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Abnormalities of female genital tract and intersex disorders

Congenital absence of the vagina

Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH or Rokitansky Syndrome) occurs in 1:5000 female births and may be associated with renal tract anomalies (15–40%) or anomalies of the skeletal system (10–20%).

Girls have spontaneous development of secondary sexual characteristics as ovarian tissue is present and functions normally. The external genitalia have a normal appearance but the vagina is short and blind ending. Hormone treatment is not required as ovarian oestrogen output is normal and ovulation will take place. However, the only route to biological parenthood will be through using a surrogate mother following ovarian stimulation and oocyte (unfertilized egg cell) retrieval. This will clearly require careful discussion with all concerned.

The vaginal dimple can vary in length from just a slight depression between the labia to up to 5–6 cm. Vaginal dilators, made of plastic or glass, are used to stretch the vaginal skin and the patient is encouraged to apply pressure for 15 minutes twice daily with successive sizes of dilator. An adequately sized vagina is usually formed by six months but this may take longer and long-term use of dilators may be required, depending upon the frequency of sexual doxycycline Canada intercourse. A number of surgical approaches have been employed to create a neo-vagina, although are rarely required.

Diagnosis is often not made until puberty or sometimes not until commencement of sexual activity. It can usually be made without the need for a laparoscopy. Sometimes, however, an ultrasound scan will reveal the presence of a uterine remnant (anlagan), which is usually small and hardly ever of sufficient size to function normally. If there is active endometrial tissue within the uterine anlagan, the patient may experience cyclical pain and the anlagan should be excised (usually laparoscopically).

Fusion abnormalities of the vagina

Longitudinal fusion abnormalities

These may lead to a complete septum (dividing wall) that may be associated with two complete uterine horns with two cervices or a partial septum causing a unilateral obstruction. Excision is required both to prevent retention of uterine secretions and to permit sexual intercourse.

Transverse fusion abnormalities

These usually present with primary amenorrhoea and require careful assessment before surgery. The commonest problem is an imperforate hymen in which a cyclical lower abdominal pain combines with a visible haematocolpos and a bulging purple/blue hymen with menstrual secretions stretching the thin hymen.