Female genital abnormalities are violations of the shape, size, localization, quantity, symmetry and proportions of the internal and external genitalia. The cause of occurrence is unfavorable heredity, intoxication, infectious diseases, early and late gestosis, hormonal disorders, occupational hazards, stress, poor nutrition, poor ecology, etc. The diagnosis is established on the basis of complaints, anamnesis, external examination, gynecological examination and the results of instrumental studies. Therapeutic tactics are determined by the features of the malformation.
ICD 10
Q52 Other congenital anomalies [malformations] of the female genital organs
General information
c are violations of the anatomical structure of the genital organs that occurred during intrauterine development. Usually accompanied by functional disorders. They make up 2-4% of the total number of congenital malformations. In more than 40% of cases, they are combined with abnormalities of the urinary system. Patients may also have malformations of the lower gastrointestinal tract, congenital heart defects and abnormalities of the musculoskeletal system. Treatment is carried out by specialists in the field of practical gynecology.
Causes
This pathology occurs under the influence of internal and external teratogenic factors. Internal factors include genetic disorders and pathological conditions of the mother’s body. These factors include all kinds of mutations and burdened heredity of unclear etiology. The patient’s relatives may have malformations, infertile marriages, multiple miscarriages and high infant mortality.
The list of internal factors that cause abnormalities of the female genital organs also includes somatic diseases and endocrine disorders in a pregnant woman. Some experts in their research mention the age of parents over 35 years old. Among the external factors indicate:
- bad habits: drug addiction, alcoholism;
- taking a number of medications;
- poor nutrition;
- bacterial and viral infections (especially in the first trimester of gestation);
- occupational hazards;
- household poisoning;
- adverse environmental conditions, ionizing radiation, being in a war zone, etc.
- Pathogenesis
The direct cause of abnormalities of the female genital organs are organogenesis disorders. The most severe defects occur with adverse effects in the early stages of gestation. The laying of paired Muller ducts occurs in the first month of gestation. At first they look like strands, but in the second month they transform into channels. Subsequently, the lower and middle parts of these channels merge, the rudiment of the uterus is formed from the middle part, and the rudiment of the vagina is formed from the lower part. At 4-5 months, the differentiation of the body and cervix occurs.
The fallopian tubes originating from the upper, non-merged part of the Muller ducts are laid at 8-10 weeks. The formation of pipes is completed by week 16. The hymen originates from the lower part of the merged ducts. The external genitalia are formed from the skin and the genitourinary sinus (anterior part of the cloaca). Their differentiation is carried out at 17-18 weeks of gestation. The formation of the vagina begins at week 8, its increased growth occurs at week 19.
Classification
Taking into account anatomical features , the following types of congenital defects of the female reproductive system are distinguished:
- Absence of an organ: complete – agenesis, partial – aplasia.
- Violation of the lumen: complete overgrowth or underdevelopment – atresia, narrowing – stenosis.
- Size change: decrease – hypoplasia, increase – hyperplasia.
An increase in the number of whole organs or their parts is called animation. Usually there is a doubling. Anomalies of the female genitals, in which individual organs form an integral anatomical structure, are called fusion. With an unusual localization of the organ, they talk about ectopia. According to the severity , there are three types of female genital abnormalities:
- The first is the lungs, which do not affect the functions of the genitals.
- The second is of moderate severity, which have a certain effect on the functions of the reproductive system, but do not exclude childbirth.
- The third is severe, accompanied by gross violations and incurable infertility.
Symptoms
Anomalies of the external genitalia
Malformations of the clitoris can manifest in the form of agenesis, hypoplasia and hypertrophy. The first two defects are extremely rare female genital abnormalities. Hypertrophy of the clitoris is found in congenital adrenogenital syndrome (congenital adrenal hyperplasia). Severe hypertrophy is considered as an indication for surgical correction.
Anomalies of the vulva, as a rule, are detected as part of multiple malformations, combined with congenital defects of the rectum and lower urinary tract, which is due to the formation of these organs from the common cloaca. There may be such female genital abnormalities as hypoplasia of the labia majora or vaginal overgrowth, combined or not combined with the overgrowth of the anus. Rectovestibular and rectovaginal fistulas are often found.
Anomalies of the hymen and vagina
Hymen atresia is a fairly common congenital anomaly of the female genital organs. Sometimes it occurs due to inflammation in childhood. It is diagnosed after the onset of menarche, when blood does not find an outlet and accumulates in the vagina. Accompanied by cramping pains. With the compression of neighboring organs, the pain becomes permanent. During an external examination of patients with this anomaly of the female genital organs, a protrusion of the hymen is detected. The color of the hymen is dark, with a bluish tinge, due to the translucence of blood.
Vaginal aplasia is another common anomaly of the female genital organs. It may be combined with congenital defects or underdevelopment of the ovaries, uterus and fallopian tubes. Depending on the state of other parts of the reproductive system, it is accompanied by true or false (in the presence of menstruation) amenorrhea.
Vaginal atresia usually develops after birth, but it can also occur due to adhesive inflammation in the prenatal period. Treatment – as with aplasia. Another anomaly of the female genital organs is a congenital vaginal septum. Its length and thickness may vary, the partition may be complete or incomplete. In some cases, the formation of two vaginas is observed. As a rule, pathology is combined with partial or complete duplication of the uterus.
Uterine abnormalities
Malformations of the uterus are the most common abnormalities of the female genital organs. Hypoplasia of the uterus is often found. It is possible both to reduce the body and neck while maintaining proportions, and to reduce the body of the uterus in combination with the lengthening of the neck. It can be combined with hyperanteflexia (inflection of the uterus anteriorly) or hyperretroflexia (inflection of the uterus posteriorly). This anomaly of the female genital organs is accompanied by amenorrhea or algodismenorrhea. Therapeutic tactics are determined depending on the degree of hypoplasia. With algodismenorrhea, pain usually decreases after correcting the position of the uterus.
Among the female genital abnormalities that have arisen due to a violation of the fusion of the Muller channels are partial and complete doubling of the uterus and vagina. Complete doubling is a rare pathology. Incomplete doubling is more often detected: fusion of the outer walls of the uterus, developed uterus and vagina on the one hand and rudimentary ones on the other, two uterus with atresia or aplasia of the vagina in one of the queens, as well as various variants of a two–horned uterus. The two-horned uterus is the result of incomplete fusion of the middle part of the Muller channels.
The uterine cavity can be divided completely or partially, which causes a wide variety of anatomical variants of this anomaly of the female genital organs. There is no doubling of the vagina. Separate bodies and cervixes may be detected, a separate uterine body without doubling the cervix, a uterus with a full or partial septum, or a saddle-shaped uterus divided in the fundus area. There are also cases of a two-horned uterus without a lumen. With this anomaly of the female genital organs, two thick continuous cords are located in place of the uterus, connecting with a normal or divided by a septum vagina.
The one-horned uterus arises as a result of the underdevelopment of one Muller canal. The underdeveloped half of the uterus is a rudimentary horn without a cavity or a horn with a cavity connecting or not connecting to the uterine cavity. In the absence of communication with the main cavity, menstrual blood accumulates in the horn.
Anomalies of the ovaries and fallopian tubes
Quite common anomalies of the fallopian tubes are congenital obstruction and various variants of underdevelopment of the tubes, usually combined with other signs of infantilism. Among the female genital abnormalities that increase the risk of ectopic pregnancy are asymmetric fallopian tubes. Such malformations as aplasia, complete doubling of pipes, splitting of pipes, blind passages and additional holes in pipes are rarely detected.
Ovarian abnormalities usually occur with chromosomal abnormalities, combined with birth defects or impaired activity of other organs and systems. Ovarian dysgenesis is observed in Shereshevsky-Turner syndrome and Klinefelter syndrome. Agenesis of one or both gonads and complete doubling of the ovaries are among the extremely rare female genital abnormalities. Ovarian hypoplasia is possible, usually combined with underdevelopment of other parts of the reproductive system. Cases of ovarian ectopia and the formation of additional gonads adjacent to the main organ are described.
Diagnostics
The frequent combination of female genital abnormalities with other birth defects necessitates a thorough comprehensive examination of patients with this pathology. Congenital malformations of the external genitalia are usually determined at birth. Anomalies of the internal genitalia can be detected during menarche, during a planned gynecological examination, when contacting a gynecologist with complaints about a violation of the functions of the reproductive system (for example, infertility) or during gestation. The clinical algorithm includes:
- examination of the patient in a chair;
- ultrasound of reproductive organs;
- hysteroscopy;
- hysterosalpingography.
Treatment
Treatment of vulva and vaginal abnormalities
Treatment of abnormalities of vulva development is operative – labiaplasty, vaginal plastic surgery, excision of the fistula.In case of vaginal atresia, augmentation is performed, plastic surgery using a skin flap, a section of the pelvic peritoneum or large intestine. Treatment of hymen atresia consists in dissecting the hymen, removing blood, suturing the dissected edges to prevent re-fusion. With an incomplete septum interfering with the birth of the fetus, dissection is performed. In other cases, the tactics are determined taking into account other female genital abnormalities.
Treatment of uterine abnormalities
The tactics of treatment of female genital abnormalities are determined individually. With complete doubling and sufficient development of at least one pair of organs, treatment is not required. If there is an accumulation of blood in the uterus, devoid of a vagina, or in a rudimentary horn that does not communicate with the uterus, surgical intervention is necessary. In severe cases, a hematometer is an indication for removal of the uterus (hysterectomy). Pregnancy in the rudimentary horn is considered as a variant of ectopic pregnancy and is also subject to surgical treatment.
In case of female genital abnormalities that prevent the bearing of a child, metroplasty is performed. If it is impossible to form a uterus capable of bearing a fetus and with chronic miscarriage of pregnancy, the option of surrogate motherhood should be considered. In such cases, artificial insemination (IMSI or ICSI) of the patient’s own egg is produced by her husband’s sperm or donor sperm. After the completion of the embryological stage, the embryos are transplanted into the uterus of a specially selected surrogate mother. Due to the presence of anomalies in the patient, which may be hereditary, it is advisable to carry out its preimplantation diagnosis before transferring the embryo into the uterus.
Treatment of ovarian abnormalities
The development of pregnancy in an abnormal fallopian tube is an indication for an emergency tubectomy. With normally functioning ovaries and abnormal tubes, pregnancy is possible by in vitro fertilization of an egg taken during puncture of the follicle. In cases of ovarian abnormality, it is possible to use reproductive technologies with fertilization of a donor egg or transfer of a donor embryo into the uterus of a patient.
