“Anomalies of development of the female genital organs. Anomalies in the development of the genital organs
Anomalies of the vulva and hymen. A continuous hymen can be detected mainly during puberty. When the first menstruation appears and there is no natural outlet, menstrual blood accumulates in the vagina, hematocolpos, hematometra and sometimes even hematosalpinx are formed. The pathological process is clinically manifested by the occurrence of pain in those places where blood accumulates, as well as the absence of menstruation.
Anomalies of vaginal development. Complete absence (agenesis) - in the place where the entrance to the vagina should be, you can see a small depression of about 2-3 cm. The absence of part (aplasia) of the vagina occurs in cases where the formation of the vaginal tube is disrupted. Partial or complete occlusion (atresia) of the vagina develops due to an inflammatory process experienced in utero or immediately after birth. The vagina in this pathology has a septum located transversely or longitudinally. This can form a barrier to the passage of menstrual blood out. Clinically, vaginal malformations can be manifested by the absence of menstruation, as well as pain in the lower abdomen due to the accumulation of blood inside the genital organs, the impossibility of sexual intercourse or difficulties with it.
Anomalies of uterine development. They are observed in 1% of women. From the point of view of clinical manifestations, duplication of the uterus and vagina is of great interest. One and the other reproductive apparatus are separated by a transverse fold of the peritoneum, while they function autonomously. With this pathology, one ovary is located on each side. Over time, puberty occurs, the menstrual cycle occurs in the reproductive system in all its parts. Sexual function is not impaired and pregnancy is possible alternately in each of the uteruses. Sometimes duplication of the uterus and vagina is possible. With such disorders, the genital organs are in closer contact. One uterus may be inferior in functionality and size to another. Often on the side of underdevelopment there may be complete fusion of the internal os of the uterus or hymen, which delays menstrual bleeding.
Incomplete fusion of the embryonic genital rudiments can cause a developmental anomaly in which a double uterus has a common vagina, double cervix or body. A developmental anomaly is often possible, in which a bicornuate or saddle-shaped uterus is formed. This is possible due to the incorrect position of the fetus (oblique or transverse), which disrupts the physiological course of pregnancy, and subsequently childbirth.
Anomalies in the development of the fallopian tubes. Sometimes the fetus may develop asymmetrical fallopian tubes. In this case, the length of the fallopian tube on the right is 5 mm longer than on the left. If embryogenesis is disrupted, the difference in the length of the fallopian tubes can be 35-47 cm. Often, due to this pathology, an ectopic pregnancy can occur. Sometimes intrauterine infectious processes can cause congenital obstruction of the fallopian tubes. Sometimes the fetus may have underdevelopment or duplication of two or one fallopian tubes. Malformations of the fallopian tubes can often be combined with abnormal development of the uterus. Such pathological processes can cause infertility and tubal pregnancies.
Anomalies of ovarian development. In healthy women there may be a functional and anatomical predominance of the ovary on the right. With pathology during pregnancy, the fetus may experience unilateral or bilateral agenesis. Such defects are possible in the complete absence of ovaries (Shereshevsky Turner syndrome), as well as congenital hypoganadism, which are accompanied by ovarian hypofunction.
Ovarian developmental abnormalities
Agenesis (aplasia) of the ovary (syn.: agonadism) - absence of ovaries. Anovaria is the absence of two ovaries.
Ovarian hyperplasia - early maturation of glandular tissue and its functioning.
Ovarian hypoplasia is underdevelopment of one or both ovaries.
Ovarian cysts can be single or multiple, unilateral or bilateral. Occurs in approximately 1 case in 2500 newborns. They are usually functional cysts caused by stimulation of the fetal ovary by maternal hormones.
Ovarian retention is the incomplete descent of the ovary along with the uterus into the pelvis.
Ectopic ovary - displacement of the ovary from its usual place in the pelvic cavity. It may be located in the thickness of the labia. at the entrance to the inguinal canal, in the canal itself.
Accessory ovary - occurs in 4% of cases near the main ovaries in the folds of the peritoneum. Differs in small size. Occurs when an additional anlage of the sex gland is formed in the genital folds.
A bifurcated ovary is an unusual shape of the ovary as a result of nonunion of the Wolffian body.
Abnormalities of the uterus
complete absence of the uterus due to its non-laying, is rare
Rice. 301. Congenital absence of the uterus (Kupriyanov V.V., Voskresensky N.V.. 1970)
Agenesia uterine cervix - absence of the cervix, a rare anomaly. It can be an isolated defect or combined with vaginal agenesis and a double uterus.
Uterine aplasia is the congenital absence of the uterus. The uterus usually looks like one or two rudimentary muscle ridges (Fig. 302). The frequency ranges from 1:4000-5000 to 1:5000-20000 newborn girls. Often combined with vaginal aplasia. Possible combination with developmental anomalies of other organs: spinal column (18.3%), heart (4.6%), teeth (9.0%), gastrointestinal tract (4.6%), urinary organs (33.4 %). There are 3 possible options for aplasia: 
Rice. 302. The structure of internal organs with aplasia of the uterus and vagina (Adamyan JI. V., Kulakov V. I., Khashukoeva A 3., 1998)
a) the rudimentary uterus is defined as a cylindrical formation located
placed in the center of the small pelvis, on the right or left, measuring 2.5-3.0x2.0-1.5 cm;
b) the rudimentary uterus looks like two muscle ridges located parietally
in the pelvic cavity, measuring 2.5x1.5x2.5 cm each;
c) muscle ridges (rudiments of the uterus are absent).
Uterine atresia is an overgrowth of the uterine cavity, usually observed in the cervical region, while the body of the uterus is connected to the vagina only by a tissue cord without a lumen. Combined with atresia of the vagina and tubes.
Hypoplasia of the uterus (syn.: uterine infantilism) - the uterus is reduced in size, has an excessive anterior bend and a conical neck. There are 3 degrees:
a) embryonic uterus (syn.: rudimentary uterus) - an underdeveloped uterus (up to 3 cm long), not divided into a cervix and body, sometimes without a cavity;
b) infantile uterus - a uterus of reduced size (3-5.5 cm long) with a conical elongated neck and excessive anteflexion;
c) teenage uterus - length 5.5-7 cm.
Hemiatresia of the uterus is the fusion of one half of the double uterus.
Duplication of the uterus - occurs during embryogenesis as a result of the isolated development of the paramesonephric ducts, while the uterus and vagina develop as a paired organ (Fig. 303, 304). There are several doubling options: 
a) double uterus (uterus didelphys) - the presence of two separate one-horned uteruses, each of which is connected to the corresponding part of the bifurcated vagina, is due to the non-fusion of correctly developed paramesonephric (Müllerian) ducts along their entire length. Both reproductive organs are separated by a transverse fold of the peritoneum. There is one ovary and one fallopian tube on each side.
b) doubling of the uterus (uterus duplex, synonym: bifurcation of the body of the uterus) - in a certain area of the uterus and vagina are in contact or united by a fibromuscular layer, usually the cervix and both vaginas are fused. 
There may be options: one of the vaginas may be closed, one of the uteruses may not have communication with the vagina. One of the uteruses is usually smaller in size and its functional activity is reduced. On the part of the reduced uterus, aplasia of the vaginal part may be observed. Fig. 304. Double uterus
OR cervix" (Kupriyanov V.V., Voskresensky N.V., 1970)
c) uterus bicornis bicollis - the uterus is externally bicornuate with two cervixes, but the vagina is divided by a longitudinal septum.
Two-horned uterus (uterus bicornus) - division of the body of the uterus into 2 parts at the intersection of one cervix, without division of the vagina (Fig. 305, 306). Division into parts begins more or less high, but in the lower parts of the uterus they always merge. The division into 2 horns begins in the area of the uterine body in such a way that both horns diverge in opposite directions at a greater or lesser angle. With pronounced splitting into two parts, two one-horned uteruses are determined. Often it consists of two rudimentary and unfused horns that have no cavities. Formed at 10-14 weeks of intrauterine development as a result of incomplete or very low fusion of the paramesonephric (Müllerian) ducts. According to the degree of severity, there are 3 forms:
a) full form - the rarest option, the division of the uterus into 2 horns begins almost at the level of the uterosacral ligaments. Hysteroscopy shows that two separate hemicavities begin from the internal pharynx, each of which has only one orifice of the fallopian tube;
b) incomplete form - division into 2 horns is observed only in the upper third of the uterine body; As a rule, the size and shape of the uterine horns are not the same. Hysteroscopy reveals one cervical canal, but closer to the fundus of the uterus there are two hemicavities. In each half of the uterine body, only one orifice of the fallopian tube is noted;
c) saddle-shaped (syn.: saddle-shaped uterus, uterus arcucitus) - division of the body of the uterus into 2 horns only in the fundus with the formation of a small depression on the outer surface in the form of a saddle (the fundus of the uterus does not have the usual rounding, is pressed or concave inward). During hysteroscopy, both mouths of the fallopian tubes are visible, the bottom seems to protrude into the uterine cavity in the form of a ridge.
One-horned uterus (uterus unicomus) is a form of the uterus with partial reduction of one half. The result of atrophy of one of the Müllerian ducts. A distinctive feature of the one-horned uterus is the absence of its bottom in the anatomical sense. In 31.7% of cases it is combined with developmental anomalies of the urinary organs. Occurs in 1-2% of cases among malformations of the uterus and vagina (Fig. 307, 308).
Divided uterus (syn.: bifid uterus, intrauterine septum) - observed when there is a septum in the uterine cavity, making it two-chambered. Frequency - 46% of cases of the total number of uterine malformations. The intrauterine septum can be thin, thick, on a wide base (in the form of a tributary). There are 2 forms:
a) uterus septus - full form, completely divided uterus;
b) uterus subseptus - incomplete form, partially divided uterus, septum length ¦ 1-4 cm.
Rice. 305. Anomalies of the uterus (Patten V. M., 1959):
a - uterus subseptus unicollis; b - uterus septus duplex; c - uterus septus duplex in combination with a double vagina; d - cervical atresia; d - uterus bicomus unicollis; d - uterus bicornus septus; g - uterus didelphys in combination with a double vagina; g - uterus bicornus unicollis with one isolated rudimentary vagina
Rice. 306. Spiral X-ray computed tomogram.
Bicornuate uterus (axial plane) (Adamyan JT. V., Kulakov V. I., Khashukoeva A. 3., 1998): 1 - bladder; 2 - right horn of the uterus; 3 - left horn of the uterus
Rice. 307. One-horned uterus (Adamyan JT. V., Kulakov V. I., Khashukoeva A. 3., 1998):
a - rudimentary horn communicating with the cavity of the main horn; b - rudimentary closed horn; c - rudimentary horn without cavity; d - absence of a vestigial horn
Rice. 308. Unicornuate uterus with a functioning rudimentary horn (Adamyan JI V., Kulakov V.I., Khashukoeva A. 3., 1998): a - hematometra of the rudimentary horn; b - rudimentary horn removed
Retrodeviation of the uterus is a position of the uterus in which its body is deviated posteriorly, the cervix is deviated anteriorly (retroversion), and the angle between them is open posteriorly (retroflexion). 
Rice. 309. Variants of the position of the uterus (Kupriyanov V.V., Voskresensky N.V., 1970): a - three degrees of retroversio; b - anteversio; c - retroflexio; g - anteflexio. The dotted line indicates the normal position of the uterus
Transposition of the uterus is a change in its normal position (Fig. 309). Several forms are possible:
a) retroversio - posterior tilt,
b) retroflexio - rear bend,
c) retropositio - rear position,
d) lateropositio - lateral position,
e) anteropositio - anterior position.
Anomalies of the fallopian tube
Fallopian tube atresia is a blockage of the lumen of the fallopian tube; atresia can be unilateral or bilateral, local or total. The result of congenital tubal obliteration.
The openings of the fallopian tubes are accessory - found close to the abdominal opening of the tube.
Taylor syndrome (Taylor syndrome, synonym: congestiopelvica, oophoritis sclerocystica, hyperaemia ovariomm, congestio-flbrosis-syndromus) - congenital underdevelopment of the fallopian tubes: the tube is short, not reaching the uterosacral ligaments, short fimbriae; in the pelvic organs, especially in the uterus and fallopian tubes, venous stasis is observed, which later turns into fibrosis.
Duplication of the fallopian tube - can be on one or both sides.
Lengthening of the fallopian tube - may be accompanied by kinks and twisting of the tubes.
Shortening of the fallopian tube is the result of its hypoplasia. If the abdominal opening does not reach the ovary, it is unlikely that the egg will enter the tube.
The accessory ducts of the fallopian tubes are narrow blind protrusions of the wall or microdiverticula.
The behavior of medical personnel in the delivery room significantly affects parents and their relationship with the child. The newborn should be referred to as “your baby” or “your little one” without reference to gender. Based on the initial examination, you cannot name the gender or make any assumptions. An infant with genital anomalies can become a full-fledged member of society. You should not be ashamed of genital abnormalities. It is not always immediately clear what to do next, but the cooperation of family and doctors will allow the best decision to be made.
Currently, there has been significant progress in diagnosis, understanding of pathology, development of surgical treatment methods, understanding of psychological problems and needs of patients. The terms intersex, pseudohermaphroditism, hermaphroditism, and gender reassignment are controversial, stigmatizing, and confusing to parents. According to new terminology, these diseases are called “disorders of sexual development.” Sexual development disorders are congenital diseases in which there are abnormalities of chromosomal, gonadal or anatomical sex.
The child must be examined in the presence of the parents to demonstrate the exact abnormalities of the genitals. The genitalia of both sexes develop from the same embryonic structures and both overdevelopment and underdevelopment are possible. The abnormal appearance can be corrected and the child can be raised as a boy or girl. It is important to encourage parents not to name or register their child until the gender is determined.
Normal development of the genital organs
Undifferentiated gonadal tissue is already present in a 6-week fetus, and it can develop in either a male or female pattern. The active process of male differentiation is influenced by the presence or absence of genetic or hormonal influences. Violation of differentiation according to the male type leads to masculinization or, in the case of the female genotype, virilization leads to false female hermaphroditism (intersex).
The sex-determining region of the gene located on the short arm of the Y chromosome (SRY) is responsible for male differentiation. Under the influence of this region, the formation of a testicle from an undifferentiated gonad occurs.
Testosterone produced by the testes stimulates the maturation of the Wolffian structures (effurent ducts, epididymis, and seminal vesicles), and anti-Müllerian hormone suppresses the Müllerian structures (fallopian tubes, uterus, and upper vagina). Masculinization of the genital structures occurs under the influence of the peripheral conversion of testosterone to dihydrotestosterone in the external genitalia. The main part of differentiation into the male type ends before 12 weeks of pregnancy. The growth of the penis and the descent of the testicles into the scrotum occurs throughout pregnancy.
In the absence of SRY, female differentiation occurs.
Clinical signs in a newborn with suspected sexual development disorder
Obviously male
- Severe hypospadias with separation of the scrotal sacs.
- Hypospadias with undescended testicles.
- Both nonpalpable testes with or without micropenis in a full-term newborn.
Obviously female
- Shortened vulva with a single opening.
- An inguinal hernia containing a palpable gonad.
- Clitoral hypertrophy.
Uncertain gender
- Genitalia of indeterminate (intermediate) type.
Causes of genital abnormalities in newborns
The easiest way to classify them is by the histological structure of the gonads and the prognosis regarding fertility.
| Gonad | Causes of abnormalities in the structure of gonadal tissue |
| Ovary |
|
| Testicle |
|
| Ovary and testicle | True hermaphroditism |
| Gonadal dysgenesis |
|
| Other |
|
Swyer's syndrome: female phenotype with 46, XY karyotype, no gonads that stimulate puberty.
Denis-Drash syndrome: a rare disease consisting of the triad of congenital nephropathy, Wilms tumor and genital anomalies, resulting from a mutation in the Wilms tumor gene (WT1), located on chromosome 11 (lip 13).
Smith-Lemli-Opitz syndrome: a rare disease caused by a defect in cholesterol synthesis, with an autosomal recessive mode of inheritance. Affected individuals have multiple congenital anomalies: intrauterine growth restriction, dysmorphic facial features, microcephaly, low-set ears, cleft palate, genital anomalies, syndactyly, mental retardation.
Captomelic dwarfism (twisted limbs): the mode of inheritance is autosomal dominant, the disease is caused by the S0X9 mutation (the sex-determining region of the gene associated with the Y chromosome, located on the long arm of chromosome 17). Manifestations: short stature, hydrocephalus, anterior curvature of the femur and tibia, and poor masculinization.
Clinical assessment
A thorough obstetric history should be obtained to identify maternal endocrine disorders and/or drug or hormonal exposure. Family history interviews look for unexplained infant deaths, abnormal genital development, or infertility and determine the degree of relationship. This may indicate autosomal recessive inheritance.
The penis is examined, the length of the fusion of the urogenital sinus and the position of the urethral opening are determined. Note the abundance and rugosity of the labioscrotal folds and attempt to palpate any gonads in these folds or the groin area. This requires considerable patience.
Accurate diagnosis based on physical examination alone is not possible because the appearance of the genitals can vary greatly for the same clinical condition. The only conclusion that can be drawn if palpable gonads are present is that the infant is not genetically female and does not have congenital adrenal hyperplasia.
Research methods
The most common cause of genital abnormalities in infants is congenital adrenal hyperplasia. Therefore, all infants with signs of virilization and non-palpable gonads require biochemical screening. The vast majority of cases of congenital adrenal hyperplasia have 21-hydroxylase deficiency (95%). An increase in 17-hydroxyprogesterone levels confirms congenital adrenal hyperplasia due to 21-hydroxylase deficiency. It is necessary to monitor the infant's electrolyte levels, since hyponatremia and hyperkalemia often appear after 48 hours and require adequate treatment (treatment of hypovolemia and vascular insufficiency, administration of sodium and hydrocortisone).
The karyotype is immediately determined (chromosomal analysis). Fluorescence hybridization of the Y chromosome is performed within 48 hours in most laboratories, but detailed karyotype analysis often takes 1 week (with G-banding of chromosomes).
An experienced ultrasound technician can identify the ovaries and uterus relatively quickly, confirming female gender.
If the gonads are palpable and the screening result is negative for congenital adrenal hyperplasia, further evaluation is necessary. A genitogram (preferably by a pediatric radiologist experienced in diagnosing urologic abnormalities in women) is performed to identify the vagina, fallopian canal, and fallopian tubes or efferent ducts. Biochemical studies are required to determine defects in testosterone biosynthesis, 5a-reductase activity, or androgen insensitivity. Such an examination is performed at a tertiary center that has experience in diagnosing such conditions.
Setting the floor
Based on the following considerations:
- fertility potential;
- the possibility of full sexual function;
- endocrine status;
- potential for malignant transformation;
- the possibility of surgical correction and the choice of timing of the operation.
Long-term treatment of such children requires extensive examination with the participation of doctors:
- pediatrician/pediatric endocrinologist;
- pediatric urologist;
- psychologist;
- genetics;
- gynecologist (depending on the underlying disease).
The content of the article
Agenesis, hypoplasia, hypertrophy of the clitoris; atresia of the hymen, fusion of the hymen; aplasia of the labia and hymen. The clinical picture and diagnosis of anomalies of the female genital organs is difficult due to the fact that a number of defects do not manifest themselves in any way, but first make themselves felt only during puberty.
Detection of abnormalities of the genital organs has three peaks: at birth, during puberty and when trying to become sexually active. The leading, and sometimes the only symptom is menstrual dysfunction in the form of amenorrhea or polymenorrhea. These manifestations are due to the absence or obstruction of the outflow of menstrual blood from the incorrectly formed genital tract.
A fairly common symptom that appears during puberty is abdominal pain. The pain intensifies monthly, sometimes accompanied by loss of consciousness, nausea, and dysuric symptoms. The pain symptom is associated with a violation of the outflow of menstrual blood and overstretching of the abnormal genital tract. Accumulation of menstrual blood in the vagina - hematocolpos, in the uterus - hematometra, in the fallopian tubes - hematosalpinx. Pain syndrome can also be a manifestation of a combination of defects with congenital endometriosis. In a patient with hematometra caused by gynathresia in the abdomen, palpation reveals a tumor-like formation located in the lower abdomen. The size of the hematometer is sometimes similar to that of the uterus in late pregnancy. The tumor is initially painless, mobile, located in the center, and if it becomes infected or menstrual blood enters the abdominal cavity, signs of peritonitis may appear.
By percussion it is possible to determine the dullness of sound in the hypogastrium. Hyperthermia, which is observed, is caused by the absorption of pyrogen substances from places where blood accumulates or suppuration during stagnation.
Diagnosis of abnormalities of the external genitalia
Examination of the external genitalia is of critical diagnostic importance for hymenal atresia. Cyanotic swelling (hematocolpos) causes the hymen and sometimes the entire perineum to burst. There is tension in this area, and sometimes gaping of the genital slit. To identify such anomalies as membranes, protrusions, additional passages, probing of the vagina and uterus is proposed. A mandatory diagnostic method is a two-handed rectal-pearonic examination. In the presence of a hematometer and hematosalpinx, a large, round, elastic, fluctuating, painless tumor is determined rectally. We must not forget that a dystopic kidney can be palpated in the lower abdomen or pelvis. When conducting a vaginal examination, one can find a doubling of the uterus, the presence of a rudimentary horn, an enlarged uterus (hematometer). Vaginoscopy allows you to find a doubling of the cervix, remnants of Gartner's tract, a vaginal membrane, and a fistula opening. Using X-ray methods, hysterosalpingography is informative if there is a suspicion of a bicornuate uterus, the presence of a membrane in the uterus, as well as a rudimentary horn, if the lumen communicates with the uterine cavity. Gas pelviography is used, and bicontrast gynecography provides important information for all types of anomalies of the internal genital organs. Ultrasound examination is important as a method for diagnosing hematometra and hematocolpos, as well as monitoring the effectiveness of treatment. Intravenous urography is mandatory in almost all cases of genital anomalies. In some cases, diagnostic laparotomy is of decisive importance, which, if necessary, can be converted into a therapeutic one: gonadectomy, ovarian resection, plastic surgery, cutting off rudimentary formations.Often there are developmental anomalies that do not allow visual determination of the gender of the face. Establishing the correct gender in patients with developmental defects of the genital organs is important for resolving the issue of the correct choice of rational corrective therapy and avoiding diagnostic and treatment errors. To establish true (genetic) sex, it is necessary to determine sex chromatin (Barr bodies) and examine the karyotype in peripheral blood lymphocytes.
Treatment of abnormalities of the external genitalia
with one type of pathology (saddle uterus, unicorn uterus, doubled reproductive apparatus) no treatment is required (it is enough just to know about the anomalies during pregnancy and childbirth); in others, treatment is ineffective and is limited to ensuring sexual function (creating an artificial vagina before marriage).The most beneficial for treatment is hymenal atresia. A puncture of the hematocolpos is performed in the center of the hymen, and then a 2x2 cross-shaped incision is made and after the bulk of the blood has poured out (can be up to 2 liters of dark blood), the edges of the artificially created Hymenal opening are formed with single catgut sutures. To prevent relapse, it is necessary to perform bojuvania of the artificial hymenal opening. In cases of vaginal atresia or agenesis with existing internal genital organs, surgical treatment to create an artificial vagina provides these women with the opportunity to have sexual activity. At the present stage, peritoneal colpopoiesis is considered the most effective and physiological compared to methods that involve the use of intestinal segments, skin, and alloplastic materials. One-stage colpopoesis technique: after dissecting the mucous membrane of the vaginal vestibule and the underlying fascia in the transverse direction, a bed is created between the urethra and rectum to the peritoneum, while the ischiocavernosus muscles and connective tissue membranes are dissected, and the tissue adjacent to the peritoneum is widely separated by blunt means rectum, bladder to the walls of the pelvis. Then the abdominal cavity is opened slightly posterior to the muscular ridge (rudiment of the uterus) in the transverse direction for 4-5 cm. 4 ligatures are applied to the peritoneum (on the anterior and posterior leaves and on the sides) and with the help of ligatures they bring it to the entrance to the vagina and sutured with separate catgut sutures to the edges of the incision at the entrance to the vagina. Afterwards, the patient is transferred to the Trendelenburg position and the vaginal dome is formed. To do this, at a depth of 11-12 cm in a transverse direction, sutures are placed with catgut on the anterior and posterior layers of the peritoneum. The vagina is loosely tamponed with gauze moistened with petroleum jelly.
Rehabilitation of abnormalities of the external genitalia
A girl suffering from an anomaly in the development of the genitals, or who has undergone surgical correction, is subject to dispensary observation.When signs of infantilism appear, the doctor begins hormone replacement therapy. In the process of monitoring this contingent of girls, it is necessary to exercise oncological vigilance, since blastomatous lesions are often found precisely on the formed genital organs. An equally serious danger is the development of endometriosis. However, in most cases, after surgical correction, the girl is able to conceive. Signs of a threatened miscarriage often arise, and during labor, labor anomalies and a tendency to hypotonic bleeding are almost always observed.
RCHR (Republican Center for Health Development of the Ministry of Health of the Republic of Kazakhstan)
Version: Clinical protocols of the Ministry of Health of the Republic of Kazakhstan - 2014
Congenital anomalies [malformations] of the body and cervix (Q51), Congenital anomalies [malformations] of the ovaries, fallopian tubes and broad ligaments (Q50), Other congenital anomalies [malformations] of the female genital organs (Q52)
obstetrics and gynecology
general information
Short description
Approved by the Expert Commission
On health development issues
Ministry of Health of the Republic of Kazakhstan
Congenital malformations of the genital organs- persistent morphological changes in the organ that go beyond variations in their structure. Congenital malformations occur in utero as a result of disruption of the developmental processes of the embryo or (much less often) after the birth of a child, as a consequence of disruption of further organ formation.
I. INTRODUCTORY PART
Protocol name: Congenital abnormalities of the genital organs
Protocol code:
ICD-10 code(s):
Q50 Congenital anomalies [malformations] of the ovaries, fallopian tubes and broad ligaments:
Q50.0 Congenital absence of an ovary.
Q50.1 Cystic anomaly of the ovary.
Q50.2 Congenital ovarian torsion.
Q50.3 Other congenital anomalies of the ovary.
Q50.4 Embryonic cyst of the fallopian tube.
Q50.5 Embryonic cyst of the broad ligament.
Q50.6 Other congenital anomalies of the fallopian tube and broad ligament.
Q51 Congenital anomalies [malformations] of the body and cervix:
Q51.0 Agenesis and aplasia of the uterus.
Q51.1 Duplication of the uterine body with duplication of the cervix and vagina
Q51.2 Other uterine duplications.
Q51.3 Bicornuate uterus.
Q51.4 Unicornuate uterus.
Q51.5 Agenesis and aplasia of the cervix.
Q51.6 Embryonic cyst of the cervix.
Q51.7 Congenital fistula between the uterus and the digestive and urinary tracts.
Q51.8 Other congenital anomalies of the body and cervix.
Q51.9 Congenital anomaly of the body and cervix, unspecified.
Q52 Other congenital anomalies [malformations] of the female genital organs:
Q52.0 Congenital absence of the vagina.
Q52.1 Vaginal duplication.
Q52.2 Congenital rectovaginal fistula.
Q52.3 Hymen completely covering the vaginal opening.
Q52.4 Other congenital anomalies of the vagina.
Q52.5 Lip fusion.
Q52.6 Congenital anomaly of the clitoris.
Q52.7 Other congenital anomalies of the vulva.
Q52.8 Other specified congenital anomalies of the female genital organs.
Q52.9 Congenital anomaly of female genital organs, unspecified
Abbreviations used in the protocol:
ALT - alanine aminotransferase
Anti-Xa - antithrombotic activity
AST - aspartate aminotransferase
APTT - Activated partial thromboplastin time
PID - inflammatory diseases of the pelvic organs
HIV - human immunodeficiency virus
GD - gonadal dysgenesis
ELISA - enzyme immunoassay
INR - International Normalized Ratio
MRI - magnetic resonance imaging
CBC - complete blood count
OAM - general urine analysis
PT - prothrombin time
PHC - primary health care
TFS - testicular feminization syndrome
EL/UR - level of evidence/level of recommendation
Ultrasound - ultrasound examination
ECG - electrocardiogram
IVF - in vitro fertilization
HS - hysteroscopy
LS - laparoscopy
MRSA - Methicillin-resistant Staphylococcus aureus
RW - Wasserman reaction
Date of development of the protocol: year 2014.
Protocol users: obstetricians-gynecologists, urologists, surgeons, general practitioners, therapists, pediatricians, neonatologists, emergency doctors.
Criteria developed by the Canadian Task Force on Preventive Health Care to assess the evidence of recommendations*
|
Levels of Evidence |
Recommendation levels |
|
I: Evidence based on at least one randomized controlled trial II-1: Evidence based on data from a well-designed controlled trial without randomization II-2: Evidence based on data from a well-designed cohort study (prospective or retrospective) or case-control study, preferably multicenter or performed by multiple study groups II-3: Evidence based on data from a comparative study with or without intervention. Conclusive results obtained from uncontrolled experimental trials (such as the results of penicillin treatment in the 1940s) could also be included in this category III: Evidence based on the opinions of reputable experts based on their clinical experience, descriptive studies or reports of expert committees |
A. Evidence supports the recommendation of clinical preventive interventions B. Reliable evidence to recommend clinical prophylaxis C. Existing evidence is conflicting and does not allow recommendations for or against the use of clinical prophylaxis; however, other factors may influence the decision D. There is reliable evidence to make a recommendation in favor of no clinical prophylactic effect E. Evidence exists to recommend against clinical prophylaxis L. There is insufficient evidence (quantitative or qualitative) to make a recommendation; however, other factors may influence the decision |
Classification
Clinical classification
Anatomical classification of congenital malformations of the genital organs:
1) Class I- atresia of the hymen (variants of the structure of the hymen);
2) Class II- complete or incomplete aplasia of the vagina and uterus:
Complete aplasia of the uterus and vagina (Rokitansky-Küster-Mayer-Hauser syndrome);
Complete aplasia of the vagina and cervix with a functioning uterus;
Complete vaginal aplasia with a functioning uterus;
Partial aplasia of the vagina up to the middle or upper third with a functioning uterus;
3) Class III- defects associated with the absence of fusion or incomplete fusion of paired embryonic genital ducts:
Complete duplication of the uterus and vagina;
Duplication of the body and cervix in the presence of one vagina;
Duplication of the uterine body in the presence of one cervix and one vagina (saddle uterus, bicornuate uterus, uterus with a complete or incomplete internal septum, uterus with a rudimentary functioning closed horn);
4) Class IV- defects associated with a combination of duplication and aplasia of paired embryonic genital ducts:
Duplication of the uterus and vagina with partial aplasia of one vagina;
Duplication of the uterus and vagina with complete aplasia of both vaginas;
Duplication of the uterus and vagina with partial aplasia of both vaginas;
Duplication of the uterus and vagina with complete aplasia of the entire duct on one side (unicornuate uterus).
Clinical and anatomical classification of malformations of the uterus and vagina :
I class. Vaginal aplasia
1. Complete aplasia of the vagina and uterus:
Rudiment of the uterus in the form of two muscle ridges
Rudiment of the uterus in the form of one muscle roll (right, left, center)
There are no muscle ridges
2. Complete vaginal aplasia and a functioning rudimentary uterus:
Functioning rudimentary uterus in the form of one or two muscular ridges
Functioning rudimentary uterus with cervical aplasia
Functioning rudimentary uterus with aplasia of the cervical canal
With all options, hemato/pyometra, chronic endometritis and perimetritis, hemato- and pyosalpinx are possible.
3. Aplasia of the vaginal part with a functioning uterus:
Aplasia of the upper third
Aplasia of the middle third
Aplasia of the lower third
II class. Unicornuate uterus
1. Unicornuate uterus with a rudimentary horn communicating with the cavity of the main horn
2. Vestigial closed horn
In both cases, the endometrium can be functioning or non-functioning
3. Vestigial horn without cavity
4. Absence of a vestigial horn
III class. Duplication of the uterus and vagina
1. Duplication of the uterus and vagina without disruption of the outflow of menstrual blood
2. Duplication of the uterus and vagina with a partially aplastic vagina
3. Duplication of the uterus and vagina with one non-functioning uterus
IV class. Bicornuate uterus
1. Incomplete form
2. Full form
3. Saddle shape
V class. Intrauterine septum
1. Complete intrauterine septum - up to the internal os
2. Incomplete intrauterine septum
VI grade. Malformations of the fallopian tubes and ovaries
1. Aplasia of the uterine appendages on one side
2. Tubal aplasia (one or both)
3. Availability of additional pipes
4. Ovarian aplasia
5. Ovarian hypoplasia
6. Presence of accessory ovaries
VII class. Rare forms of genital defects
1. Genitourinary malformations: bladder exstrophy
2. Intestinal and genital malformations: congenital rectovestibular fistula, combined with aplasia of the vagina and uterus; congenital recto-vestibular fistula, combined with a unicornuate uterus and a functioning rudimentary horn. They occur alone or in combination with malformations of the uterus and vagina.
Diagnostics
II. METHODS, APPROACHES AND PROCEDURES FOR DIAGNOSIS AND TREATMENT
List of basic and additional diagnostic measures during hospitalization
Basic (mandatory) diagnostic examinations performed on an outpatient basis:
General blood analysis;
General urine analysis;
Biochemical blood test (urea, creatinine, total protein, Alat, Asat, dextrose, total bilirubin);
Wasserman reaction in blood serum;
Determination of HIV p24 antigen in blood serum by ELISA method;
Determination of hepatitis B virus HbeAg in blood serum by ELISA method;
Determination of total antibodies to the hepatitis C virus in blood serum by ELISA method
Ultrasound of the pelvic organs;
Additional diagnostic examinations performed on an outpatient basis:
Cytological examination of the karyotype (if chromosomal abnormalities in the development of the internal genital organs are suspected)
Colposcopy/vaginoscopy;
Diagnostic hysteroscopy;
Hysterosalpingography.
The minimum list of examinations that must be carried out when referring for planned hospitalization:
General blood analysis;
General urine analysis;
Coagulogram (PT, fibrinogen, APTT, INR);
Biochemical blood test (urea, creatinine, total protein, ALT, AST, glucose, total bilirubin);
Determination of blood group according to the ABO system using cyclones;
Determination of blood Rh factor;
Wasserman reaction in blood serum;
Determination of HIV p24 antigen in blood serum by ELISA method;
Determination of HbeAg of hepatitis B virus in blood serum by ELISA method;
Determination of total antibodies to the hepatitis C virus in blood serum by ELISA method;
Determining the degree of purity of a gynecological smear;
Ultrasound of the pelvic organs;
Basic (mandatory) diagnostic examinations carried out at the hospital level:
Determination of blood group according to the ABO system using cyclones;
Determination of the Rh factor of blood.
Additional diagnostic examinations carried out at the hospital level:
Coagulogram;
Ultrasound of the pelvic organs;
MRI of the pelvic organs (indications: anomalies in the development of the internal genital organs);
Dopplerography of the pelvic organs;
Diagnostic laparoscopy (indications: anomalies of the internal genital organs);
Diagnostic hysteroscopy.
Diagnostic measures carried out at the stage of emergency care:
Collection of complaints and medical history;
Physical examination.
Diagnostic criteria(UD/UR IA), , (UD/UR IIВ)
Complaints and anamnesis
Complaints: for absence of menstruation, pain in the lower abdomen on the expected days of menstruation, inability to have sexual intercourse, absence of pregnancy.
Physical examination
With complete aplasia of the vagina and uterus: the external opening of the urethra is dilated and displaced downward (it is necessary to carry out differential diagnosis with the presence of an opening in the hymen).
Malformations of the vaginal vestibule:
Smooth surface from urethra to rectum;
Hymen without indentation in the perineum;
The hymen has an opening through which a blindly ending vagina is defined, 1 to 3 cm long;
A deep, blindly ending channel.
Atresia of the hymen:
Swelling of the perineal tissue in the area of the hymen;
Transparency of dark contents;
During a rectoabdominal examination, a formation of a tight or soft-elastic consistency is determined in the pelvic cavity, at the top of which a denser formation, the uterus, is palpated.
Complete or incomplete vaginal aplasia with a functioning rudimentary uterus:
During a gynecological examination, the absence or shortening of the vagina is noted;
During a rectoabdominal examination, a sedentary spherical uterus is palpated in the pelvis, sensitive to palpation and attempts to displace. The cervix is not detected. In the area of the appendages there are retort-shaped formations (hematosalpinxes).
Vaginal aplasia with a fully functioning uterus:
Palpation of the abdomen and rectoabdominal examination at a distance of 2 to 8 cm from the anus reveals the formation of a tight elastic consistency (hematocolpos). At the top of the hematocolpos, a denser formation (uterus) is palpated, which can be increased in size (hematometra). In the area of the appendages, spindle-shaped formations (hematosalpinxes) are determined.
With doubling of the external genitalia: 2 external vaginal openings are identified.
With complete and incomplete duplication of the internal genital organs:
During a gynecological examination, there are 2 cervixes in the vagina, a septum in the vagina;
During bimanual examination: 2 formations are identified in the pelvic cavity.
Rectovaginal fistula:
Discharge of meconium, gases, feces through the genital opening from the first days of life;
The anus is absent;
The fistula opening is located above the hymen.
Laboratory research
Karytotype study(UD/UR - IA):
An abnormal set of chromosomes (45X, 46XY, 46XX);
Mosaicism (X0/XY, XO/XXX, XO/XX, etc.);
Defect of the short arm of the X chromosome.
Instrumental studies
Ultrasound of the pelvic organs .:
1) with uterine aplasia:
The uterus is absent or presented in the form of one or two muscular ridges;
The ovaries are located high near the walls of the pelvis.
2) with vaginal aplasia with a rudimentary functioning uterus:
The cervix and vagina are absent;
The uterus is presented in the form of one or two muscular ridges;
Hematosalpinx.
3) For vaginal aplasia with a full uterus:
Several echo-negative formations filling the pelvic cavity hematocolpos, hematometra, hematosalpinx.
MRI of the pelvic organs: the presence of anomalies in the development of the genitals in the form of changes in the shape, number, location of the internal genital organs
Diagnostic laparoscopy: visualization of anomalies in the development of the genitals in the form of changes in the shape, number, location of the internal genital organs.
Indications for consultation with specialists:
Consultation with a therapist in the presence of extragenital diseases;
Consultation with a urologist or surgeon in the presence of defects of other adjacent organs and systems.
Differential diagnosis
Differential diagnosis
Differential diagnosis is carried out depending on the karyotype and clinical picture (Tables 1, 2).
Table 1. Differential diagnosis of developmental abnormalities of the genital organs depending on the karyotype
|
Nosology/ signs |
Karyotype | Sex chromatin level | Phenotype |
| Complete aplasia of the vagina and uterus | 46, XX | positive | Female (normal development of the mammary glands, hair growth and development of the external genitalia according to the female type) |
| Gonadal dysgenesis | 46, XY; 46 X0; 46 XO/XX; 46 XOXY | negative | Male, signs of masculinization (hypertrophy of the clitoris, virile hair growth) |
| Testicular feminization syndrome | 46, XY | negative | Female phenotype (normal development of the mammary glands, hair growth and female-type development of the external genitalia) |
table 2. Differential diagnosis of developmental anomalies of the genital organs depending on clinical signs
|
Nosology signs |
Menstrual function | Echo signs | Objective research |
| Abnormalities of the genital organs | Lack of menstrual function during puberty | The absence of the cervix and body of the uterus, a rudimentary horn, an intrauterine septum, and a bicornuate uterus are revealed. | Signs of genital abnormalities are identified |
| Adenomyosis | Menstrual dysfunction (scanty or heavy menstruation, brown discharge, pain before and after menstruation) is not associated with age | An increase in the anteroposterior size of the uterus, areas of increased echogenicity in the myometrium, small (up to 0.2 - 0.6 cm) round anechoic inclusions. | Increased size of the uterus, moderate pain, presence of uterine nodes (endometriomas). |
| Dysmenorrhea | Menstrual function is preserved, but is accompanied by severe pain | There are no characteristic echo signs | There are no characteristic data from a gynecological examination. |
| PID | Menometrorrhagia | An increase in the size of the uterus, the thickness of the endometrium, increased vascularization of the endometrium, the presence of fluid in the pelvis, thickening of the walls of the fallopian tubes, an uneven decrease in the echogenicity of the myometrial areas. | Increased size of the uterus, pain, soft consistency of the uterus, the presence of tubo-ovarian formations. Signs of intoxication. |
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Treatment
Treatment goals:
Elimination of genital abnormalities;
Restoration of menstrual, sexual, reproductive functions;
Improving quality of life.
Treatment tactics
Drug treatment
Hormonal therapy:
In the presence of anomalies of ovarian development, gonadal dysgenesis:
Estrogens in continuous mode - during puberty;
Estrogens in the first phase of the cycle, gestagens in the second phase - during the formation of the primary genital organs for cyclic hormonal therapy.
In case of delayed general somatic development:
Thyroid hormones (levothyroxine sodium 100-150 mcg/day);
Anabolic steroids (methandrostenolone 5 mg 1-2 times a day, depending on the degree of developmental disorder).
Antibacterial therapy carried out for the purpose of:
1) prevention of infectious complications:
Ampicillin/sulbactam (1.5g IV),
Amoxicillin/clavulanate (1.2g IV),
Cefazolin (2g IV)
Cefuroxime (1.5gv/v).
Time frame for antibacterial prophylaxis:
Once (intraoperatively);
From 1 to 3 days of the postoperative period - if the surgical intervention lasts more than 4 hours, if there are technical difficulties during the operation, especially when performing hemostasis, as well as if there is a risk of microbial contamination.
2) treatment of infectious complications(depending on the results of microbiological testing)
Ampicillin/sulbactam:
For mild infections, 1.5 g 2 times a day intravenously, duration of treatment is up to 3 - 5 days;
For moderate cases - 1.5 g 4 times a day intravenously, duration of treatment 5-7 days;
In severe cases - 3 g 4 times a day IV, duration of treatment up to 7 - 10 days.
Amoxicillin/clavulanate (calculation based on amoxicillin):
For mild infection: 1 g IV, 3 times a day, duration of treatment up to 3 - 5 days;
Cefazolin:
For mild infection: 0.5-1 g IV, 3 times a day, duration of treatment up to 3 - 5 days;
For severe infection: 2 g intravenously, 3 times a day, treatment duration is 5 - 10 days.
Cefuroxime:
For mild infection: 0.75 g IV, 3 times a day, duration of treatment up to 3 - 5 days;
For severe infection: 1.5 g IV, 3 times a day, treatment duration is 5 - 10 days.
Metronidazole:
For mild infection: 500 mg IV, drip, 3 times a day, duration of treatment up to 5-7 days;
For severe infection: 1000 mg IV, 2 - 3 times a day, duration of treatment 5 - 10 days.
Vancomycin: (for beta-lactam allergy, documented case of MRSA colonization).
7.5 mg/kg every 6 hours or 15 mg/kg every 12 hours IV, treatment duration 7 - 10 days
Ciprofloxacin 200 mg IV 2 times a day, treatment duration 5 - 7 days
Macrolides:
Azithromycin 500 mg 1 time per day intravenously. The course of treatment is no more than 5 days. After completing the IV administration, it is recommended to prescribe azithromycin orally at a dose of 250 mg until the 7-day general course of treatment is completed.
Infusion detoxification therapy: carried out for the purpose of treating intoxication syndrome, preventing infectious complications, and in providing emergency medical care - in case of active bleeding.
Crystalloid solutions in a total volume of up to 1500-2000 ml.
Sodium chloride solution 0.9%;
Sodium chloride/sodium acetate solution;
Sodium chloride/potassium chloride/sodium bicarbonate solution
Sodium acetate trihydrate/sodium chloride/potassium chloride solution
Ringer Locke solution;
Glucose solution 5%.
Antimycotic therapy:
Fluconazole 50-400 mg 1 time per day, depending on the degree of risk of developing a fungal infection.
Prevention of thromboembolic complications carried out for 3 days with low molecular weight heparins:
Dalteparin, 0.2 ml, 2500 IU, s.c.;
Enoxaparin, 0.4 ml (4000 Anti-Xa MO), s.c.;
Nadroparin, 0.3 ml (9500 IU/ml 3000 Anti-Xa MO), s.c.;
Reviparin, 0.25 ml (1750 anti-Xa ME), s.c.;
Certoparin sodium 0.4 ml (3000 Anti-Xa MO), s.c.
To relieve pain:
1) non-steroidal anti-inflammatory drugs:
Ketoprofen, IM, IV, 100 mg/2 ml up to 4 times a day;
Ketorolac orally, IM, IV 10-30 mg up to 4 times a day;
Diclofenac 75-150 mg per day IM up to 3 times a day.
2) synthetic opioids
Tramadol IV, IM, SC 50-100 mg up to 400 mg per day, orally 50 mg up to 0.4 g per day) no more than every 4-6 hours.
3) narcotic analgesics for severe pain during the early postoperative period
Trimeperidine, 1.0 ml of 1% or 2% solution IM;
Morphine, 1.0 ml 1% solution IM.
Uterotonic therapy(indications: hematometer, serosometer, operations with violation of the integrity of the muscular layer of the uterus)
Oxytocin (from 5-40 IU/ml IV drip, IM);
Methylergometrine from 0.05-0.2 mg IV, IM).
Drug treatment provided on an outpatient basis:
Estrogens
Combined oral contraceptives
Gestagens
2) list of additional medicines
Levothyroxine sodium, tablets 100-150 mcg
Methandrostenolone tablet 5 mg
Drug treatment provided at the inpatient level:
1) list of essential medicines:
Cefazolin, powder for the preparation of injection solution for intravenous administration 500 and 1000 mg;
Ketoprofen, ampoules 100 mg/2 ml;
Enoxaparin, disposable syringe 0.4 ml (4000 Anti-Xa MO).
