Cervical Agenesis

Cervical agenesis is congenital absence of part or all of the cervix, resulting from failure of canalisation or development of the Müllerian ducts. It is rare (about 1 in 80,000 to 100,000 women). Types: complete agenesis (no cervix, uterus present and normal or small), cervical dysgenesis (a fibrous cord or segment replaces the cervix), and cervical atresia.

The uterus is usually normal and has functioning endometrium, so menstrual blood accumulates behind the obstruction (haematometra), flows retrogradely into the tubes and peritoneum, and produces endometriosis and haematosalpinx. The vagina may be normal, partially absent in its upper third or absent. Associated anomalies include renal agenesis, ectopic kidney, and skeletal anomalies.

• Primary amenorrhoea with normal pubertal development, followed by cyclical, progressively severe lower abdominal pain starting at 12 to 14 years.
• A pelvic mass (haematometra), urinary retention or frequency, dysuria and constipation.
• Dysmenorrhoea, fever and sepsis if the retained blood becomes infected (pyometra).
• On examination: normal secondary sexual characteristics and external genitalia; a blind ending or normal vagina without a palpable cervix; the uterus may be palpable on rectal examination as a tender mass.
• Complications: endometriosis, pelvic adhesions, tubo ovarian abscess, and infertility.

• Pelvic ultrasound shows a distended uterine cavity filled with echogenic blood and a normal or dilated vagina, with the absence of cervical stroma (cervical tissue cannot be identified).
• MRI pelvis is the key investigation: shows the uterus, the presence or absence of cervical tissue, the length of the vaginal segment, and the myometrium, and shows haematosalpinx and endometriosis.
• Karyotype (46,XX) and hormonal assessment to exclude other causes of primary amenorrhoea.
• Renal ultrasound.

Management is surgical and complex; it should be done at a specialist centre.

• Initial symptom control: continuous hormonal menstrual suppression (norethisterone 5 to 15 mg daily, medroxyprogesterone 10 mg daily, or a gonadotrophin releasing hormone analogue such as leuprolide 3.75 mg intramuscularly monthly) to stop menstruation and relieve pain, while the patient is counselled and surgical planning is done.
• Hysterectomy: historically the treatment of choice and still the safest definitive option, particularly when the cervix is absent and the tissue is poor, as attempts at reconstruction have a risk of repeated stenosis, sepsis and death. It removes the source of pain and endometriosis but results in loss of fertility. Ovaries are preserved. Often chosen when there is complete agenesis with an absent vagina.
• Reconstructive surgery (uterovaginal anastomosis or canalisation): for patients who want to preserve fertility. Techniques: laparoscopic or vaginal creation of a canal from the uterine cavity into the vagina using a stent (Foley catheter, silicone tube or custom made), with creation of a neovagina if absent (Vecchietti, McIndoe or sigmoid vaginoplasty). The uterine cavity is joined to the vagina (uterovaginal anastomosis) over a stent, left for 3 to 6 months. Complications are stenosis, recurrent obstruction (about 30 to 50 percent), sepsis and need for hysterectomy. Reported pregnancies are rare and need caesarean delivery.
• Uterus preserving success depends on the presence of a cervical remnant; with a cervical remnant, the success is higher.
• Peri operative antibiotics (cefazolin 2 g, metronidazole 500 mg), and extended coverage if infection.
• Long term follow up for endometriosis, for stenosis, and for sexual function; psychological support; in women who keep the uterus, repeated assessment is needed.
• Fertility alternatives: oocyte retrieval and in vitro fertilisation with gestational surrogacy, which provides genetic children without reconstructive surgery.