Testicular feminization syndrome 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 the effects of androgens. The symptoms of such an ailment can have varying degrees of severity, and the treatment for patients is selected individually.
Of course, people who have experienced such a disease are interested in additional information. What is testicular feminization syndrome? How to treat the disease and are there really effective methods of therapy? Why does the disease develop? What are the prognosis for patients? Many people are looking for answers to these questions.
Testicular feminization syndrome - what is it?
First of all, it is worth understanding the meaning of the term. Testicular feminization syndrome is a congenital disease caused by a mutation insex 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 - the severity of symptoms depends on this.
For example, with moderate androgen resistance, outwardly the boy develops quite normally. However, in adulthood, it may turn out that a man is infertile, since his body simply does not produce sperm.
Complete loss of sensitivity to hormones looks completely different against the background of such an ailment as testicular feminization syndrome. The human karyotype remains male. Nevertheless, boys are born with the so-called false hermaphroditism, in which there is the formation of the external genitalia according to the female type with the simultaneous presence of the testicles and a normal level of testosterone in the blood. During puberty, these boys tend to develop female sexual characteristics (eg, breast enlargement).
Testicular feminization syndrome is a relatively rare pathology. For 50-70 thousand newborns, there is only 1 child with a similar mutation. If we consider cases of hermaphroditism, then in about 15-20% of patients the cause of the presence of atypical genital organs is associated precisely with STF. By the way, in medicine, pathology appears under different names - androgen insensitivity syndrome, Morris syndrome, male pseudohermaphroditism.
STF for females: is it possible?
Many people are interested in the question of whether testicular feminization syndrome is possible in women. Since the pathology is associated with a mutation in the Y chromosome, it can be said for sure that only males are affected.
On the other hand, people suffering from this 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 thin figure. People with this diagnosis are even credited with some special character traits, including a logical and accurate mind, the ability to quickly navigate situations, energy, efficiency and other "male" qualities.
Another interesting fact is that many women involved in sports have a male karyotype. That is why professional athletes take saliva for DNA analysis - women (that is, men) with Morris syndrome are not allowed to compete.
By the way, the presence of such a pathology is attributed to many historical figures, including Joan of Arc and the famous Queen of England Elizabeth Tudor.
Main causes of pathology
As mentioned, Morris syndrome (testicular feminization syndrome) is the result of a defect in the AR gene. Such a mutation affects the receptors that respond to androgenic hormones, as a result of which they simply become insensitive. According to studies, the syndrome is transmitted in an X-linked recessive type, and the carrier of defective genes,usually the mother. On the other hand, a spontaneous mutation is also possible in a child conceived by two completely he althy parents, but such cases are recorded much less frequently.
In the process of embryonic development, the gonads (sex glands) of the fetus are formed according to the karyotype - the child has full-fledged testicles. But due to gene damage, 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 estrogens is preserved, which causes the further development of the genital organs according to the female type (with the exception of the uterus, fallopian tubes and the upper third of the vagina).
The full form of the syndrome and its features
Syndrome of testicular feminization (Morris) may be accompanied by a complete loss of sensitivity of receptors to testosterone. In such cases, a child is born with a male genotype (there is a Y chromosome), male gonads, but female external genitalia.
Such children have no scrotum and penis, and the testicles 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. Patients seek help, as a rule, in adolescence with complaints of the absence of menstruation. By the way, in a child, secondary sexual characteristics develop according to the female type (lack of voice mutations, hair growth, enlargement of the mammary glands). With a detailed examination, the doctor determines the presence of male genital gonads and a certain set ofchromosomes.
Often, the diagnosis of "testicular feminization syndrome" is already made by adult women who turn to a specialist for amenorrhea and infertility.
Incomplete form of Morris syndrome and the degree of its development
Syndrome of testicular feminization in men may be accompanied by only a partial decrease in the sensitivity of receptors 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 distinguished.
- First degree, or male type. The child has a pronounced male phenotype and develops without any pronounced abnormalities. Occasionally, in adolescence, there is an increase in the mammary glands and uncharacteristic changes in the voice. But patients always have impaired spermatogenesis, resulting in infertility.
- Second degree (predominantly male type). Development occurs according to the male type, but with some deviations. For example, the formation of a micropenis and hypospadias (displacement of the external opening of the urethra) is possible. Often patients suffer from gynecomastia. There is also uneven deposition of subcutaneous fat.
- Third degree, or ambivalent development. Patients have a marked reduction in the penis. The scrotum is also modified - sometimes in shape 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 characteristicfemale signs - breast enlargement, typical physique (wide pelvis, narrow shoulders).
- Fourth degree (predominant female type). Patients from this group have a female phenotype. The testicles remain in the abdominal cavity. Female genital organs develop, however, with some deviations. For example, a child develops a short "blind" vagina, and the clitoris is often hypertrophied and resembles a micropenis.
- Fifth degree, or female type. This form of the disease is accompanied by the formation of all female characteristics - a child is born a girl. However, there are some deviations. In particular, patients often experience clitoral enlargement.
It is these symptoms that accompany 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 fully formed.
According to statistics, people with a similar diagnosis often suffer from inguinal hernias, which is associated with impaired 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 of the urinary system (for example, pyelonephritis, urethritis, and other inflammatory diseases) is increased.
Diagnostic procedures
Diagnosis of such a disease is a long process. It includes many treatments:
- To begin with, the doctor collects an anamnesis. During the survey, you need to find out if the child had anythen developmental abnormalities after birth or during puberty. The family history is also analyzed (whether there were such deviations in relatives).
- An important stage is also a physical examination, during which a specialist can note the presence of deviations in the structure of the body and external genital organs, type of hair growth, etc. The patient's height and weight are measured. More research is needed to identify comorbidities.
- Further, karyotyping is carried out - a procedure that allows you to determine the quantity and quality of chromosomes, which, in turn, makes it possible to determine the gender of the patient.
- If necessary, a molecular genetic study is carried out, during which the number and types of damaged genes are determined.
- Examination by a urologist is obligatory - the doctor studies the structure and features of the external genital organs, palpates the prostate, etc.
- A blood test is taken to check hormone levels.
- Ultrasound is also informative. This procedure makes it possible to identify abnormalities in the structure of the internal genital organs, detect undescended testicles, and diagnose concomitant diseases.
- The most accurate information about the structure of internal organs can be obtained during magnetic resonance or computed tomography.
Testicular feminization syndrome: treatment
Therapy in this case directly depends on the age of the patient and the degree of insensitivityandrogen hormone receptors. Hormone replacement therapy is mandatory, which allows you to eliminate androgen deficiency, help form the correct secondary sexual characteristics, and eliminate possible developmental anomalies.
It should be understood that psychotherapy is an extremely important stage - the patient needs constant consultations with a specialist. Indeed, according to statistics, false hermaphroditism quite often leads to the development of clinical depression. If the mutation is diagnosed by chance in adulthood (we are talking about complete immunity to testosterone receptors), then the doctor may decide not to report this to a woman who lives a full life and identifies herself as a representative of the fair sex.
When is surgery needed?
Many problems can be solved with special procedures. In patients with a female phenotype, removal of the testicles is indicated. Such a procedure is necessary, because it helps prevent 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 organism occurs according to the female type, then sometimes plastic surgery of the vagina and external genitalia is necessary, which makes it possible to live a sexual life. Surgery can correct the displacement of the urinary canal.
When a patient develops into a male pattern, it is sometimes necessary to bring the seminal ducts into the scrotum. Since many men with a similar diagnosis sufferfrom gynecomastia, breast plastic surgery is often performed to help restore the body to its natural shape.
Prognosis for patients and possible complications
Testicular feminization syndrome (Morris) is not a direct threat to life. The body functions quite normally even with complete insensitivity to androgenic hormones. After medical and surgical intervention, the patient can live a full life as a woman, having a male karyotype. But there is a risk of developing testicular cancer that does not descend into the scrotum - in such cases, measures must be taken. To prevent the development of cancer, surgical removal of the testes into the scrotum (if the patient has a male phenotype) or complete removal of the glands (if the patient has a female phenotype) is performed.
As for other possible complications, their list includes the impossibility of sexual intercourse (improper formation of the genital organs), urination disorders (during the development of the genitourinary system, the urinary canal is displaced). Patients are infertile regardless of phenotype. Do not forget about social difficulties, because not every child, and even more so a teenager, manages to understand the characteristics of his own body. Of course, the problems of the genital area, as well as the pathology of the excretory system, can be eliminated during surgery. The prognosis for patients is favorable in any case.
Are there any preventive measures?
Unfortunately, there are no remedies that can prevent the occurrence of such an ailment. But, since testicular feminization syndrome is a genetic pathology, the risk of its development can be identified even at the stage of pregnancy planning - future parents need to be tested.
As for patients with already diagnosed disorders, they need qualified medical care, as well as regular medical examinations, hormone therapy.
