What are the advantages and disadvantages of the phenomenon of hermaphroditism. The phenomenon of hermaphroditism. Natural and anatomical hermaphroditism. Intersexuality and. Gynandromorphism. Disorders of gonadal differentiation

Hermaphroditism (named after the Greek god Hermaphroditus, Greek Ερμαφρόδιτος) is the simultaneous or sequential presence of male and female sexual characteristics and reproductive organs in an organism.

There are natural hermaphroditism inherent in various species of animals and plants (monoecy) and abnormal (pathological) hermaphroditism of normally dioecious animals (see Gynandromorphism, Intersexuality).

Hermaphroditism is quite widespread in nature - both in the plant world (in this case the terms monoecy or polyecy are usually used) and among animals. Most higher plants are hermaphrodites; in animals, hermaphroditism is widespread primarily among invertebrates - a number of coelenterates, the vast majority of flatworms, some annelids and roundworms, mollusks, crustaceans (in particular, most species of barnacles) and insects (coccids).

Among vertebrates, many species of fish are hermaphrodites, and hermaphroditism is most common in fish inhabiting coral reefs.

With natural hermaphroditism, an individual is capable of producing both male and female gametes, and a situation is possible when both types of gametes (functional hermaphroditism) or only one type of gametes (afunctional hermaphroditism) have the ability to fertilize.

In synchronous hermaphroditism, an individual is capable of simultaneously producing both male and female gametes.

In the plant world, this situation often leads to self-fertilization, which occurs in many species of fungi, algae and flowering plants (self-fertilization in self-fertile plants).

In the animal world, self-fertilization during synchronous hermaphroditism occurs in helminths, hydras and mollusks, as well as some fish (Rivulus marmoratus), however, in most cases, autogamy is prevented by the structure of the genital organs, in which the transfer of one’s own sperm to the female genital organs of an individual is physically impossible (mollusks, in particular , Aplysia, ciliated worms), or the impossibility of fusion of their own differentiated gametes into a viable zygote (some ascidians).

Accordingly, with exogamous synchronous hermaphroditism, two types of copulatory behavior are observed:

mutual fertilization, in which both copulating individuals act as both males and females (most often among invertebrates, examples include earthworms and grape snails)

sequential fertilization - one of the individuals plays the role of a male, and the other plays the role of a female; mutual fertilization does not occur in this case (for example, in perch fish of the genera Hypoplectrus and Serranus).

In the case of sequential hermaphroditism (dichogamy), an individual sequentially produces male or female gametes, and either sequential activation of male and female gonads occurs, or a change in the phenotype associated with the entire sex. Dichogamy can manifest itself both within one reproductive cycle and throughout the life cycle of an individual, and the reproductive cycle can begin with either the male (protandry) or the female (protogyny).

In plants, as a rule, the first option is common - when flowers form, the anthers and stigmas do not ripen at the same time. Thus, on the one hand, self-pollination is prevented and, on the other hand, due to the non-simultaneous flowering time of various plants in the population, cross-pollination is ensured.

In the case of animals, a change in phenotype most often occurs, that is, a change in sex. A striking example is the many species of fish - representatives of the families wrasse (Labridae), grouper fish (Serranidae), pomacentridae (Pomacentridae), parrot fish (Scaridae), most of which are inhabitants of coral reefs.

Pathological hermaphroditism is observed in all groups of the animal world, including higher vertebrates and humans. Hermaphroditism in humans is a pathology of sexual determination at the genetic or hormonal levels.

There are true and false hermaphroditism:

True (gonadal) hermaphroditism is characterized by the simultaneous presence of male and female genital organs, along with this there are both male and female gonads. In true hermaphroditism, the testicles and ovaries can either be combined into one mixed sex gland or located separately. Secondary sexual characteristics have elements of both sexes: a low timbre of voice, a mixed (bisexual) body type, and more or less developed mammary glands.

The chromosome set (karyotype) in such patients usually corresponds to the female karyotype. In more rare cases, there is a situation where there are both cells containing a female chromosome set and cells containing a male chromosome set (the phenomenon of so-called mosaicism). True hermaphroditism is an extremely rare disease (only about 150 cases are described in the world literature).

False hermaphroditism (pseudohermaphroditism) occurs when there is a contradiction between the internal (chromosomal and gonadal) and external (structure of the genital organs) characteristics of sex (bisexual development), i.e. the gonads are formed correctly according to the male or female type, but the external genitalia have signs of bisexuality.

Gynandromorphism (ancient Greek γυνή - woman + ἀνήρ, gender ἀνδρός - man + μορφή - type, form) is an anomaly, expressed in the fact that in one organism large areas of the body have the genotype and characteristics of different sexes. It is the result of the presence in male and female cells of the body of sets of sex chromosomes with different numbers of the latter, such as in many insects. Gynandromorphism occurs as a result of incorrect distribution of sex chromosomes among cells during impaired maturation of the egg, its fertilization or fragmentation.

Individuals - gynandromorphs are most pronounced in insects with clearly manifested signs of sexual dimorphism, while the following types of gynandromorphs are morphologically distinguished:

bilateral, in which one longitudinal half of the body has male characteristics, the other female;

anterior-posterior, in which the front part of the body bears the characteristics of one sex, and the back - the other;

mosaic, in which areas of the body interspersed, bearing characteristics of different sexes.

In vertebrates and humans, due to the action of sex hormones, similar phenomena lead to sexual anomalies, in which the sectorial distribution of male and female tissues usually does not appear so sharply.

With intersexuality, a more complex differentiation of female and male characteristics is observed.

Intersexuality is the presence of characteristics of both sexes in a dioecious organism, and these characteristics are not fully developed, intermediate (cf. Hermaphroditism). Characteristics of both sexes appear together on the same parts of the body (cf. gynandromorphism).

The embryonic development of such an organism is called intersex; it begins normally, but from a certain point continues like the other sex. The sooner the direction of development of an organism changes, the more pronounced its intersexuality is.

It is the result of a deviation from the norm in the set of sex chromosomes and genes at the time of fertilization when gametes unite into a zygote. Depending on the nature of the disorder, there can be triploid or another - aneuploid intersexuality. Diploid intersexuality is observed when different geographical races are crossed in the gypsy moth butterfly, either in females or in males, depending on the type of crossing.

Forms of intersexuality, the so-called pseudohermaphroditism in humans, can also be caused by a violation of the normal number of sex chromosomes. Moreover, in Drosophila flies, the determining factor in the development of sex is the ratio of the number of pairs of sex chromosomes and autosomes, so in them intersexuality is usually associated with a violation of this ratio (for example, observed with a ratio of 3A:2X - three sets of autosomes per two sex chromosomes). In humans, the determining factor in the development of male sex is the presence of the Y chromosome, while intersex traits are observed in men with Klinefelter syndrome (XXY set of sex chromosomes).

Hormonal intersexuality. If in animals the secretion of male or female hormones by the gonads determines the development of secondary sexual characteristics, then the phenomenon of hormonal intersexuality can be observed in them.

Ticket 13

1. Provisional organs, types and formation of formations of provisional cells

Provisional organs (German provisorisch - preliminary, temporary) are temporary organs of the embryos or larvae of multicellular animals, functioning only during the embryonic or larval period of development. They can perform functions specific to the embryo or larva, or the main functions of the body before the formation of similar definitive (final) organs characteristic of an adult organism.

Examples of provisional organs: chorion, amnion, yolk sac, allantois and serous membrane and others.

The amnion is a temporary organ that provides an aqueous environment for the development of the embryo. In human embryogenesis, it appears at the second stage of gastrulation, first as a small vesicle, the bottom of which is the primary ectoderm (epiblast) of the embryo

The amniotic membrane forms the wall of the reservoir filled with amniotic fluid, which contains the fetus.

The main function of the amniotic membrane is the production of amniotic fluid, which provides an environment for the developing organism and protects it from mechanical damage. The epithelium of the amnion, facing its cavity, not only secretes amniotic fluid, but also takes part in their reabsorption. The amniotic fluid maintains the required composition and concentration of salts until the end of pregnancy. The amnion also performs a protective function, preventing harmful agents from entering the fetus.

The yolk sac is an organ that stores nutrients (yolk) necessary for the development of the embryo. In humans, it is formed by extra-embryonic endoderm and extra-embryonic mesoderm (mesenchyme). The yolk sac is the first organ in the wall of which blood islands develop, forming the first blood cells and the first blood vessels that transport oxygen and nutrients to the fetus.

Allantois is a small process in the embryo that grows into the amniotic leg. It is a derivative of the yolk sac and consists of the extraembryonic endoderm and the visceral layer of mesoderm. In humans, the allantois does not reach significant development, but its role in ensuring nutrition and respiration of the embryo is still great, since vessels located in the umbilical cord grow along it to the chorion.

The umbilical cord is an elastic cord connecting the embryo (fetus) to the placenta.

Further development of the chorion is associated with two processes - the destruction of the uterine mucosa due to the proteolytic activity of the outer layer and the development of the placenta.

The human placenta (baby place) belongs to the type of discoidal hemochorial villous placenta. The placenta provides a connection between the fetus and the maternal body and creates a barrier between the blood of the mother and the fetus.

Functions of the placenta: respiratory; transport of nutrients, water, electrolytes; excretory; endocrine; participation in myometrial contraction.

Hermaphroditism (named after the Greek god Hermaphroditus(ancient Greek Ἑρμαφρόδιτος )) - the simultaneous or sequential presence of male and female sexual characteristics and reproductive organs in an organism.

There are natural hermaphroditism inherent in various species of animals and plants (monoecy) and abnormal (pathological) hermaphroditism of normally dioecious animals (see Gynandromorphism, Intersexuality).

Natural hermaphroditism

Hermaphroditism is quite widespread in nature - both in the plant world (in this case the terms monoecy or polyecy are usually used) and among animals. Most higher plants are hermaphrodites; in animals, hermaphroditism is widespread primarily among invertebrates - a number of coelenterates, the vast majority of flatworms, some annelids and roundworms, mollusks, crustaceans (in particular, most species of barnacles) and insects (coccids).

Among vertebrates, many species of fish are hermaphrodites, and hermaphroditism is most often manifested in fish inhabiting coral reefs.

With natural hermaphroditism, an individual is capable of producing both male and female gametes, and a situation is possible when both types of gametes (functional hermaphroditism) or only one type of gametes (afunctional hermaphroditism) have the ability to fertilize.

In synchronous hermaphroditism, an individual is capable of simultaneously producing both male and female gametes.

In the plant world, this situation often leads to self-fertilization, which occurs in many species of fungi, algae and flowering plants (self-fertilization in self-fertile plants).

In the animal world, self-fertilization with synchronous hermaphroditism occurs in helminths, hydras and mollusks, as well as some fish ( Rivulus marmoratus) however, in most cases, autogamy is prevented by the structure of the genital organs, in which the transfer of one’s own sperm to the female genital organs of an individual is physically impossible (molluscs, in particular, Aplysia, ciliated worms), or by the impossibility of fusion of one’s own differentiated gametes into a viable zygote (some ascidians).

Accordingly, with exogamous synchronous hermaphroditism, two types of copulatory behavior are observed:

• mutual fertilization, in which both copulating individuals act as both males and females (most often among invertebrates, examples include earthworms and grape snails)
• sequential fertilization - one of the individuals plays the role of a male, and the other plays the role of a female; mutual fertilization does not occur in this case (for example, in perch fish of the genera Hypoplectrus And Serranus).

Sequential hermaphroditism (dichogamy)

In the case of sequential hermaphroditism (dichogamy), an individual sequentially produces male or female gametes, and either sequential activation of male and female gonads occurs, or a change in the phenotype associated with the entire sex. Dichogamy can manifest itself both within one reproductive cycle and throughout the life cycle of an individual, and the reproductive cycle can begin with either the male (protandry) or the female (protogyny).

In plants, as a rule, the first option is common - when flowers form, the anthers and stigmas do not ripen at the same time. Thus, on the one hand, self-pollination is prevented and, on the other hand, due to the non-simultaneous flowering time of various plants in the population, cross-pollination is ensured.

In the case of animals, a change in phenotype most often occurs, that is, a change in sex. A striking example is the many species of fish - representatives of the wrasse family ( Labridae), groupers ( Serranidae), pomacentric ( Pomacentridae), parrotfish ( Scaridae), most of which are inhabitants of coral reefs.

Abnormal (pathological) hermaphroditism

It is observed in all groups of the animal world, including higher vertebrates and humans. Hermaphroditism in humans is a pathology of sexual determination at the genetic or hormonal levels.

There are true and false hermaphroditism:

• True (gonadal) hermaphroditism is characterized by the simultaneous presence of male and female genital organs, along with this there are both male and female gonads. In true hermaphroditism, the testicles and ovaries can either be combined into one mixed sex gland or located separately. Secondary sexual characteristics have elements of both sexes: a low timbre of voice, a mixed (bisexual) body type, and more or less developed mammary glands.

The chromosome set (karyotype) in such patients usually corresponds to the female karyotype. In more rare cases, there is a situation where there are both cells containing a female chromosome set and cells containing a male chromosome set (the phenomenon of so-called mosaicism). True hermaphroditism is an extremely rare disease (only about 150 cases are described in the world literature).

• False hermaphroditism (pseudohermaphroditism) occurs when there is a contradiction between the internal (chromosomal and gonadal) and external (structure of the genital organs) signs of sex (bisexual development), that is, the gonads are formed correctly according to the male or female type, but the external genitalia have signs bisexuality.

Hermaphroditismor disorder of sexual differentiation is a whole group of developmental defects with various clinical manifestations and genetic diversity, characterized by the presence of characteristics of both sexes in one individual. The term "hermaphroditism" is associated with the ancient Greek myth, according to which the son of two Greek gods - Hermes and Aphrodite - Hermaphrodite was turned into a bisexual creature. Hermaphroditism is otherwise called bisexuality, bisexuality, and androgeny. Natural hermaphroditism occurs in nature in some plant species, in representatives of the coelenterate family, in flatworms, in a number of mollusks and fish.

Distinguish false hermaphroditism, or pseudohermaphroditism, which implies the presence of external genitalia of both sexes in one organism, and true, or gonadal, hermaphroditism, in which the individual's gonads are represented by both ovaries and testes. Identifying the form of sexual differentiation disorder allows you to choose the appropriate method for correcting the pathology. At the birth of a baby with bisexual external genitalia, karyotyping and ultrasound examination of the pelvic organs are performed to determine the gender of the gonads, which will allow the civil gender of the child to be established and documented.

True hermaphroditism is extremely rare. The prevalence of pseudohermaphroditism is approximately 1 case per two thousand newborns.

Classification of hermaphroditism

All manifestations of hermaphroditism can be divided into 2 groups - impaired differentiation of the external genitalia and impaired differentiation of the gonads.

Defects of genital differentiation include:

1. Female hermaphroditism, characterized by karyotype 46XX with partial virilization. Occurs with congenital dysfunction of the adrenal cortex or intrauterine virilization of the fetus associated with the presence of androgen-secreting tumors in a woman, or with the use of androgen-active drugs.

2. Male hermaphroditism, which is characterized by a 46XY karyotype and inadequate virilization. The occurrence of this form of hermaphroditism is facilitated by testicular feminization syndrome, deficiency of 5a-reductase and defects in testosterone synthesis.

Disturbances in gonadal differentiation may manifest as:
- true hermaphroditism;
- Turner syndrome;
- testicular dysgenesis;
- pure gonadal agenesis.

Causes and mechanism of development of hermaphroditism

The development of hermaphroditism is based on a violation of the normal embryonic development of the fetus due to hereditary or external causes. Hereditary causes can be associated with quantitative and qualitative chromosomal defects of sex chromosomes and autosomes - gene mutations, translocations, deletions. External causes that contribute to the development of hermaphroditism include intoxication, radiation, androgen-producing tumors in the body of a pregnant woman, and taking medications with androgenic activity. The impact of these factors is especially dangerous during critical periods of embryonic development of the fetus (in the seventh to eighth week of pregnancy).

The formation of an individual's gender occurs in several stages. It all starts with the determination of genetic sex and differentiation of the gonads during intrauterine development, based on which the potential direction of the reproductive function is outlined. After this, a hormonal background is formed with a predominance of male or female sex hormones. The process of a child’s sexual identity ends with the formation of somatic and civil gender, which determines the direction of sex education. Genetic determination of sex and the expected path of development of the gonads depend on genes, and the development of the gonads and genitals according to the male type is determined by factors that are produced by the fetal gonads. Based on this, hermaphroditism can occur due to a defect in one of the intrauterine stages of sex formation.

Signs of hermaphroditism

False female hermaphroditism characterized by a female karyotype 46XX and gonads characteristic of the female sex - ovaries. But the external genitalia have a bisexual structure. Patients experience varying degrees of virilization from a slight enlargement of the clitoris to the formation of genital organs similar in structure to those of men. The entrance to the vagina narrows. Since the disease is most often associated with enzymatic deficiency of 21-hydroxylase and 11-hydroxylase, which is accompanied by impaired potassium-sodium metabolism, patients complain of edema and increased blood pressure.

False male hermaphroditism, otherwise called androgen insensitivity syndrome or testicular feminization syndrome, which is characterized by a male karyotype 46XY against the background of a female phenotype characterized by spontaneous growth of the mammary glands, scanty male hair growth, absence of the uterus and vaginal aplasia. In this case, the testicles are located in the inguinal canals, labia majora or in the abdominal cavity. If the phenotype has external genitalia similar to normal male ones, then we speak of Reifenstein syndrome.

Occasionally, the cause of male hermaphroditism can be a congenital pathology of testosterone production in the adrenal glands and testes, which is manifested either by its insufficient secretion or by a disrupted mechanism of action.

Turner syndromeis one of the variants of impaired gonadal differentiation and is caused by the complete absence of the X chromosome or its structural abnormality. A defect in the X chromosome leads to deformations in the expression of genes that control the differentiation and function of the ovaries, which ultimately leads to disruption of the formation of gonads and the formation of gonads instead. The genes of autosomal chromosomes that control the growth and differentiation of cells of internal organs also undergo transformations, which leads to short stature and the development of a high palate. In addition, when examining patients, ear deformities and a short neck with skin folds on the back in the form of “wings” are revealed. During instrumental examination of patients, heart and kidney defects are detected.

In patients with pure gonadal dysgenesis syndrome The genitals are usually formed according to the female type; only with karyotype 46XY is virilization of the genitals sometimes observed. The growth of the patients is normal, external sexual characteristics are not expressed, and sexual infantilism is characteristic. In patients with mixed gonadal dysgenesis Asymmetric formation of the internal genital organs is noted. Thus, on one side they have a streak, and on the other, a testicle, the functionality of which is preserved.

With true hermaphroditism, which is extremely rare, the patient is found to have elements of ovarian and testicular tissue. Signs of this form of hermaphroditism are variable and depend on the activity of ovarian and testicular tissues. The genitals are arranged according to the bisexual type.

Methods for diagnosing hermaphroditism

Diagnosis of the disease consists of the collection and analysis of anamnestic data, examination, instrumental and laboratory research methods.

When collecting anamnesis, it is important to find out whether close relatives on the maternal side had similar disorders. It is necessary to focus on the nature and rate of growth during childhood and puberty, since active growth up to 10 years with its subsequent cessation may indicate adrenal dysfunction as a result of hyperandrogenemia. This process can also be suspected based on the early appearance of pubertal hair.

When examining the patient, the physique is assessed, which can inform about deviations that occur during puberty. For example, the physique of a “eunuch” is formed due to hypogonadism, the basis of which may be hermaphroditism. Short stature, combined with sexual infantilism, makes one think about Turner syndrome. False male hermaphroditism can be suspected by palpation of testicles in the labia majora or in the inguinal canals.

Laboratory tests for the diagnosis of hermaphroditism come down to determining chromosomal and gene mutations using karyotyping and gene research. Determining the level of gonadotropins and sex hormones in the blood makes it possible to differentiate hermaphroditism from other diseases. To identify the potential direction of sexual adaptation in patients with a mixed form of gonadal dysgenesis, a test with human chorionic gonadotropin is performed. And to diagnose patients with impaired synthesis of testosterone and androgens, the level of testosterone, glucocorticoid and mineralocorticoid hormones, as well as their precursors is examined, using a stimulation test with analogues of adrenocorticotropic hormone.

Using ultrasound and computed tomography, information about the condition of the internal genital organs is obtained.

Treatment of hermaphroditism

The main objectives of therapeutic measures for the correction of hermaphroditism are to determine the civil sex and the formation of all the signs necessary for this in the patient, and to ensure normal hormonal levels. Treatment of patients with hermaphroditism consists of surgical gender reassignment and hormone replacement therapy.

Surgical gender reassignment is aimed at the formation of the external genitalia using masculinizing or feminizing reconstruction and at determining the fate of the gonads. Currently, due to the high risk of tumor development, surgeons resort to bilateral removal of the gonads in all patients with a female phenotype, but with a male karyotype.

Hormonal therapy for patients with females is carried out to prevent the manifestations of post-castration syndrome, which develops in patients who have had their gonads removed. Hormonal treatment consists of using only estradiol drugs - estrofema, progynova. In addition, it is possible to prescribe combined oral contraceptives, such as Mercilon, Novinet, Zhanine, Diane-35. To correct postmenopausal disorders, monophasic and biphasic hormone replacement therapy drugs are used. Consultation with an endocrinologist

Specialists at the Northwestern Endocrinology Center diagnose and treat diseases of the endocrine system. The center's endocrinologists base their work on the recommendations of the European Association of Endocrinologists and the American Association of Clinical Endocrinologists. Modern diagnostic and treatment technologies ensure optimal treatment results.

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

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

False hermaphroditism is distinguished when the structure of the genitals does not correspond to the gender of the gonads (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 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 unofficially believed that hermaphroditism occurs more often than doctors register it. Such patients are often hidden under other diagnoses (“gonadal dysgenesis”, “adrenogenital syndrome” and others), and also receive therapy in psychiatric departments, since their sexual disorders are incorrectly assessed by doctors as diseases of the sexual centers of the brain.

Classification

Depending on the mechanism of development of hermaphroditism, there are 2 main forms of it: impaired differentiation of the genitals (genital organs) and impaired differentiation of the sex glands, or gonads.

There are 2 types of genital differentiation disorders:

1. Female hermaphroditism (partial appearance of male sexual characteristics, 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 medications that have androgenic activity).
2. Male hermaphroditism (inadequate formation of male sexual characteristics; the karyotype looks like this: 46 XY):
   • testicular feminization syndrome (tissues are sharply insensitive to androgens, which is why, despite the male genotype, and therefore the person’s belonging to this sex, he looks like a woman);
   • deficiency of the enzyme 5-alpha reductase;
   • insufficient testosterone synthesis.

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

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

Causes of occurrence and mechanism of development of pathology

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

The causes of disembryogenesis, as a rule, are:

• mutations of genes in autosomes (non-sex chromosomes);
• pathology in the area of ​​sex chromosomes, both quantitative and qualitative;
• external factors affecting the fetus’s body through its mother at a certain stage of development (the critical period in this situation is 8 weeks): tumors in the mother’s body that produce male sex hormones, her taking medications with androgenic activity, exposure to radioactive radiation, various types of intoxication .

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

Symptoms

Let's look at each form 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 gender). The set of chromosomes in patients is female – 46 XX, the gonads are also female (ovaries), and are formed correctly. The external genitalia have characteristics 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 male ones.

The disease is also accompanied by severe disturbances in the level of electrolytes in the blood, which are associated with a deficiency of the hormone aldosterone. In addition, the patient may be diagnosed with diarrhea, which is caused by increased blood volume and high sodium levels in the blood, resulting from a deficiency of the 11-hydroxylase enzyme.

Male pseudohermaphroditism

As a rule, it manifests itself as androgen insensitivity syndrome. The pattern of inheritance is X-linked.

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

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

In patients with this pathology, the male sex glands (testicles) are formed correctly, but are located not in the scrotum (it is missing after all), but in the inguinal canals, the area of ​​the labia majora, and in the abdominal cavity.

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

Also, false male hermaphroditism may be a manifestation of disorders of testosterone synthesis caused by a deficiency of certain enzymes.

Disorders of gonadal differentiation

Pure gonadal agenesis syndrome

This pathology occurs due to point mutations on the X or Y chromosome. Patients are of normal height, their secondary sexual characteristics are underdeveloped, there is sexual infantilism and primary amenorrhea (initially no menstruation).

The external genitalia, as a rule, have the appearance of a woman. In men, they sometimes develop according to the male pattern.

Turner syndrome

It is caused by a 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 this anomaly, the processes of differentiation of the gonads and the function of the ovaries are disrupted. On both sides there is dysgenesis of the gonads, which are represented by striae.

Genes on non-sex chromosomes are also affected. The growth processes of somatic cells and their differentiation are disrupted. Such patients are always short and have many different other anomalies (for example, a short neck, pterygoid folds of the neck, high palate, heart defects, kidney defects, and others).

Testicular dysgenesis

There are 2 forms of it:

• bilateral (two-sided) – the testicles are underdeveloped on both sides and do not produce normal sperm; karyotype – 46 XY, however, abnormalities in the structure of the X chromosome are detected; the internal genital organs are developed according to the female type, the external ones can have characteristics 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 gonads are developed asymmetrically; on the one hand they are represented by a normal testicle with preserved reproductive function, on the other - by a testicle; in adolescence, some patients develop secondary sexual characteristics of the male type; When studying the chromosome set, as a rule, anomalies in the form of mosaicism are revealed.

True hermaphroditism

This pathology is also called bisexual gonad syndrome. This is a rare disease characterized by the presence of structural elements of both the testicle and ovary in the same person. They can be formed separately from each other, but in some cases, patients have so-called ovotestis - tissue of both sex glands in one organ.

The set of chromosomes in true hermaphroditism is usually normal female, but in some cases it is male. Sex chromosome mosaicism also occurs.

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

Diagnostic principles

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

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

Let's look at each of them in more detail.

Complaints and anamnesis

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

• whether the patient’s immediate family suffers from similar disorders;
• the fact of removal surgery in childhood (this and the previous points will lead the doctor to think about testicular feminization syndrome);
• characteristics 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 peers, and at 9-10 years old it stopped or slowed down sharply, the doctor should think about the diagnosis of “dysfunction of the adrenal cortex”, which arose against the background of increased levels of androgens in blood; this pathology may also be suspected in a child with).

Objective examination

The most important point here is to assess the patient's sexual development and body type. In addition to sexual infantilism, the detection of growth disorders and minor anomalies in the development of other organs and systems allows us to make a diagnosis of “Turner syndrome” even before karyotyping.

If, upon palpation of a man’s testicles, they are detected in the inguinal canal or in the thickness of the labia majora, male pseudohermaphroditism can be suspected. The discovery of the absence of a uterus will further convince the doctor of this diagnosis.

Laboratory diagnostics

The most informative method for diagnosing this pathology is karyotyping - a cytogenetic study of chromosomes - their number and structure.

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

In difficult diagnostic situations, a hCG test is performed.

Instrumental diagnostic methods

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

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

Principles of treatment

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

Also, in many clinical situations, such patients are recommended to undergo a bilateral gonadectomy - completely remove the gonads (testes or ovaries).

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

So, patients can be prescribed the following drugs:

• estradiol (one of its trade names is Proginova, there are others);
• COCs (combined oral contraceptives) - Mercilon, Logest, Novinet, Yarina, Zhanin and others;
• drugs for hormone replacement therapy for disorders that arise after the onset (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 results in sexual disorders;
• to stimulate the growth of the patient, people suffering from Turner syndrome are prescribed somatotropic hormone preparations (Norditropin and others);
• testosterone (omnadren, sustanon) – it is recommended to use it for the purpose of hormonal therapy for males.

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

S. Afonkin

Why aren't we hermaphrodites?

When looking for a suitable gift for March 8 or fulfilling some feminine whim with a slight sigh, sometimes you think about a question that seems strange at first glance: why did Mother Nature deign to divide the human race into halves that exist separately in space into female and male genders? We are so accustomed to this division that we perceive it almost as the only possible one.

Indeed, the animals, birds and fish around us, not to mention most other, more primitive creatures, are also dioecious. But some show us a completely different and seemingly much more reasonable solution. Both the female and male reproductive systems coexist peacefully in one body. Biologists called this phenomenon hermaphroditism.

The legend says that Hermaphrodite was the name of the son of Hermes and Aphrodite. The nymph Salmacis fell in love with the beautiful young man, but he did not reciprocate her feelings. Offended by the lack of attention, the nymph filed a complaint with Aphrodite herself, the mother of Hermaphrodite, to a higher authority. And since she held the position of the goddess of love on Olympus and was obliged to indulge the lovers, without thinking twice, with the determination characteristic of the gods, she merged the nymph and Hermaphrodite into a single being so that the latter would not run away from the girl.

Hermaphroditism in humans is extremely rare as a pathology at the genetic or hormonal levels. Among animals, however, there are species for which hermaphroditism is the norm. This is how, for example, some crustaceans and many worms are constructed.

A skeptic familiar with biology may note that self-fertilization, which is possible with hermaphroditism, is fraught with the accumulation and manifestation of genetic errors. After all, one of the tasks of the sexual method of reproduction is to thoroughly mix and shuffle the genetic material of the parents, which, in turn, increases the diversity of the offspring and prevents the manifestation of defects in genes. Thus, two books with the same text, published by different publishers and in different years, are unlikely to have the same typos, and if you read them simultaneously, you can restore the original text without distortion. Exactly the same correction occurs when any pair of chromosomes works together, one of which is inherited from the father and the other from the mother. Remember the long-term practice of politically advantageous dynastic marriages between close relatives often undermined the health of the reigning families. What can we say about self-fertilization, the most closely related marriage imaginable!

All this is true. However, in true hermaphrodites, self-fertilization rarely occurs. Most often, each such creature takes turns either as a male or as a female. If this were possible for people, the problems of emancipation and sexism of any discrimination caused by one or another sexual orientation and belonging to a particular gender would disappear. What kind of discrimination is there in hiring if the best foreman in the workshop, Sidorov, can go on maternity leave at any time! Probably, family problems would be solved easier if partners regularly changed roles. And in the event of divorces between hermaphrodite married couples, the children would simply be given to the spouse who gave birth to them. In extreme circumstances, self-fertilization can be used. For example, Robinson Crusoe would not be sad alone on a desert island, but would live with his family.

Needless to say, the benefits of hermaphroditism may seem tempting and even beneficial in some ways. However, with very few exceptions, all vertebrates are clearly divided into males and females, and we humans are divided into males and females. What's the matter? Why is dioeciousness more beneficial and evolutionarily attractive than hermaphroditism, besides the already mentioned genetic benefit?

In order to provide a theoretical basis for the phenomenon of heterosexuality, Doctor of Biological Sciences Vigen Artavazdovich Geodakyan created his own evolutionary theory of sex, which he has been fruitfully developing for a long time. Its essence boils down to the following.

Any system striving for self-preservation (for example, a biological species), located in an unstable environment that changes over time, tries to isolate itself from this environment and, ideally, become completely independent of surrounding conditions. The entire evolution of life on Earth is a long journey of struggle for independence from the whims of the environment. We have come a long way from Cambrian jellyfish drying up at low tide to modern man with his air conditioners and spacesuits.

In order to achieve such impressive successes, living beings constantly had to solve two conflicting problems. On the one hand, save and transmit over time already existing information about your own device. On the other hand, constantly respond to its changes, adapt to its changing properties, look for ways to counteract it and, ultimately, introduce appropriate adjustments to the information transmitted along the chain of generations. Because where can one get away from it, the environment?

At the dawn of evolution, probably even during the reign of single-celled organisms, the solution of these different strategic tasks was entrusted to the two opposite sexes, because giving two contradictory orders to one subordinate is stupid and ineffective. The female gender took upon itself the function of preserving and transmitting, while the male sex was exploring and making changes to what was being preserved. Figuratively speaking, the female gender took on a conservative role, and the male gender a revolutionary one.

Before the advent of technology, there was only one way to assess the habitat, at the cost of your life. If you suit your environment, live and reproduce. Sorry, you're not coming... In order to better fulfill its mission, the male sex has acquired a number of interesting properties. In males, there is a higher frequency of mutations of peculiar random tests according to the principle: “what will happen if you do this?” In males, all genetically determined characteristics appear more clearly and unambiguously. In humans, this phenomenon causes identical boy twins to look more alike than girl twins.

On the other hand, the phenotypic diversity of representatives of the entire male sex is generally greater than that of the female sex, again to make it easier for life to choose among them. For example, the incidence of early childhood mortality is higher among boys, but among long-livers there are more men than women. Wednesday had plenty to choose from.

Men are more likely to get into trouble, they have higher search activity and aggressiveness. Accident? Not at all! It is precisely this behavior that guarantees a high-quality “shooting” of poorly adapted individuals by the environment. The average life expectancy of men is shorter than that of women. Accident? No, the result of terrible environmental pressure on non-plastic men! The real life span of men is almost always less than that allotted to them by nature. In the same way, the average sparrow lives in freedom for less than a year, but quietly chirps in a cage for two decades. Which sparrows will survive until their second year in freedom and finally have a family? Shot, but not shot by the habitat.

If the water, fire and copper pipes of the environment have been successfully passed, if the environment has put its OTC stamp on this genotype, its carrier has every chance to actively spread his genes in the next generation, becoming the owner of a large harem or, at worst, just a father with many children. Have you ever wondered why nature has created such inequality between the sexes in the ability to leave offspring? The female gender is limited here. How many children can a woman give birth to in her lifetime? At best, ten or three? What about a padishah or a popular singer? Here the count can already reach thousands, if not tens of thousands of descendants.

A similar imbalance, only in the ratio of gamete sex cells, arose in the world of unicellular organisms. Even in the Cambrian ocean, one royally huge female gamete of an algae or some jellyfish was surrounded by a whole crowd of male gametes. For reproductive success, each of these gentlemen had to perform truly Herculean feats: spend a lot of energy for a long journey, swim a huge (from a cellular point of view) distance, find the desired cell by smell and merge with it before others. In fact, we observe the same picture during fertilization in most modern creatures.

Biologists talk about gametic selection occurring before fertilization. As a result of the intrauterine marathon, the vast majority of male sperm leave the race and simply do not reach the egg. Is their life ability tested at this stage? Quite possibly. They say that due to the effect of gametic selection, the frequency of genetic disorders in the offspring of people who survived the bombing of Hiroshima was much lower than predicted.

Female representatives are more flexible. This allows you to deftly escape environmental pressure and preserve the inherited set of genes, regardless of what you inherited. In other words, adapt to any life situation, explicitly or subconsciously thinking about only one thing: children. About the possibility and necessity of passing the baton of the genetic baton to them.

In a stable environment, the difference between the male and female sexes comes down to purely anatomical differences in the reproductive organs. In other words, sexual dimorphism is reduced to a minimum. However, as soon as the environment begins to change, the sexes immediately begin to diverge in a number of traits that may have adaptive significance. At first, the male gender begins to change at the cost of his life; he goes through possible options for responding to the changed conditions. Then, after selecting the most acceptable options, the “cautious” female gender begins to follow him. In other words, any characteristic expressed differently in the two sexes changes over time from its female form to its male form.

Looking at sexual dimorphism from this angle, one can clearly see the direction of evolutionary change in a species or an entire group of species. For example, in most vertebrates, males are larger than females. Consequently, the evolution of this group follows the path of a gradual increase in average body size. Take a look at the graph of the average height of people over the past few thousand years, and you will understand why men are, on average, slightly taller than women.

The futuristic, future-oriented nature of changes characteristic of the male sex is clearly manifested in the nature of congenital pathologies. In the female sex, these anomalies are atavistic in nature, that is, they remind us of stages of evolution that have already been passed through. In the male sex, they are directed to the future, that is, they seem to continue the vector of already emerging changes. For example, among newborns with three kidneys there are twice as many girls as boys, and vice versa, among newborns with one kidney, boys predominate. The same picture occurs in the case of an anomalous number of edges. In full accordance with the Old Testament, boys with fewer children are born more often than girls. Why is that? It's simple! The evolution of all chordates followed the path of reducing the number of homologous organs (including kidneys and ribs). Both sexes demonstrate the echoes of this process in different ways. The female one shows what was, the male one shows what will happen.