to perineal dilation.