The testicular feminization syndrome: treatment and prevention

The syndrome of testicular feminization is a relatively rare congenital pathology, which is accompanied by a decrease in sensitivity to male sex hormones. In more severe cases, the body becomes completely insensitive to androgen. Symptoms of such a disease can have a different degree of severity, and treatment for patients is selected individually.

Of course, people who encounter such a disease are interested in additional information. What is testicular feminization syndrome? How to treat the disease and are there really effective therapies? Why does the disease develop? What are the patient projections? Many people are looking for answers to these questions.

Testicular feminization syndrome - what is it?

To begin with it is necessary to understand the meaning of the term. The syndrome of testicular feminization is a congenital disease that is caused by a mutation in the sex chromosome. The disease is accompanied by a loss of sensitivity to androgens, and the degree of decrease in susceptibility to male sex hormones can be different - this also determines the severity of the symptoms.

For example, with moderate resistance to androgens, the boy develops quite normally. Nevertheless, in adulthood, it may be that a man is infertile, since spermatozoa are simply not produced by his body.

Completely different looks like a complete loss of sensitivity to hormones against the backdrop of such a disease as the testicular feminization syndrome. The human karyotype remains masculine. Nevertheless, boys are born with the so-called false hermaphroditism, in which the formation of external genital organs by female type with the simultaneous presence of testicles and a normal level of testosterone in the blood. During puberty, these boys tend to develop female sexual characteristics( for example, the mammary glands are enlarged).

The syndrome of testicular feminization is a relatively rare pathology. For 50-70 thousand newborns there is only one child with a similar mutation. If we consider the cases of hermaphroditism, then in about 15-20% of patients the reason for the presence of atypical genital organs is associated with STF.By the way, in medicine, pathology appears under different names - the syndrome of insensitivity to androgens, Morris syndrome, male pseudohermaphroditism.

STF in women: is this possible?

Many people are interested in the question of whether the testicular feminization syndrome is possible in women. Since pathology is associated with a mutation in the Y chromosome, it can be accurately said that only male individuals are affected.

On the other hand, people who suffer from such a disease often look like women. Moreover, they perceive themselves accordingly. According to statistics, patients with false hermaphroditism often look like attractive, tall girls with a lean figure. People with a similar diagnosis are even credited with some special traits, including a logical and accurate mind, the ability to quickly orient themselves in situations, energy, efficiency and other "masculine" qualities.

Another interesting fact - many women involved in sports have a male karyotype. That's why professional sportswomen take saliva for DNA analysis - women( that is, men) with Morris syndrome are not allowed to compete.

By the way, the presence of a similar pathology is attributed to many historical personalities, including Joan of D'ark and the famous Queen of England Elizabeth Tudor.

The main causes of the development of the pathology

As already mentioned, Morris syndrome( testicular feminization syndrome) is the result of a defect in the AR gene. Such a mutation affects the receptors that react to androgen hormones, as a result of which they simply become insensitive. According to the research, the syndrome is transmitted along the X-linked recessive type, and the carrier of the defective genes, as a rule, is the mother. On the other hand, a spontaneous mutation in a child conceived by two completely healthy parents is possible, but such cases are recorded much less frequently.

In the process of embryonic development, the gonads( gonads) of the fetus are formed according to the karyotype - the child has full testicles. But because of the damage to the gene, the tissues are not sensitive( insensitive) to testosterone and dehydrosterone, which are responsible for the formation of the penis, scrotum, urethra, and prostate. At the same time, the sensitivity of tissues to estrogen is maintained, which determines the further development of the genitals by the female type( with the exception of the uterus, the fallopian tubes and the upper third of the vagina).

Complete form of the syndrome and its features

The testicular feminization syndrome( Morris) may be accompanied by a complete loss of receptor sensitivity to testosterone. In such cases, a child with a male genotype( there is a Y-chromosome), a male genital gland, but a female external genitalia, is born.

These children have no scrotum and penis, and the testes remain in the abdominal cavity. Instead, there is a vagina and external labia. Quite often doctors in such cases talk about the birth of a girl. For help, patients tend, as a rule, in adolescence with complaints about the absence of menstruation. By the way, the child secondary sexual characteristics develop according to the female type( absence of voice mutations, hair growth, enlargement of mammary glands).With a detailed examination, the doctor determines the presence of male sexual gonads and a certain set of chromosomes.

Often, the diagnosis of "testicular feminization syndrome" is put already by adult women who turn to a specialist about amenorrhea and infertility.

Incomplete form of Morris syndrome and the degree of its development

The testicular feminization syndrome in men may be accompanied only by a partial decrease in receptor sensitivity to testosterone. In such cases, the set of symptoms may be more diverse. In 1996, a classification system was created, according to which five main forms of this pathology are identified.

• First degree, or male type .The child has a pronounced male phenotype and develops without any marked abnormalities. Occasionally, adolescence is accompanied by an increase in mammary glands and uncharacteristic changes in the voice. But in patients there is always a violation of spermatogenesis, resulting in infertility.
• Second degree( mostly male type). Development occurs on a masculine, but with some deviations. For example, it is possible to form a micropeniasis and hypospadias( displacement of the outer orifice of the urethra).Often patients suffer from gynecomastia. There is also an uneven deposition of subcutaneous fat.
• Third degree, or development in an ambivalent type. Patients have a marked decrease in the penis. Modified and scrotum - sometimes in form it resembles the outer labia. There is a displacement of the urethra, and the testicles often do not descend into the scrotum. There are also characteristic female signs - breast augmentation, a typical physique( a wide basin, narrow shoulders).
• Fourth degree( predominantly female type) .Patients in this group have a female phenotype. The testicles remain in the abdominal cavity. Developed female genitalia, however, with some deviations. For example, a short "blind" vagina is formed in a child, and the clitoris is often hypertrophied and resembles a micropeniasis.
• Fifth degree, or female type .This form of ailment is accompanied by the formation of all female signs - the child is born a girl. Nevertheless, there are some deviations. In particular, patients often observe an increase in the clitoris.

These symptoms are accompanied by testicular feminization syndrome. Reproduction with such a pathology is impossible - the patient's body does not produce male germ cells, and female internal organs are absent or not completely formed.

According to statistics, people with a similar diagnosis often suffer from inguinal hernia, which is associated with a violation of passage of the testicles through the inguinal canal. Due to the displacement of the external opening of the urethra, the risk of developing various diseases from the urinary system( for example, pyelonephritis, urethritis, other inflammatory ailments) is increased.

Diagnostic procedures

The diagnosis of such an ailment is a long process. It includes many procedures:

• For the beginning the doctor collects an anamnesis. In the process of questioning, it is necessary to find out whether the child had any deviations in development after birth or during puberty. The family history is also analyzed( whether there were such deviations from relatives).
• An important stage is physical examination, during which the specialist can note the presence of abnormalities in the structure of the body and external genitalia, type of hair, etc. The growth and weight of the patient are measured. More research is needed to identify co-morbidities.
• Further karyotyping is carried out, a procedure that allows to determine the quantity and quality of chromosomes, which, in turn, makes it possible to find out the sex of the patient.
• If necessary, a molecular genetic study is performed, during which the number and types of damaged genes are determined.
• Obligatory examination is with a urologist - the doctor studies the structure and features of the external genitalia, palpates the prostate, etc.
• Blood is taken for analysis to check the level of hormones.
• Informative is also an ultrasound examination. This procedure makes it possible to identify abnormalities in the structure of internal genital organs, to detect undescended testicles, and to diagnose concomitant diseases.
• The most accurate information on the structure of internal organs can be obtained during magnetic resonance imaging or computed tomography.

Testicular feminization syndrome: treatment of

Therapy in this case directly depends on the age of the patient and the degree of insensitivity of the receptors to androgen hormones. Obligatory hormonal therapy is prescribed, which allows eliminating the androgen deficiency, helping to form correct secondary sexual characteristics, and eliminating possible anomalies in development.

It should be understood that a very important stage is psychotherapy - the patient needs constant consultations with a specialist. After all, according to statistics, false hermaphroditism quite often leads to the development of clinical depression. If the mutation is diagnosed accidentally in adulthood( it is a complete immunity of receptors to testosterone), the doctor may decide not to report this to a woman who lives a full life and identifies herself as a fair sex.

When is surgery necessary?

Many problems can be solved with the help of special procedures. Patients with a female phenotype show removal of the testicles. This procedure is necessary, because it prevents the development of hernias and the further development of male sexual characteristics. In addition, the procedure is the prevention of testicular cancer.

If the development of the body occurs according to the female type, then sometimes the plastic of the vagina and external genital organs is needed, which makes it possible to live sexually. Surgically, you can eliminate the displacement of the urinary tract.

In the development of a male-type patient, it is sometimes necessary to withdraw the spermatic ducts into the scrotum. Since many men with a similar diagnosis suffer from gynecomastia, they often undergo plastic breast operations that help restore the body to its natural forms.

Patient projections and possible complications

The testicular feminization syndrome( Morris) is not a direct threat to life. The organism quite normally functions even at full insensitivity to androgenic hormones. After medical and surgical intervention, the patient can live a full-fledged life of a woman, possessing a masculine karyotype. But there is a threat of developing testicular cancer that does not sink into the scrotum - in such cases, measures need to be taken. To prevent the development of cancer, surgical removal of the testes in the scrotum( if the patient has a male phenotype) or a complete removal of the glands( with a female phenotype).

As for other possible complications, that to their list it is possible to attribute impossibility of sexual contacts( incorrect formation of genital organs), disturbances of urination( in the process of development of the urino-genital system the urinary canal is shifted).Patients are infertile regardless of the phenotype. Do not forget about the social difficulties, because not every child and the more teenager can understand the characteristics of their own organism. Of course, the problems of the genital area, as well as the pathology of the excretory system, can be eliminated during surgical intervention. Forecasts for patients are favorable in any case.

Are there any preventive measures?

Unfortunately, there are no means that can prevent the occurrence of such an ailment. But, since the syndrome of testicular feminization is a genetic pathology, the risk of its development can be identified even at the stage of pregnancy planning - future parents need to pass tests.

As for patients with already diagnosed disorders, they need qualified medical care, as well as regular medical examinations, hormonal therapy.