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. Symptoms of such an ailment can have a different degree of severity, and treatment for patients is selected individually.
Of course, people who are faced with a similar 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 prognoses for patients? Many are looking for answers to these questions.
Testicular feminization syndrome - what is it?
To begin with, it’s worth understanding the meaning of the term. Testicular feminization syndrome 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 - the severity of symptoms depends on this.
For example, with moderate resistance to androgens, the outwardly boy develops quite normally. Nevertheless, in adulthood, it may turn out that the man is infertile, since spermatozoa are simply not produced by his body.
The complete loss of sensitivity to hormones looks quite different on the background of such an ailment as testicular feminization syndrome. The human karyotype remains masculine. Nevertheless, boys are born with the so-called false hermaphroditism, in which a female type of external genitalia is observed with the simultaneous presence of testicles and normal testosterone levels in the blood. During puberty , these boys usually develop female sexual characteristics (for example, the mammary glands enlarge).
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 with STF. By the way, in medicine, pathology appears under different names - androgen insensitivity syndrome, Morris syndrome, male pseudohermaphroditism.
Female STF: is this 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, we can say for sure that only males are susceptible to it.
On the other hand, people suffering from such an ailment 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 a similar diagnosis are even credited with some special character traits, including a logical and accurate mind, the ability to quickly navigate the situation, energy, efficiency and other “male” qualities.
Another interesting fact is that many women involved in sports have a male karyotype. That is why saliva is taken from professional athletes 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.
The main causes of the development of pathology
As already mentioned, Morris Syndrome (Testicular Feminization Syndrome) is the result of an AR gene defect. A similar mutation affects receptors that respond to androgen hormones, as a result of which they simply become insensitive. According to studies, the syndrome is transmitted by the X-linked recessive type, and the mother is usually the carrier of defective genes. On the other hand, a spontaneous mutation is possible in a child conceived by two completely healthy parents, but such cases are recorded much less frequently.
In the process of embryonic development of the gonad (gonads) of the fetus are formed according to the karyotype - the child has full testes. But due to 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, tissue sensitivity to estrogens remains, which determines the further development of the female genital organs (with the exception of the uterus, fallopian tubes and the upper third of the vagina).
The full form of the syndrome and its features
Testicular feminization syndrome (Morris) may be accompanied by a complete loss of receptor sensitivity to testosterone. In such cases, a child is born with a male genotype (there is a Y chromosome), male genital glands, but female external genital organs.
Such children lack the scrotum and penis, and the testes remain in the abdominal cavity. Instead, there is a vagina and labia majora. 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 sex gonads and a specific set of chromosomes.
Often, the diagnosis of testicular feminization syndrome is given to adult women who turn to a specialist for amenorrhea and infertility.
Incomplete form of Morris syndrome and the degree of its development
Testicular feminization syndrome in men can only be accompanied by 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 deviations. Occasionally, an increase in the mammary glands and uncharacteristic changes in the voice are observed in adolescence. But patients always have a violation of spermatogenesis, resulting in infertility.
- The second degree (mainly male type). Development takes place according to the male type, but with some deviations. For example, the formation of micropenis and hypospadias (displacement of the external opening of the urethra) is possible. Often, patients suffer from gynecomastia. Uneven deposition of subcutaneous fat is also observed.
- The third degree, or development of an ambivalent type. Patients have a marked decrease in the penis. The scrotum is also modified - sometimes in shape it resembles the external labia. There is a displacement of the urethra, and the testes often do not descend into the scrotum. Characteristic female signs are also noted - breast enlargement, typical physique (wide pelvis, narrow shoulders).
- Fourth degree (predominantly female type) . Patients from this group have a female phenotype. The testes remain in the abdominal cavity. Female genital organs develop, however, with some deviations. For example, a short “blind” vagina is formed in a child, 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 signs - the child is born a girl. However, some deviations exist. In particular, an increase in the clitoris is often observed in patients.
These are the symptoms that accompany testicular feminization syndrome. Reproduction with such a pathology is impossible - the patient’s body does not produce male reproductive cells, and female internal organs are absent or are 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 from the urinary system (for example, pyelonephritis, urethritis, and other inflammatory ailments) is increased.
Diagnostic procedures
Diagnosis of such an ailment is a long process. It includes many procedures:
- To begin with, the doctor collects an anamnesis. During the survey, you need to find out if the child had any developmental abnormalities after birth or during puberty. The family history is also analyzed (whether there have been similar deviations in relatives).
- An important step is a physical examination, during which a specialist can note the presence of deviations in the structure of the body and external genital organs, the type of hair growth, etc. The patient’s height and weight are measured. More research is needed to identify concomitant diseases.
- In the future, karyotyping is carried out - a procedure that allows you to determine the number and quality of chromosomes, which, in turn, makes it possible to find out the gender of the patient.
- If necessary, a molecular genetic study is conducted, during which the number and types of damaged genes are determined.
- An examination by a urologist is mandatory - the doctor studies the structure and features of the external genital organs, palpates the prostate, etc.
- Blood is taken for analysis to check the level of hormones.
- The ultrasound examination 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 insensitivity of the receptors to androgen hormones. Necessarily prescribed hormone replacement therapy, which allows you to eliminate the deficiency of androgens, help the formation of the correct secondary sexual characteristics, eliminate possible abnormalities in development.
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 a mutation is accidentally diagnosed in adulthood (we are talking about the complete immunity of testosterone receptors), then the doctor may decide not to inform the woman who lives a full life and identifies herself as a representative of the fair sex.
When is surgery necessary?
Many problems can be solved using special procedures. Patients with a female phenotype are indicated for testicular removal. Such a procedure is necessary, because it helps to 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 body develops according to the female type, then sometimes plastic surgery of the vagina and external genital organs is necessary, which makes it possible to live a sexual life. Surgically, you can eliminate the displacement of the urinary canal.
When developing a male patient, it is sometimes necessary to bring the seminal ducts into the scrotum. Since many men with a similar diagnosis suffer from gynecomastia, plastic breast surgeries are often performed to help restore the body to its natural form.
Predictions 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 androgen hormones. After medical and surgical intervention, the patient can live the full life of a woman with a male karyotype. But there is a risk of developing testicular cancer that does not descend into the scrotum - in such cases, action is necessary. 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 (with a female phenotype) is carried out.
As for other possible complications, the impossibility of sexual intercourse (improper formation of the genitals), urinary disorders (in the process of development of the genitourinary system, the urinary canal is shifted to their list). Patients are infertile regardless of phenotype. Do not forget about social difficulties, because not every child and especially 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. Forecasts for patients are favorable in any case.
Are there preventative measures?
Unfortunately, there are no means 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, hormonal therapy.