Genital Anomalies Without Intersex

Vaginal Agenesis

Vaginal agenesis is a rare abnormality (1 per 4000-1 per 10,000 females) due to failure of development of the Mullerian duct system (21). This is usually associated with absent corpus and cervix (Mayer-Rokitansky-Kuster-Hauser syndrome), but 7% to 10% will have a normal or rudimentary obstructed uterus. Extragenital, mainly uro-logical, and skeletal abnormalities are seen in 25% to 50%. The ovaries are normal (22).

Transverse Vaginal Septum

Transverse vaginal septa are very rare, with an incidence of 1 in 30,000 to 1 in 80,000 females (23). They may occur anywhere along the length of the vagina, with the

Vulva Anomaly
Figure 19 Androgenized female infant, inferior view. Source: Courtesy of Dr. John Cassey, Newcastle, New South Wales, Australia.

majority in the upper half. The atretic segment is usually less than 1 cm thick and may have a small perforation. The most likely cause is a defective development of the fusing Mullerian ducts. Presentation may be similar to imperforate hymen. There may be a higher genital tract abnormality.

Longitudinal Vaginal Septum

Longitudinal vaginal septum is caused by defective medial fusion of the Mullerian ducts and is typically associated with uterus didelphys (Fig. 20) (24). Septate vagina is distinguished from the much rarer double vagina, which has two separate muscle coats. There may be an obstructed hemivagina, which may be associated with ipsilateral renal anomalies.

Lower Vaginal Agenesis

Lower vaginal agenesis is due to failure in the development of the distal part of the vagina. The agenesis appears as a fibrous segment replacing the lower vagina. Patients present like those with an imperforate hymen. The upper vagina, cervix, corpus, tubes, and ovaries are normal.

Imperforate Hymen

The hymen is the residuum of the vaginal plate between the Mullerian and the mesonephric ducts, and urogenital sinus contributions to the vagina. Normally, this becomes perforated at 20 weeks of intrauterine life. A partial rim, usually posterior, is often left, which is ruptured at first intercourse to leave tags of mucosa, the car-unculae myrtiformes. In one in 2000 female births, the hymen remains imperforate.

Remains The Hymen

Figure 20 (See color insert) Septate vagina, inferior view. Source: Courtesy of Dr. John Cassey, Newcastle, New South Wales, Australia.

Imperforate hymen is usually diagnosed on routine examination of the neonate. It may present in the neonate with a lower abdominal swelling due to accumulated secretions or in the teenager with delayed menarche, urinary retention, or pain (Fig. 21). Severe endometriosis due to retrograde menstruation may complicate untreated imperforate hymen. Rarely, there may be associated lower urinary tract or anorectal congenital maldevelopments.

Cysts

Gartner's (mesonephric) duct cysts are formed from remnants of regressed meso-nephric ducts, and are the commonest cause of vaginal cyst. They may be unilateral or bilateral and are seen from the fornices to the introitus. Size is up to 10 cm in diameter and presentation is usually in infancy or in the reproductive age group.

Cysts of the canal of Nuck derive from the processus vaginalis, which is a peritoneal extension from the inguinal ring to the labium majus. It usually closes in utero. Its persistence may result in a peritoneal-lined cyst. This is the female equivalent of the indirect inguinal hernia of the male. It may show postural variation or present for the first time as a pneumatocele during laparoscopy.

Mullerian cysts are lined by ciliated or mucinous epithelium. These are usually small and are located in the lower vagina or around the introitus. They may be present at birth or expressed at a later age.

Paraurethral duct cysts may also be congenital or acquired. The congenital form has an incidence between one per 2000 and one per 7000 live births (25).

Vulvovaginal with Urological Abnormalities

Rarely, an ectopic ureter may drain into the vagina. Patients present with urinary incontinence that may be misdiagnosed as vaginal discharge. Urological investigation

Hymen Ring
Figure 21 (See color insert) Imperforate hymen in a teenager, inferior view. Source: Courtesy of Dr. John Cassey, Newcastle, New South Wales, Australia.

is required to determine the urinary tract anatomy. Epispadias is a rare malformation seen in the pediatric age group where there is a deficiency of the urethra anteriorly. Patients are incontinent. The clitoris is bifid and there is anterior separation of the labia. The urethra is short and patulous. Pubic bone separation will be seen on X ray or will be palpable. Hypospadias is abnormal location of the urethral meatus on the anterior vaginal wall. There may be incontinence, meatal stenosis, pooling of urine in the vagina, and occasional vaginal and uterine abnormalities. Rarely, Gartner's duct cysts, especially if in infants and/or of large size, are associated with ureteric abnormalities.

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