True and false type of hermaphroditism in humans. Male pseudohermaphroditism

The organs of a man and a woman have clear differences, as nature has established. It's not just about the genitals, but also about appearance, voice, fat distribution, pace hair growth and muscles - all are influenced by sex hormones. But it happens that it is visually difficult to determine who it is a man or a woman. This is called hermaphroditism.

Hermaphrodites are congenital and acquired. In the first case pathological process takes place in the womb when pelvic organs are formed incorrectly. If the pathology is acquired, then we are talking about organic lesions, this entails hormonal disorders and then secondary sexual characteristics begin to appear. Pituitary lesion in this regard is common.

Hermaphrodtism occurs in two varieties:

  1. The true type is an extremely rare pathology; in total, no more than two hundred facts have been noted in history.
  2. False hermaphroditism, in turn, it can be both female and male.

The laying of the genital organs occurs already in the third week embryonic development, then the formation of the vagina, uterus and appendages begins in future girls. This happens if everything is normal in the formation of the body, if serious violations begin, then sexual characteristics of two sexes are simultaneously formed, this is an innate form. pathological condition.

False female hermaphroditism develops according to its own scenario. The enzyme system undergoes defects, cortisol synthesis in the fetal adrenal cortex is disturbed and formed a large number of androgens. The development of the internal genital organs - the ovaries and uterus occurs in the normal mode, but an aggressive hormonal effect begins when the genital organs begin to form from the outside, like in the representatives of the stronger sex.

On the differences between pathologies

There are differences in how the genital organs are built - when the glands of the two sexes are found, the true pathology is diagnosed. A false pathology can be both male and female. feminine. But a certain karyotype is preserved in both sexes. But signs of the gender character of both sexes are externally added.

About manifestations

Manifestations of true hermaphroditism are different, it is influenced by different factors. When a child is born, it is not always possible to immediately identify the pathology. There are times when the sex can be established visually by genital features, but as the child grows, signs of an additional nature begin to be added. If during pubertal development a person has underdeveloped organs in the fair sex, then a visit to a doctor should be immediate.

If a true pathological condition is observed, then visually the formation of the genitals is of four types:

  • with the predominance of the female type - a slight increase in the clitoris, the vaginal opening is available, the mouth of the urination channel is available;
  • there is an increase in the clitoris (its dimensions are comparable to the penis), skin folds are observed, which look like foreskin, the vaginal entrance and the urethral mouth are apart;
  • the urethra enters the vagina, the obvious penis is small in size, there may be a prostate gland;
  • genital differentiation according to the male type - at the end of the penis, the urethra, there is a scrotum. In this case, there is an underdeveloped vagina and a uterus.

The testicle is located in different places:

  • skin fold, which in appearance is similar to the labia;
  • in the groin canal or scrotum;
  • abdominal cavity.

A hernia of the inguinal type may form, the seminiferous tubules are atrophied, and spermatogenesis may be preserved. A quarter of patients have ovulation. When puberty begins, bisexual development is possible. The voice timbre is low, the features of the figure combine the beginning of the representatives of the stronger and weaker sex, with the existing mammary glands hairline like men. If the type is female, then normal menstruation is observed, if the type of pathology is male, then blood traces are observed in the urine.

When sexual differentiation is formed, it leaves an imprint on a person's behavior in society, often a person becomes bisexual, homosexual.

On the pathological condition of the female type

This pathological condition can be acquired and congenital. The cause is a disturbed adrenal cortex, but there may be other reasons, many factors influence this. Such a tumor-like condition is observed in humans different ages, and the form of the innate type has a hereditary character. The pathological condition occurs in several forms, there are differences in the clinical picture.

If androgenic synthesis is manifested excessively, then signs are formed that are inherent in a certain sex of the external type. Patients differ in such sexual characteristics that are similar to the representatives of the stronger sex:

  • growth is low;
  • muscles are well developed;
  • growth of pubic hair, as in the representatives of the stronger sex;
  • an abnormally large amount of hair on the body;
  • growing beard and mustache.

There are a lot of anabolic hormones, so these ten grow abnormally fast. But such growth ends quickly, the child does not grow after 12 years, and the growth of such people rarely reaches one and a half meters.

Children under 6 years of age have a disproportionate developed body: body of considerable length, large head, short arms and legs. Clitoral hypertrophy is observed frequently. External changes the matter is not limited psychological behavior also changes. Children with this pathology communicate little with their peers, are shy, there is a slowdown in mental development, sexual attraction or high and low.

In young children, dehydration is fixed, the baby vomits. Liquid losses cannot be eliminated internal reception liquids. Facial features are sharp skin covering dry, at first the color of the skin on the face is pinkish, then earthy. If the cases are severe, then it is not uncommon for a convulsive state to occur, heartbeat is violated. When urinating, chlorine and sodium are excreted from the body.

In order to determine further tactics, it is necessary to identify the severity of false type hermaphroditism. If a gender discrepancy is found, then a thorough medical examination and appropriate treatment is given. False male hermaphroditism is more difficult to identify, as practice shows.

About ways to establish the true sex

3-4 days after the baby is born, the doctor takes blood samples in order to detect genetic type anomalies in time. The presence of these pathologies affects mental development child, if time does not begin to treat them. If everything is done on time and correctly, then clinical manifestations are not observed and the pathological condition does not develop further.

It happens that after the baby is born, it is difficult to visually determine its sex, in such cases an additional type of examination is carried out. The first step is an external examination - if a hypertrophied clitoris, labia in the form of a scrotum and a vaginal entrance covered with a skin fold are detected, doubts arise. Then an ultrasound of the genital organs is performed internal type, the uterus, ovaries are revealed, and it happens that they are not. The adrenal glands are examined by ultrasound. Urologists, gynecologists and endocrinologists are engaged in such studies, in severe cases, genetics.

To determine the true type of hermaphroditism, it is necessary to carry out a diagnostic laparoscopy and a gonadal biopsy. The tissue state is established using a histological examination, it is necessary to determine its correspondence to the testicles or ovaries.

How to set gender mismatch

Children are aware of their gender at the age of two, it depends on the mental and social development. If children have a genital structure and appearance do not correspond to each other, then heavy psychological disorders. In order to prevent further complications, it is necessary to without fail to carry out timely diagnosis in case of incorrect sexual formation, the corrective technique depends on this.

Treatment of such a pathological condition is hormonal and surgical. If children are diagnosed false hermaphroditism, then they are brought up as girls, and the hypertrophied clitoris is removed at the age of two. With the help of surgery, the fused labia are separated, which form the entrance to the vagina. If the vagina is overgrown, it is sometimes used plastic surgery using a peritoneal flap.

Therapy shows positive results hormonal type when corticosteroids are given. In order for female sexual characteristics to appear, estrogens and oral contraceptives are actively used. combined form, then the correct sexual type is established. If a person does not grow enough, then the use of a growth hormone type is prescribed.

If hormonal disorders are observed during the menstrual pause, then replacement therapy is prescribed. The result of the treatment of such a pathological condition is different, many factors are important. With early diagnosis and adequate treatment of the pathological condition, the chances of success are high. But complete feminization of girls is not always achieved even with timely and quality sexual correction.

When it comes to the treatment of the fair sex in reproductive age, then corrected hormonal background, after which the voice softens, the cycle of menstruation is restored. In the presence of a hypertrophied clitoris, only a surgeon can eliminate it. Patients often need the treatment of a psychologist, the correction of behavioral deviations often requires psychotherapeutic treatment.

The concept of "hermaphroditism syndrome" refers to a group of disorders of sexual differentiation that accompanies many congenital diseases and manifested by quite diverse symptoms. Patients suffering from this pathology have signs of both men and women.

Below we will talk about why hermaphroditism occurs, what clinical manifestations it can be accompanied, and we will also acquaint the reader with the principles of diagnosis and treatment of this pathology.

False hermaphroditism is distinguished when the structure of the genitals does not correspond to the sex of the sex glands (gonads). In this case, the genetic sex is determined by the affiliation of the gonads and is called pseudohermaphroditism male or female, respectively. If a person has elements of both the testicle and the ovary at the same time, this condition is called true hermaphroditism.

In the structure of urological and gynecological pathology hermaphroditism is recorded in 2-6% of patients. There are no official statistics regarding this pathology today, but it is tacitly believed that hermaphroditism is more common than doctors register it. Such patients often hide under other diagnoses (“gonadal dysgenesis”, “adrenogenital syndrome” and others), and also receive therapy in psychiatric departments, since their sexual disorders are incorrectly regarded by doctors as diseases of the sexual centers of the brain.

Classification

Depending on the mechanism of development of hermaphroditism, its 2 main forms are distinguished: violations of the differentiation of the genitals (genital organs) and violations of the differentiation of the gonads, or gonads.

There are 2 types of genital differentiation disorders:

  1. Female hermaphroditism (partial appearance of male sexual characteristics, while the set of chromosomes is 46 XX):
    • congenital dysfunction of the adrenal cortex;
    • intrauterine virilization of the fetus under the influence of external factors (if the mother suffers from any tumor that produces male sex hormones - androgens, or takes drugs with androgenic activity).
  2. Male hermaphroditism (inadequate formation of male sexual characteristics; the karyotype is as follows: 46 XY):
    • testicular feminization syndrome (tissues are sharply insensitive to androgens, which is why, despite the male genotype, and hence the person's belonging to this sex, he looks like a woman);
    • lack of the enzyme 5-alpha reductase;
    • inadequate synthesis of testosterone.

Violations of the differentiation of the gonads are represented by the following forms of pathology:

  • bisexual gonad syndrome, or true hermaphroditism (one and the same person combines both male and female gonads);
  • Turner syndrome;
  • pure gonadal agenesis ( complete absence in a patient, the gonads, the genitals are female, underdeveloped, secondary sexual characteristics are not determined);
  • dysgenesis (violation of intrauterine development) of the testicles.

Causes and mechanism of development of pathology

Both hereditary factors and factors affecting it from the outside can disrupt the normal development of the genital organs of the fetus.

The causes of dysembryogenesis, as a rule, are:

  • mutations of genes in autosomes (non-sex chromosomes);
  • pathology in the field of sex chromosomes, both quantitative and qualitative;
  • external factors affecting the body of the fetus through his mother at a certain period of development (the critical period in this situation is 8 weeks): tumors in the mother's body that produce male sex hormones, her intake medicines with androgenic activity radioactive radiation, various kinds of intoxication.

Each of these factors can affect any of the stages of sex formation, as a result of which one or another complex of disorders characteristic of hermaphroditism develops.

Symptoms

Consider each of the forms of hermaphroditism in more detail.

Female pseudohermaphroditism

This pathology is associated with a defect in the enzyme 21- or 11-hydroxylase. It is inherited in an autosomal recessive manner (that is, it is not related to sex). The set of chromosomes in patients is female - 46 XX, the sex glands are also female (ovaries), formed correctly. External genitalia have signs of both male and female. The severity of these disorders depends on the severity of the mutation and varies from mild hypertrophy (increase in size) of the clitoris to the formation of external genitalia, almost similar to those of men.

The disease is also accompanied severe violations electrolyte levels in the blood, which are associated with a deficiency of the hormone aldosterone. In addition, the patient may be found to be caused by increased blood volume and high level sodium in the blood due to deficiency of the enzyme 11-hydroxylase.

Male pseudohermaphroditism

As a rule, it is manifested by androgen insensitivity syndrome. The nature of inheritance is X-linked.

Due to a mutation in the androgen receptor gene, testicular feminization syndrome may develop. It is accompanied by the insensitivity of the tissues of the male body to male sex hormones (androgens) and, on the contrary, their good sensitivity to female hormones (estrogens). This pathology is characterized by the following symptoms:

  • the set of chromosomes is 46 XY, but the patient looks like a woman;
  • aplasia (absence) of the vagina;
  • insufficient hair growth for a man or the complete absence of the latter;
  • development of the mammary glands characteristic of women;
  • primary (although the genitals are developed according to female type, but missing);
  • absence of a uterus.

In patients with this pathology, the male gonads (testicles) are formed correctly, but are not located in the scrotum (it is absent), but in the inguinal canals, the region of the labia majora, in the abdominal cavity.

Depending on how the tissues of the patient's body are insensitive to androgens, there are complete and incomplete forms of testicular feminization. There is a variety of this pathology, in which the external genital organs of the patient look almost normal, close in appearance to those of healthy men. This condition is called Reifenstein's syndrome.

Also, false male hermaphroditism can be a manifestation of testosterone synthesis disorders that have arisen due to a deficiency of certain enzymes.

Violations of the differentiation of the sex glands

Syndrome of pure gonadal agenesis

This pathology occurs in connection with point mutations of the X or Y chromosome. Sick normal growth, their secondary sexual characteristics are underdeveloped, there is sexual infantilism and primary amenorrhea (initially there is no menstruation).

External genitalia, as a rule, have the appearance of women. In men, sometimes they develop in a male pattern.

Turner syndrome

Its reason is genetic mutation- monosomy (full or partial) on the X chromosome. There are also anomalies in the structure of this chromosome or mosaic variants of the mutation.

As a result of such an anomaly, the processes of differentiation of the sex glands and the function of the ovaries are disrupted. On both sides, there is a dysgenesis of the gonads, which are represented by streaks.

Non-sex chromosome genes are also affected. The growth processes of somatic cells and their differentiation are disturbed. Such patients are always short and have many different other anomalies (for example, short neck, pterygoid folds of the neck, sky high, heart disease, kidney disease, etc.).

Testicular dysgenesis (testis)

There are 2 forms:

  • bilateral (bilateral) - the testicles are underdeveloped on both sides, do not produce normal spermatozoa; karyotype - 46 XY, however, anomalies in the structure of the X chromosome are determined; the internal genital organs are developed according to the female type, the external ones may have signs of both male and female; the testicles do not produce testosterone, so the level of sex hormones in the patient's blood is sharply reduced;
  • mixed - the sex glands are asymmetrically developed; on the one hand, they are represented by a normal testicle with preserved reproductive function, on the other hand, with a streck; in adolescence in some patients, secondary sexual characteristics are formed according to the male type; in the study of the chromosome set, as a rule, anomalies in the form of mosaicism are detected.

True hermaphroditism

This pathology is also called bisexual gonadal syndrome. This is a rare disease characterized by the presence in the same person structural elements both testicles and ovaries. They can be formed separately from each other, but in some cases the so-called ovotestis is found in patients - tissues of both gonads in one organ.

The set of chromosomes in true hermaphroditism is usually normal female, but in some cases male. There is also mosaicism along the sex chromosome.

The symptoms of this pathology are quite diverse and depend on the activity of the testicular or ovarian tissue. The external genital organs are represented by both female and male elements.

Diagnostic principles


Ultrasound allows you to assess the condition of the gonads.

The process of making a diagnosis, as in other clinical situations, includes 4 stages:

  • collection of complaints, anamnesis data (history) of life and current disease;
  • objective examination;
  • laboratory diagnostics;
  • instrumental diagnostics.

Let's dwell on each of them in more detail.

Complaints and anamnesis

Among other data, in case of suspicion of hermaphroditism, the following points are of particular importance:

  • whether the patient's next of kin suffer from similar disorders;
  • the fact of an operation to remove it in childhood (this and the previous points will prompt the doctor to think about the testicular feminization syndrome);
  • features and growth rates in childhood and adolescence (if the growth rate in the first years of a child’s life was ahead of that of their peers, and at the age of 9-10 it stopped or slowed down sharply, the doctor should think about the diagnosis of “adrenal cortex dysfunction”, which arose against the background of advanced level androgens in the blood; this pathology may also be suspected in a child with).

Objective examination

Here the most important point is an assessment of the sexual development of the patient and his physique. In addition to sexual infantilism, detection of growth disorders and minor anomalies in the development of other organs and systems makes it possible to diagnose "Turner's syndrome" even before karyotyping.

If during palpation of the testicles of a man they are determined in the inguinal canal or in the thickness of the labia majora, male pseudohermaphroditism can be suspected. The detection of the fact of the absence of the uterus will convince the doctor of this diagnosis even more.

Laboratory diagnostics

by the most informative method The diagnosis of this pathology is karyotyping - a cytogenetic study of chromosomes - their number and structure.

Also, patients with suspected hermaphroditism determine the concentration in the blood of luteinizing and follicle-stimulating hormones, testosterone and estradiol, less often mineral and glucocorticoids.

In difficult diagnostic situations, a test with hCG is performed.

Methods of instrumental diagnostics

To assess the condition of the genital organs, the patient is prescribed an ultrasound of the pelvic organs, and in some cases computed tomography this area.

The most informative is the endoscopic examination of the internal genital organs and their biopsy.

Principles of treatment

The main direction of treatment for hermaphroditism is surgical intervention in order to correct the sex of the patient. The latter chooses his gender, in accordance with this decision, surgeons reconstruct the external genitalia.

Also, in many clinical situations, such patients are recommended to undergo bilateral gonadectomy - completely remove the sex glands (testicles or ovaries).

Female patients, if they have hypogonadism, are prescribed hormonal therapy. It is also indicated for patients who have had their gonads removed. In the latter case, the purpose of taking hormones is to prevent the development post-castration syndrome(insufficiency of sex hormones).

So, patients can be prescribed such drugs:

  • estradiol (one of its trade names is Proginova, there are others);
  • COCs (combined oral contraceptives) - Mercilon, Logest, Novinet, Yarina, Janine and others;
  • drugs for hormone replacement therapy for post-onset disorders (climodien, femoston, and so on);
  • synthetic analogues of glucocorticoids and mineralocorticoids (depending on which hormone deficiency occurs in a particular patient); they are prescribed for adrenal dysfunction, which resulted in sexual disorders;
  • to stimulate the growth of the patient, people suffering from Turner's syndrome are prescribed drugs growth hormone(Norditropin and others);
  • testosterone (omnadren, sustanon) - it is recommended to use it for the purpose hormone therapy male persons.

Patients suffering from hermaphroditism, even after surgery, should be under the supervision of an endocrinologist. Also, many of them are shown consultations of a psychotherapist, sexologist or psychologist.

Hermaphroditism in humans is a very mysterious phenomenon, which, although known for a very long time (according to legend, the first hermaphrodite was the son Greek gods), not much is known to science.

Cases of hermaphroditism are more common among animals, in humans this phenomenon is quite rare. The sex of a person is determined by the predominance of certain gonads, depending on the preponderance in one direction or another, female or male sexual characteristics (both primary and secondary) develop. This applies directly to the genitals, the development female breast, voice timbre and hairline. The number of female or male gonads is manifested in gait, behavior, character and psycho-emotional susceptibility.

Intersexualism (hermaphroditism) differs in true hermaphroditism and false (male and female). With a false type of pathology, a person has a genetic male (or female), and his genitals develop of the opposite sex. True hermaphroditism is manifested by the presence of two tissues - testicular and ovarian. Simply put, false hermaphroditism is a phenomenon in which gender and gender characteristics are related to different sexes, and true hermaphroditism is the presence of glands of different sexes in one body, these glands can also merge into one.

True hermaphroditism is diagnosed extremely rarely, it not only leads to infertility, but can also be the cause of a shift in a person's psycho-emotional health. Sometimes true hermaphroditism causes strange and even immoral human behavior.

As for the false type, when they talk about such a pathology as hermaphroditism, they mean exactly this type. It is subdivided into false male hermaphroditism - when there are male gonads, and the genitals on the outside are more like female ones. At the same time, the figure develops according to the female type, and a person also has a certain timbre of voice and a more labile “female” psyche; and false female hermaphroditism - a person has the gonads of a woman and male external organs. In the same way, in a person, the figure, timbre, head, hair and psyche develop according to the type of the stronger sex.

Possible reasons

Suspicious and poorly educated people consider hermaphroditism to be intrigues evil spirits, some of them are generally against the life of hermaphrodites in society. However, people familiar with science are outraged by this position, because apart from the abnormal structure of the genital organs, other deviations in hermaphrodites are rare. Concerning behavioral features these people, then they are quite understandable - two opposite personalities should coexist in one body. And yes, it doesn't happen to everyone.

Today, scientists put forward various theories and assumptions about the cause of this pathology, but there is still no exact data. Most of Scientists are inclined to believe that hermaphroditism is a spontaneous failure in the genes during intrauterine development. This happens at an early stage of embryo development, there may be several reasons for this:

  1. Toxic poisons (a woman during pregnancy takes medicines prohibited by doctors).
  2. Exposure to radiation.
  3. Influence of viruses and other infections (for example, toxoplasmosis).

In a female embryo, there is an excess of androgens, which give impetus to the formation of male genitalia, and in a male embryo, female genital organs develop due to testosterone deficiency. This can happen when:

  • diseases of the adrenal glands;
  • pathological processes in the pituitary gland and hypothalamus;
  • tumor processes in the gonads.

There is an assumption about a hereditary predisposition to hermaphroditism, since science has data on a certain family nature of this phenomenon.

Diagnosis of pathology

Diagnosis of pathology is based on several points:

  1. History taking - the course of pregnancy in the mother, what were the complications, diseases, infections, what drugs were taken, and so on. Were there any abnormalities in the child at birth, how did it go puberty in a child, whether compliance with the norms of age was observed. Is there a sexual life, what is the situation with reproductive function and others.
  2. Examination - the doctor reveals possible deviations regarding secondary sexual characteristics (development muscle mass, mammary glands, body type, body hair), and also finds out the presence of diseases of the internal organs.
  3. Karyotyping is a study to determine the genetic sex of a patient, for this, the composition and number of chromosomes are studied.
  4. Consultation with a urologist or gynecologist - specialists examine the genitals and identify abnormalities.
  5. Ultrasound - this study helps to carefully examine the structure of the internal genital organs and identify malformations.
  6. MRI is a more detailed and accurate study of the internal genital organs.
  7. Analysis of urine and blood for hormones.

Treatment of pathology

If the presence of pseudohermaphroditism is confirmed, treatment includes surgery, hormonal therapy, psychological help and legal support.

Drug correction of false hermaphroditism is carried out with the help of hormones that are dominant or desirable for a particular patient. That is, if the patient is dominated by male hormones, and he feels like a man, then they are discharged hormonal agents, which will suppress excess female hormones. And vice versa.

Surgical intervention helps the patient to obtain genitals that will not be discordant with his self-identification. At the same time, genitals that are not characteristic of this sex will be removed.

The help of a qualified psychologist is very important for a patient with hermaphroditism. The "confusion" in gender that occurs in such a child in childhood only worsens over the years. The task of the psychologist is not only to help the patient deal with his gender, but also to rid him of the feeling of inferiority. In addition, the psychologist must necessarily work with the relatives of his patient, as they often have a hard time accepting the current situation.

During the treatment of hermaphroditism, the question often arises of a sex change. Such a decision should be supported by legal support. Society and the state must accept the possibly new gender of a person, so lawyers must also take part in solving this problem.

by the most ideal age for the detection of pathology and for its treatment is the first year of a child's life. Adjustment at an older age can be accompanied by strong psychological shocks, which not everyone is able to cope with. In most cases, finding out one's true gender for many patients causes depression, suicide attempts, and other negative phenomena.

Parents who treat their child for hermaphroditism need to understand that it is extremely difficult for a doctor to determine the future sex of a child. As soon as the reception of the relevant hormonal drugs, there will be no turning back, and if a mistake was made, it will become fatal. Therefore, before starting treatment, there must be a clear confidence in the dominance of certain hormones; for this, numerous tests and studies are carried out.

To date Newest technologies allow to carry out genetic examination in utero, and, if necessary, correct anomalies even before the birth of the baby, which allows a whole and healthy person to be born.

But what about those people who in childhood did not pass necessary examination and now they live “not with their own” genitals? Doctors have some theory that can make the life of hermaphrodites much easier. It is believed that a hermaphrodite is neither a man nor a woman. This is the third floor. At present, the boundaries between the male and female principles are gradually being erased, besides, nature itself indicates that the existence of a third sex is quite possible - all human embryos are originally bisexual, and this is completely normal.

This symptom complex is one of the forms of testicular dysgenesis; it can manifest itself in many different ways. The chromosomal sex of the patient is male, testicles are formed, but they remain underdeveloped in varying degrees. In most cases, functioning Leydig cells can be found in the rudimentary gonad. With regard to the origin of this anomaly, it can be assumed that the testicles do not produce enough stimulant either during the initial or during the period of long-term induction. The testicles are located in the abdominal cavity, in the inguinal canal or in the labioscrotal fold. The tubules contain undifferentiated germ cells. Depending on the structure of the external genitalia, all cases of male false hermaphroditism can be divided into two large groups: a) external genitalia of the male type or bisexual; b) the external genital organs of the female type.

Male false hermaphroditism with male external genitalia

This form of hermaphroditism is quite common, but its anatomical and pathological manifestations very diverse, therefore, at the level of our modern knowledge exact classification is not yet possible. The variety of changes in the external genital organs is almost the same as in female false hermaphroditism caused by adrenogenital syndrome.

The penis is more or less enlarged and is very similar to a hypospadic member located between the two labioscrotal folds of the labia majora. A superficial examination can lead to the erroneous conclusion that the patient has hypospadias in combination with cryptorchidism. In some cases, the penis is slightly enlarged. Below the urethral opening there is a small vaginal opening, difficult to pass even for a probe; the structure of the internal genital organs can be very diverse (Fig. 24).

Rice. 24. Some forms of male pseudohermaphroditism (appearance of the patient is male). The testicles are located in the abdominal cavity or in the inguinal canal.

This condition is very similar to female false hermaphroditism caused by adrenogenital syndrome, however, with the latter anomaly, the chromosomal sex is always female. Sometimes it's the only one hallmark except for the release of 17-ketosteroids. Only in rare cases mixed forms of the external genital organs are so complex that it is not possible to determine the type of anomaly.

Puberty begins as in healthy children or only with a slight delay. AT childhood it is impossible to determine in which direction the somatic sexual characteristics will develop. Male-type development is more commonly observed, but it is interesting to note that such development occurs only in cases where the external genital organs are male-type. If the external genital organs are of a female type, then the somatic sexual characteristics will develop predominantly according to the female type (Prader, 1957). The reason for this phenomenon has not yet been elucidated.

The release of 17-ketosteroids is normal, the release of gonadotropin is slightly increased.

There is no doubt that hereditary factors play a certain role in the occurrence of this anomaly, since such an anomaly is often found in the brothers and close relatives of the patient. The role of genetic factors has not yet been elucidated.

Male false hermaphroditism with female genitals

The external genital organs of patients from this group are so developed according to the female type that they can easily be mistaken for organs. normal woman. Sometimes the patient has a urogenital sinus that communicates with the vagina. On fig. 25 is a schematic representation of the most common forms (Wilkins, 1957). The vagina, as a rule, is quite wide, but ends blindly, since the uterus is absent. The testicles can be located in the abdominal cavity, in the inguinal canal, or in the labia majora. The elements formed from the wolf ducts are relatively well developed. The testicles contain Sertolia and Leydig cells, spermiogenesis is absent.


Rice. 25. Some forms of male pseudohermaphroditism (the appearance of the patient is female). The testicles are located in the abdominal cavity or in the inguinal canal.

Children develop in a feminine direction; they also develop mammary glands, despite the presence of Leydig cells in the testicles. The anomaly usually remains unrecognized until puberty and is only discovered when the parents see a doctor for lack of menstruation or even later for primary amenorrhea. The anomaly can be accidentally recognized even earlier, when during a hernia repair during laparotomy, the surgeon discovers rudimentary testicles in the child. Although the genetic sex of the patient is male, the consciousness of sex is female.

Male pseudohermaphroditism- a disease resulting from impaired metabolism or synthesis of steroid male sex hormones (androgens) or simply a disorder of the male phenotype. In the case of a disease in the presence of a normal testicle, as well as with a normal male karyotype, the external genitalia are formed in boys according to the female type. Men suffering from this disorder may have a normal karyotype, however, the external genitalia may develop in a female pattern. This means that the endocrine system works exactly as it should with functionality. male hormones, but the external genitalia are misdiagnosed.

Classification, signs and causes

Classification of male pseudohermaphroditism of the external type:

  • underdevelopment of the testicles, often visually noticeable;
  • signs of a secondary type inherent in women receive more development during the period of sexual genesis;
  • intersex or fully female structure of the external genitalia;

Such defects can occur in cases of lack of enzymes that form testosterone and cholesterol. Anomalies provoke the following violations of enzyme systems:

  • insufficient amount of 20,22-desmolase;
  • the missing amount of 3b-hydroxysteroid dehydrogenase;
  • lack of 17a-hydroxylase, provoking, in addition to pseudohermaphroditism in boys and men, dysfunction of the adrenal glands
  • lack of 17,20-desmolase;
  • insufficient level of 17b-hydroxysteroid dehydrogenase.

The problem can find its origin even at the moment of embryonic origin (embryogenesis), when the reproductive organs begin to form from the cells of the embryo. The lack of enzyme systems in the first trimester of pregnancy can affect the occurrence of pathology. In this case, the complex and multilevel process of formation of testosterone from cholesterol has pathological consequences male pseudohermaphroditism. Insufficient work of the enzyme system also affects the work of steroidogenesis.

Whatever was the original cause of male pseudohermaphroditism, the disease is a problem, and for staging accurate diagnosis a very serious approach is required, including all possible methods in this case.

There may be such types of male pseudohermaphroditism, in which the action of androgens is impaired, which also leads to a deformation of the sensation of tissue material and testosterone. The synthesis of testosterone in this case takes place without disturbances, but the cellular material acquires a resistant character (resistance) with regard to its activity, which leads to a different level of development of pathologies in the male line.

The appearance of this type of pathology as an autosomal recessive pseudohermaphroditism is able to lead to a lack of 5a-reductase.

Symptoms of male pseudohermaphroditism

The whole set of factors of pseudohermaphroditism in men explains the polymorphism of the clinical illustration. If there are not enough enzyme systems that are actively involved in the process of testosterone synthesis, then hypospadias, underdevelopment of the scrotum, may occur. In this situation, the location of the testicles, probably both in the scrotum and outside it, will show partial masculinization. The most critical forms of enzyme deficiency will result in the formation of a male body in the likeness of a woman.

Also, pseudohermaphroditism in men is explained by a lack of 5a-reducta, which describes perineoscrotal hypospadias and the presence of a vagina that ends blindly. Despite this, the patient has testicles that are sufficiently developed and seminal vesicles. The development of gynecomastia is absent, the hairline remains male.

The receptors are also at risk of being subjected to pathology, under such conditions the formation of various phenotypic variations of the disease is real. The most common outcome of events is absolute testicular feminization. In this case, the man in phenotypic terms looks like a girl, the genitals are formed according to the female type, and the mammary glands are also well developed. One of the severe options for the development of the disease is the identification inguinal hernia. Mentally, a man associates himself with a woman.

The rarest form of manifestation of the disease is partial testicular feminization. The main signs of male pseudohermaphroditism are the process of virilization of the external genitalia.

Diagnosis of male pseudohermaphroditism

If anomalies in the genital area are detected, it is necessary to undergo an examination by an endocrinologist, gynecologist and urologist. During the period full inspection the structure of the genital organs is assessed.

A complex of hormonal studies is being carried out, which consists in determining the degree of testosterone, prolactin and other substances necessary for the analysis. To trace the dynamics of changes in the structure of the genital organs, you need to use functional test with HG.

Thanks to ultrasound examination you can detect the presence or absence of female genitalia, identify the testicles. Such an examination must necessarily be supplemented by a hormonal study - in order to determine the level of testosterone, prolactin and other essential substances for analysis. To track the dynamics of development or deformation of sexual attributes, a sample of a functional type with CG is taken. To confirm the anatomical side of the issue, it is necessary to carry out diagnostics in the form of laparoscopy. Patients also undergo karyotype and sex chromatin analysis.

Main methods of analysis:

  • external analysis of the genital organs from the outside with an assessment of the size and structure of the genitals;
  • implementation of ultrasound;
  • tests in the laboratory for the degree of hormones: FSH, LH, prolactin;
  • examination of the genetic plan in relation to the karyotype.

Treatment of pseudohermaphroditism

The problem of male pseudohermaphroditism is a difficult challenge for a person, because, in addition to physical disorders, entails extremely severe psycho-emotional states. In the treatment of this pathology key point becomes an auto-identification of a person, that is, the position of the patient in accordance with the choice of civil sex. Based on this initial condition, an image of the pathology is built, and then a vector is formed in the treatment of the patient.

Representatives who have external genitalia in the presence of a male psychosexual orientation, treatment with testosterone. It is also possible to prescribe surgical measures for the operation of bringing down the testicle. Also in this case, it may be necessary to eliminate gynecomastia, correct hypospadias, correct the penis in time, including its lengthening.

If the patient has testicular feminization, the treatment of male pseudohermaphroditism is carried out differently. Such patients are indicated for surgical elimination of ectopic testicles after puberty in the absolute form and in the prepubertal period in the partial form. After surgical operations treatment with estrogen. If patients have insufficient development of the vagina, they are shown vaginoplasty for a normal life of a person with a sexual partner. Colpoelongation may also be performed. In some cases, the clitoris is corrected.

Prevention of male pseudohermaphroditism

The best scenario is to prevent the occurrence of such a situation, however, this is impossible to do, since the formation of the disease occurs at the gene level. What can really be done as a precaution and to prevent complications of male pseudohermaphroditism? Conduct full examination and implement replacement therapy, such a set of actions will help to start living a normal life, and in the future to create a family and have children.

Adaptation in society

In order for patients to feel confident in society, social and psychological adaptation is necessary. As practice shows, the adaptation in the society of people with male pseudohermaphroditism is the easier, the faster the pathologies were detected. This is also important for assigning as much as possible early age civil sex, which will be the most appropriate in a particular case. Adapted patients can lead normal life, start families and feel like absolutely full members of society.