Female hypospadias is a congenital anatomical defect in the form of shortening of the urethra and displacement of the urethra (meatus) in the vestibule of the vagina or on its anterior wall. With a minor anomaly, an asymptomatic course is possible. In other cases, pathology can manifest itself as pain, pain, burning in the genital area, painful urination, a feeling of overflow of the bladder, heaviness over the pubis, urinary incontinence. It is diagnosed by gynecological examination, video colposcopy. To correct the defect, non-surgical plastic surgery of the urethra, urethral transposition is usually performed.
Q54.8 Other hypospadias
Female hypospadias is a rare anomaly of the development of the posterior wall of the urethra, caused by a violation of the early stages of organogenesis of the urogenital tract. In the most severe cases of the disease, there is no urethra, the mouth of the bladder flows into the vagina. The low prevalence of female forms of hypospadias compared to male ones is explained by different mechanisms and timing of the occurrence of the defect.
In women, the affected area of the urethra corresponds to the posterior urethra of men and is formed from the urogenital sinus up to 8-12 weeks, when fetal development conditions are more stable. However, statistics may be underestimated due to the frequent absence of symptoms and underdiagnosis of the disorder associated with low awareness of health workers about the role of the anomaly in the occurrence of recurrent cystitis.
Unlike the male variant of the disease, the etiology of congenital ectopia of meatus in women remains practically unexplored. According to most experts in the field of urogynecology, the anomaly is the result of dysembriogenesis at 6-12 weeks of gestational age. The role of heredity in the violation of the embryogenesis of the female variant of hypospadias has not been established. The probable causes of deviations in the differentiation of the urogenital sinus, from which the lower part of the vagina and the female urethra are formed, are external damaging effects in the early stages of gestation — the influence of industrial poisons, medicines, radiation, infectious agents, for example, toxoplasmas.
It is possible that the formation of the urethra may be disrupted as a result of dishormonal conditions with excessive testosterone production by the mother or fetus. This theory is supported by the incompleteness of the organogenesis of the urogenital sinus in patients with congenital adrenogenital syndrome. Differentiation of the genitourinary sinus may also suffer when prescribing synthetic estrogens to a pregnant woman, as evidenced by the more frequent detection of hypospadias in women whose mothers took diethylstilbestrol during pregnancy.
Female hypospadias are a consequence of improper development of the urethral canal, in particular, its posterior wall. Under the influence of as yet unidentified factors, incomplete differentiation of the urogenital sinus occurs in the embryo in the first trimester of pregnancy, apoptosis and proliferation of the epithelium of the dorsal part of the urethra are disrupted. As a result, a defect of the urethrovagal septum and external genitalia is formed – the urethra shortens and opens on the front wall of the vagina or in the vestibule of the vagina. The localization and severity of the defect are determined by the time of the damaging effect. The later embryogenesis was disrupted, the less pronounced the ectopia of the external opening of the urethra.
The main criterion for the systematization of clinical forms of female hypospadias is the degree of ectopia of the urethral orifice, on which the severity of clinical symptoms directly depends. Such an approach is optimal for choosing the patient’s management tactics and the most appropriate way to correct the anomaly. Urologists-clinicians distinguish the following variants of pathology:
- Vestibular (partial) hypospadias. Due to the absence of part of the lower wall of the urethral canal, the meatus is displaced to the entrance to the vagina. It is the most favorable variant of the disease, becomes an accidental diagnostic finding when inflammatory changes occur on the part of the external genitals, does not require surgical treatment.
- Vestibulovaginal (subtotal) hypospadias. Due to the thinning of the urethrovaginal septum to 2-3 mm, the lower wall of the meatus and the upper part of the entrance to the vagina become a single formation. Usually, the disorder is combined with insufficiency of the bladder sphincter, provokes frequent urogenital inflammation and requires surgical correction.
- Vaginal (total) hypospadias. The most severe form of the anomaly, in which the female urethra is significantly shortened and opens directly into the vagina. In the most difficult cases, accompanied by constant urinary incontinence, the neck of the bladder is connected to the vagina. Significantly worsens the patient’s quality of life. Treatment is possible only by surgical methods.
Partial displacement of the urethral orifice is often asymptomatic. With insufficient hygienic care, high sexual activity, frequent change of sexual partners, local inflammatory changes may occur with burning, itching in the area of the external genitals, dysuric phenomena, vaginal discharge. A characteristic feature of female vestibulovaginal hypospadias is a significant severity of disorders and a clear connection of clinical symptoms of inflammation with sexual intercourse.
Usually, patients complain of the appearance of significant discomfort, pain, pain, burning when urinating, feeling of an overflowing bladder, soreness over the pubis a few hours after sex. Urinary incontinence is possible with physical exertion and excitement. Total hypospadias are manifested by constant leakage of urine from the vagina, maceration of the perineum and the vestibule of the vagina with pain, burning, and pain.
Most often, female hypospadias are complicated by urogenital inflammations — vulvitis, vulvovaginitis, colpitis, vaginal dysbiosis, urethritis, chronic and postcoital recurrent cystitis, less often — exo- and endocervicitis, pyelonephritis, even less often — urethral stenosis, detrusor-sphincter dissinergia, vaginal stones. The risk of developing inflammatory diseases is directly related to the degree of displacement of the urethral orifice. With vestibulovaginal and vaginal forms of hypospadias, subdepressive states, other emotional disorders, various types of female sexual dysfunctions are possible — decreased libido, frigidity, vaginismus.
With an asymptomatic course, an anomaly of the placement of the urethral orifice usually becomes an accidental finding during a planned gynecological examination in a women’s clinic. In any cases of frequent causeless inflammation of the external genitals, bladder and urethra, it is recommended to exclude hypospadias. Sufficient alertness about the possible presence of pathology allows you to quickly diagnose this disorder. The most informative methods of diagnosing female hypospadias are:
- Objective research. Examination on the chair gives primary objective information. Visually, the external urethra is displaced to the entrance to the vagina or is not determined. The genital mucosa may look reddened and macerated. In girls, the absence of the hymen or its splitting along the upper part, the gaping of the vagina is possible. In total hypospadias, meatus is detected using vaginal mirrors in the lower or middle third of the anterior vaginal wall.
- Colposcopic examination. Video colposcopy makes it possible to study in detail the features of the ectopic urethra and assess the condition of the vaginal mucosa in women with a vaginal form of the disorder. The study is usually carried out at the stage of preoperative preparation to clarify the anatomical features of the anomaly, to identify possible inflammatory and dysplastic processes in epithelial cells.
In some cases, for a detailed determination of the anatomical characteristics of the lesion, cystoscopy, radiopaque studies (urethrography, cystography) are additionally prescribed, for complex deformities — MSCT cystourethrography. Since hypospadias can be combined with skeletal abnormalities, other defects of the urinary and female reproductive systems, ultrasound of the pelvic organs, kidneys, radiography of the sacrum and lumbar spine are recommended.
The disorder is differentiated with urogenital sinus, hypermobility of the distal urethra, meatus dystopia in obesity, adductor muscle spasm, involutional vulvovaginal atrophy and perineal prolapse, vesicovaginal, uretero-vaginal, urethro-vaginal urogenital fistulas. Usually the patient is led by a urologist and an obstetrician-gynecologist, if there is a specialist — a urogynecologist.
The choice of medical tactics depends on the form of the disease. Women with vestibular ectopia of the meatus are shown dynamic observation, careful toilet of the genitals using soft hygiene products to reduce the risk of infection. In case of complicated course of partial hypospadias, detection of vestibulovaginal and vaginal variants of the disorder, modern minimally invasive methods and classical surgical interventions are recommended:
- Non-surgical plastic surgery of the urethra. The introduction of a biodegrading gel is indicated in nulliparous patients with vestibular hypospadias, frightening recurrent postcoital cystitis. The introduction of gel-like hyaluronic acid into the meatus area and along the distal third of the urethra allows you to shift the urethra to the clitoris and fix it by increasing the rigidity of tissues.
- Transposition of the urethra. During the operation, the ectopic meatus, together with the distal part of the urethra, is shifted to a new bed 1-1.5 cm closer to the clitoris. Transposition provides some lengthening of the urethra, is most effective in vestibulovaginal hypospadias in women who have given birth. In comparison with the non-surgical technique, persistent, rather than temporary results are observed.
The most difficult is the treatment of patients with total hypospadias and a deep location of the defect of the urethrovaginal septum, in which the vagina and bladder merge. In such cases, to restore the normal anatomy of the female genitourinary organs, plastic surgery of the vagina, urethra, and neck of the bladder is performed.
Prognosis and prevention
With partial and subtotal female hypospadias, the outcome is favorable. In patients with a slight displacement of the meatus, compliance with the rules of genital care allows to avoid inflammatory processes. The effect after the first administration of the biodegrading gel persists for at least 5-6 months, after which non-surgical plastic surgery can be repeated using more resistant forms of the drug. Radical surgical treatment for vestibulovaginal ectopia of the urethra gives a stable positive result in at least 80-85% of women.
A more serious prognosis is in patients suffering from total hypospadias. The effectiveness of surgical intervention, according to various data, ranges from 21 to 50%, while various complications are possible. Due to the ambiguity of the etiology, there is no primary prevention. Women with recurrent cystitis who refused surgery are recommended to take low doses of antibacterial drugs (nitrofurans, phosphonic acid derivatives).