Symptoms and signs

The majority of uterine anomalies are asymptomatic and are usually diagnosed in relation to complications of pregnancy. However, the presence of a vaginal septum may result in dyspareunia and postcoital bleeding.

The presence of a double uterus may also be established at routine vaginal examination, when a double cervix may be seen. The separation of the uterine horns is sometimes palpable on bimanual vaginal examination, but in most cases the uterus feels normal and there is a single cervix. When only one horn is present, the uterus may be palpable as lying obliquely in the pelvis. The abnormality of two uterine horns and one cervix is known as uterus bicornis unicollis (Fig. 16.2).

Partial atresia of one horn of the uterus, or a septate vagina resulting in obstruction to menstrual outflow from one horn of the uterus, may result in an unilateral haematocolpos and haematometra with retrograde spill of menstrual fluid. In this case, the patient may present with symptoms of dysmenorrhoea and will have a palpable mass arising from the pelvis.

The complications of pregnancy include:

• recurrent miscarriage: the role of congenital abnormalities in early pregnancy loss is unclear. For example, the incidence of uterine septa is the same in women with normal reproductive histories. However, there is an association with cervical incompetence, which may lead to mid-trimester miscarriage. This problem is usually associated with the subseptate uterus and is not common in the unicornuate uterus or in uterus bicornis bicollis

• premature labour

• malpresentation (Fig. 16.3)

• retained placenta.

Diagnosis and management

As many cases are asymptomatic, the diagnosis may arise only as a coincidental finding and requires no treatment or intervention. Where the diagnosis is suggested by the history, further investigation should include hysterography and hysteroscopy.

Surgical treatment

The role of surgical reconstruction of a double uterus in women with infertility is difficult to assess as there are no controlled studies demonstrating the benefits in pregnancy outcome. Consideration should be confined to women who have a history of recurrent miscarriage and where the abnormality is one of uterus bicornis unicollis, or there is a uterine septum.

The operation of plastic reconstruction of the uterus with unification of two uterine horns or excision of the uterine septum is known as metroplasty (Fig. 16.4). An incision is made across the fundus of the uterus between the uterotubal junctions, taking care not to involve the intramural portion of the tube. The cavities are then reunited by suturing the surfaces together in the anteroposterior plane. If there is a septum, it is simply divided by diathermy and the cavity is then closed by suturing the transverse incision in the anteroposterior plane. Surgery of this type is associated with postoperative infertility in some cases and with a risk of uterine rupture in subsequent pregnancy.

An alternative surgical management is to divide the septum by diathermy through a hysteroscope inserted through the cervix.

Endometrial polyps

Endometrial polyps (EPs) are localized outgrowths of the surface endometrium. They appear at any age from the early reproductive years through to the postmenopausal period. EPs are usually benign lesions, but have been implicated in subfertility, as removal of these lesions may improve rates of pregnancy and/or reduce pregnancy loss.

Signs

EPs are usually detected during the investigation for abnormal uterine bleeding and infertility. If the polyp protrudes through the cervix, it may be difficult to distinguish from an endocervical polyp (Fig. 16.5). EPs can be visualized on ultrasound. They are most easily detected in the secretory phase of the menstrual cycle when the non-progestational type of glands in the polyp stand out in contrast to the normal surrounding secretory endometrium. If their presence is suspected either clinically or on transvaginal ultrasound, further clarification can be undertaken by performing a transvaginal sonohysterography (Fig. 16.6) and/or office or inpatient hysteroscopy with or without directed excisional biopsy.

Benign tumours of the myometrium

Uterine fibroids (myomas) are the most common benign tumour of the female genital tract and are clinically apparent in around 25% of women. They are smooth muscle tumours that vary enormously in size from microscopic growths to large masses that may weigh as much as 30–40 kg. Fibroids may be single or multiple and may occur in the cervix or in the body of the uterus. There are three types of fibroids according to their anatomical location. The most common are within the myometrium (intramural fibroids). Those located on the serosal surface that extend outwards and deform the normal contour of the uterus are subserosal fibroids. These may also be pedunculated and only connected by a small stalk to the serosal surface (Fig. 16.7). Fibroids that develop near the inner surface of the endometrium and extend into the endometrial cavity, either causing a distortion of the cavity or filling the cavity if they are pedunculated are submucous fibroids. Cervical fibroids are similar to other sites in the uterus. They are commonly pedunculated but may be sessile and grow to a size that will fill the vagina and distort the pelvic organs.

The size and site of the tumour has a considerable effect on the symptoms. Subserosal fibroids can put pressure on adjacent organs and cause bowel and bladder symptoms. Submucosal fibroids can lead to HMB and infertility. Cervical fibroids have symptoms similar to other cervical polyps and, in addition, during attempted extrusion pain can occur as well as when there is degeneration of a fibroid or torsion of a pedunculated myoma.

The aetiology of fibroids is not known. They are more common in women who are Afro-Caribbean ethnicity, overweight, nulliparous, have polycystic ovary syndrome (PCOS), diabetes, hypertension and those with a family history of fibroids. Pregnancy causes enlargement and the menopause is associated with involution.

Adenomyosis

Adenomyosis is a condition characterized by the invasion of endometrial glands and stroma into myometrium with surrounding smooth muscle hyperplasia. It affects around 1% of women and until recently the diagnosis was most commonly made only after histological assessment of tissue removed at hysterectomy.

Pathology

The macroscopic appearances of the uterus are those of diffuse enlargement. Adenomyosis and myomas often coexist, although the uterus is rarely enlarged to the size seen in the presence of myomas. The posterior wall of the uterus is usually thicker than the anterior wall. The cut surface of the uterus presents a characteristic, whorl-like trabeculated appearance but occasionally circumscribed nodules with dark haemorrhagic spots can be seen in the myometrium.

Both transvaginal ultrasound and MRI show high levels of accuracy for the non-invasive diagnosis of moderate to severe adenomyosis, but MRI is the most sensitive technique (Fig. 16.8). The microscopic diagnosis is based on the presence of a poorly circumscribed area of endometrial glands and stroma invading the smooth muscle layers of the myometrium.

Symptoms

Tumours of the ovary that are less than 10 cm in diameter rarely produce symptoms. The common presenting symptoms include:

• Abdominal enlargement: in the presence of malignant change, this may also be associated with ascites.

• Symptoms from pressure on surrounding structures such as the bladder and rectum.

• Symptoms relating to complications of the tumour (Fig. 16.9); these include:

 Torsion: acute torsion of the ovarian pedicle results in necrosis of the tumour; there is acute pain and vomiting followed by remission of the pain when the tumour has become necrotic

 Rupture: the contents of the cyst spill into the peritoneal cavity and result in generalized abdominal pain

 Haemorrhage into the tumour is an unusual complication but may result in abdominal pain and shock if the blood loss is severe

 Hormone-secreting tumours may present with disturbances in the menstrual cycle. In androgen-secreting tumours the patient may present with signs of virilization. Although a greater proportion of the sex-cord stromal type of tumour (see below) are hormonally active, the commonest type of secreting tumour found in clinical practice is the epithelial type.

Signs

On examination, the abdomen may be visibly enlarged. Percussion over the swelling will demonstrate central dullness and resonance in the flanks. These signs may be obscured by gross ascites. Small tumours can be detected on pelvic examination and will be found by palpation in one or both fornices. However, as the tumour enlarges, it assumes a more central position and, in the case of dermoid cysts, is often anterior to the uterus. Most ovarian tumours are not tender to palpation; if they are painful the presence of infection or torsion should be suspected. Benign ovarian tumours are palpable separately from the uterine body and are usually freely mobile.

Pathophysiology

Aberrant endometrial deposits occur in many different sites (Fig. 16.10). Endometriosis commonly occurs in the ovaries (Fig. 16.11), the uterosacral ligaments and the rectovaginal septum. It may also occur in the pelvic peritoneum covering the uterus, tubes, rectum, sigmoid colon and bladder. Remote ectopic deposits of endometrium may be found in the umbilicus, laparotomy scars (Fig. 16.12), hernial scars, the appendix, vagina, vulva, cervix, lymph nodes and, on rare occasions, the pleural cavity.

Ovarian endometriosis occurs in the form of small superficial deposits on the surface of the ovary or as larger cysts known as endometriomas (Fig. 16.13) which may grow up to 10 cm in size. These cysts have a thick, whitish capsular layer and contain altered blood, which has a chocolate-like appearance. For this reason, they are known as chocolate cysts. Endometriomas are often densely adherent both to the ovarian tissue and to other surrounding structures.

These cysts are likely to rupture and, in 8% of cases, patients with endometriosis present with symptoms of acute peritoneal irritation.

The microscopic features of the lesions may be of endometrium (Fig. 16.14) that cannot be distinguished from the normal tissue lining the uterine cavity, but there is wide variation and, in many long-standing cases, desquamation and repeated menstrual bleeding may result in the loss of all characteristic features of endometrium. Underneath the lining of the cyst, there is often a broad zone containing phagocytic cells with haemosiderin. There is also a broad zone of hyalinized fibrous tissue. One of the characteristics of endometriotic lesions is the intense fibrotic reaction that surrounds them, and this may also contain muscle fibres. The intensity of this reaction often leads to great difficulty in dissection at the time of any operative procedure. The pathogenesis of endometriosis remains obscure. Sampson (1921) originally suggested that the condition was associated with retrograde spill of endometrial cells during menstruation and that some of these cells would implant under appropriate conditions in the peritoneal cavity and on the ovaries. This hypothesis does not account for endometriotic deposits outside the peritoneal cavity. An alternative theory suggests that endometrial lesions may arise from metaplastic changes in epithelium surfaces throughout the body.

Diagnosis

The initial assessment involves taking a detailed history of the duration and nature of pelvic pain with attention to the relationship to the menstrual cycle, the presence of bowel and bladder symptoms, the presence of dyspareunia and the impact of posture and movement on pain. Initial investigations may include urinalysis, screening for sexually transmitted infections and a transvaginal ultrasound scan. The ultrasound, if performed in expert hands, has a high degree of sensitivity and specificity for diagnosing ovarian endometriotic cysts and deep infiltrating bowel endometriosis, but is of little use in identifying the commoner types of peritoneal disease. As there is no consistently reliable non-invasive test, diagnostic laparoscopy by an experienced gynaecological endoscopist remains the best way of confirming or excluding most types of endometriosis.

Management

Endometriosis is a chronic disease that often requires life-long management. Medical treatment involves suppression of ovulation (and ovarian oestrogen secretion) and creating a steady hormone environment. Commonly used medication includes oral progestogens, progestogen subdermal implants and/or the levonorgestrel intrauterine system. Combined oral contraceptive pills are widely used, but it does not make logical sense to use an oestrogen-containing preparation in a woman with an oestrogen-sensitive disease. However, modern pills have a high progestogen-balance and may work well. These medications are all generally well tolerated and are initially preferable to alternatives, such as danazol, gonadotrophin-releasing hormone agonists and aromatase inhibitors. Medical therapy needs to be integrated with use of surgical therapies.

Surgical management of endometriosis usually involves complete excision of visible lesions. This is preferable to attempted diathermy ablation of the lesions, and reduces pain and improves quality of life in 67–80% of operated patients. To prevent recurrences, preventive medical therapy after surgery should always be considered, unless pregnancy is immediately desired. Deep infiltrating pelvic endometriosis that involves sigmoid colon or rectum requires a multidisciplinary approach with a colorectal surgeon. Laparoscopic resection of the rectovaginal endometritic nodule by a ‘shaving technique’ with reconstruction by expert laparoscopic gynaecologists is increasingly practised instead of bowel resection and anastomosis.

There is usually amelioration of endometriosis symptoms during pregnancy and there may sometimes be long-term improvement in pain after pregnancy. However, many women with endometriosis will experience recurrence of symptoms as soon as pregnancy and breast feeding have been completed.

Leiomyomata (discussed below) are the commonest structural lesions to cause heavy regular bleeding, although most women with fibroids do not experience abnormal loss. Endometrial carcinoma is rare under the age of 40 years and is more likely initially to cause irregular bleeding. Adenomyosis is usually associated with a uniformly enlarged tender uterus, HMB and dysmenorrhoea. Endometrial polyps are a common cause of HMB, but usually also cause IMB. Endometrial hyperplasia is a common structural lesion causing HMB, and may be associated with irregular, anovulatory cycles. It may be a premalignant condition. It may overlap with the disturbed ovulation discussed in the next section.

History and examination

An accurate history is essential to establish the pattern of bleeding and the duration of symptoms. Clinical estimation of the degree of blood loss is very subjective, although the presence of clots, the need to change sanitary protection at night and ‘flooding’ (the soiling of bedclothes or underwear during menstruation) are more likely to indicate significant bleeding. A recent change in the pattern of menstruation and associated pain are more likely to be associated with the development of structural pelvic pathology. Pain is typically associated with adenomyosis and chronic pelvic inflammatory disease. Endometriosis sometimes causes HMB (as well as pain). Structural surface lesions of the uterus and cervix more typically cause IMB and PCB. Endometrial malignancy is rare under the age of 40 years, but women with a history of diabetes, hypertension, PCOS and obesity are at increased risk of endometrial hyperplasia and carcinoma.

Women with heavy periods should have a general examination for signs of anaemia and thyroid disease and a pelvic examination including cervical smear, if indicated. The finding of a pelvic mass on pelvic examination is most likely to indicate the presence of uterine leiomyomata (fibroids) but may indicate a uterine malignancy, adenomyosis or ovarian tumour.

Investigations

A full blood count with platelets (and sometimes serum ferritin and serum transferrin receptor to assess iron status) is the only investigation needed before starting treatment, provided that clinical examination is normal. Patients should be referred for further investigation if:

Additional investigation is mainly to confirm or exclude the presence of pelvic pathology and in particular of endometrial malignancy. The main methods of investigation are ultrasound, endometrial biopsy, hysteroscopy and transvaginal ultrasound (with or without saline sonohysterography). Investigations for systemic causes of abnormal menstruation, such as a partial coagulation screen for the disorders of hemostasis – a coagulopathy – (of which mild von Willebrand Disease is the commonest of these causes associated with HMB) are only indicated if a screening history for coagulopathies is suggestive or in young women. Thyroid disease is a rare cause of HMB and investigation is only indicated if there are other features on examination or a previous history. Endometrial biopsy can be performed as an outpatient procedure either alone or in conjunction with hysteroscopy.

Hysteroscopy allows visualization of the uterine cavity using a 3 mm endoscope introduced through the cervix. It can be performed under general anesthetic or as an outpatient investigation using local anesthesia. Hysteroscopy with endometrial biopsy has largely replaced the traditional and unreliable blind D&C. Transvaginal ultrasound is of value in distinguishing the structural lesions of the genital tract. In premenopausal women, ultrasound-measured endometrial thickness will vary at different times of the menstrual cycle, but it is usually possible to visualize structural lesions such as polyps in the endometrial cavity.