Pathogenetic variants of Morris syndrome of testicular feminization. Testicular feminization. Treatment of testicular feminization syndrome

Androgen insensitivity syndrome (androgen resistance syndrome, Morris syndrome, testicular feminization syndrome; English Androgen sensitivity syndrome - AIS) - congenital endocrine disorders of sexual development caused by a mutation in the gene responsible for the androgen receptor. Such disorders vary depending on the structure and sensitivity of the abnormal receptor. Clinical phenotypes in these individuals range from a normal male physique with mild sperm abnormalities to a completely female physique despite the presence of a Y chromosome.

Androgen insensitivity is only clinically significant in genetic males (that is, people with a Y chromosome, or more specifically, the SRY gene).

The syndrome is characterized by X-linked recessive inheritance.

Complete androgen insensitivity syndrome (CAIS)

An individual with a completed syndrome complete androgen sensitivity syndrome ) has a feminine appearance, developed breasts and vagina, despite the 46XY karyotype and undescended testicles.

Story

Previously, the term used to denote a violation testicular feminization syndrome(English) ), which reflects a historically erroneous understanding of the cause of the disease. In 1953, American gynecologist John Morris gave the first complete description of the syndrome based on 82 cases collected from the medical literature, including two of his own patients. Term testicular feminization syndrome was chosen to reflect Morris's idea that the testes in patients produce a hormone that has a feminizing effect on the body. Currently, the cause of the disease is associated with the inactivity of androgens and the subsequent conversion of testosterone to estrogen. Several years before Morris, Lawson Wilkins had shown through his own experiments that the insensitivity of target cells to androgenic hormones was the cause of “male pseudohermaphroditism.” Wilkins' experiments clearly demonstrated the lack of therapeutic effect when women with the 46XY genotype were treated with androgens. Understanding the cause of the disease led to a gradual transition in nomenclature from the term “testicular feminisation syndrome” to “androgen resistance”.

additional information

• In the 13th episode of the 2nd season of the series "Doctor House" "Appearances are deceiving" (eng. Skin Deep) the main patient of the series is diagnosed with CAIS.
• Yamamura Sadako, the most famous character in the original cult book and film series The Ring, possessed AIS.
• According to some information, in particular the study of the causes of genius by Efroimson, Joan of Arc suffered from Morris Syndrome

In 1932, Dearborn described the clinical picture of “congenital indifference to pain” that occurs in a child of any age. Later, G. Fanconi (in 1957) supplemented the first description and presents it in the form known today.

Etiopathogenesis of congenital pain insensitivity syndrome

The etiopathogenesis is not clear. Apparently, the syndrome is a genetic abnormality that, for an unknown reason, is transmitted in a recessive manner. In numerous cases, a familial nature has also been established (frequent illnesses, especially among brothers).

The syndrome is also known by other names:

• congenital Fanconi analgesia;
• congenital general analgesia;
• congenital insensitivity to pain;
• congenital general indifference to pain (Ford-Wilkins).

Symptomatology of congenital pain insensitivity syndrome

There are 5 criteria on the basis of which a diagnosis can be made:

1. General analgesia (without neurovegetative reactions) to the action of certain painful factors.
2. Onset of analgesia from birth or immediately after birth.
3. No change in reflectivity.
4. No mental retardation.
5. Absence of histological disorders of the integument.

These criteria are in accordance with the clinical picture of the syndrome.

The clinic of the disease is presented:

Metacarpoparticular signs:

• fractures;
• bone lysis at the limb level;
• osteochondritis, affecting especially the lower extremities;
• arthropathy - exclusively on the lower extremities (somewhat similar to arthropathy in tabes or diabetes);
• osteomyelitis;
• increased laxity of ligaments;
• chronic dislocations;

Skin and mucous manifestations:

• injuries and burns of the extremities, with the possibility of recovery with a defect (residual effects).
• Infants and young children often bite their tongue, lips and fingertips;

Neuropsychiatric manifestations:

• convulsions;
• as an exception, delayed psychomotor development is noted.

Neurovegetative signs:

• sweating;
• hyperemia of the integument;
• increased heart rate;
• increase in blood pressure;
• erratic reactions of the pupils.

Differential diagnosis of congenital pain insensitivity syndrome

Congenital indifference to pain syndrome should be distinguished from Riley-Day syndrome (familial dysautonomia), in which patients present with a variety of symptoms associated with neurovegetative general dystonia. Hypoalgesia or analgesia is accompanied by osteoarticular signs similar to those of congenital general analgesia.

Course and prognosis of congenital pain insensitivity syndrome

The course and prognosis are severe, due to severe infectious complications layered with post-traumatic injuries or through auto-aggression.

Treatment of congenital pain insensitivity syndrome

There is no effective treatment. Anti-infective treatment with antibiotics is prescribed to combat frequent and various infectious complications.

The hereditary variant of male pseudohermaphroditism, in which the phenotype is female and the genotype is male, is known as testicular feminization.

The term comes from Latin, where testiculus literally means “male testicle” and femina means “woman”.

The scientific name of this pathology appeared in 1953, although its symptoms were described much earlier - in 1817.

Testicular feminization syndrome is a hereditary disease that affects representatives of the stronger half of humanity. It is characterized by a significant decrease or absolute loss of sensitivity to male sex hormones - androgens.

In practice, this means that at the genetic level a person is a man, although his external characteristics are female.

The severity of this pathology is directly related to the degree of androgen insensitivity.

If it is moderate, the boy’s external characteristics may be normal, but upon reaching puberty the person may face the problem of infertility due to the inability to produce sperm. If the syndrome is strongly expressed, boys are born with signs of false male hermaphroditism.

The reason for the development of the syndrome is a mutation in genes that carry important information about the formation of a receptor sensitive to male sex hormones.

Often this pathology is inherited by the next generation, but in some cases the mutation can occur spontaneously, even if both parents are completely healthy.

Classification

There are two main forms of testicular feminization, depending on the degree of sensitivity to male sex hormones:

• full;
• incomplete.

With the full form of the pathology, the child is born with a genetic identity of the male sex - that is, with a set of chromosomes 46, XY, as well as the presence of full male testicles.

However, at the same time, his external genitalia are developed according to the female type - the vagina and external labia are present, the male penis and scrotum are absent, and the testicles remain completely hidden in the abdominal cavity.

In such situations, a conclusion is made about the birth of a girl, but when she reaches 12-15 years of age, she has absolutely no menstruation, and upon further diagnosis it is revealed that the teenager belongs to the male sex.

The incomplete form of testicular feminization has two development options, in which the male or female type predominates.

Predominant development according to the female type means that at birth the child has female external genitalia, but during puberty the following changes appear:

• absolute absence of regular menstruation;
• development of secondary male sexual characteristics, which include broad shoulders and a narrow pelvic area, deepening of the voice, increased degree of hair growth;
• an increase in the size and shape of the clitoris, as a result of which it begins to resemble the male penis.

An incomplete form of testicular feminization with predominant male development, both the presence of insufficiently developed genital organs and fully formed ones. With this form of pathology in childhood, the boy’s development fully complies with the norms, but after puberty, many problems arise, including:

• male infertility caused by the absence of sperm;
• gynecomastia is a phenomenon in which the mammary glands increase in size according to the female type.

Dwarfism or – a pathology associated with dysfunction of the pituitary gland. Many people are interested in whether this disease can be cured.

You can find a list of foods high in tryptophan.

You will find out what congenital dysfunction of the adrenal cortex can lead to by reading.

Symptoms

The following clinical symptoms are characteristic of testicular feminization syndrome:

• the presence in a man of external genitalia that have developed according to the female type;
• gynecomastia is a phenomenon in which the development of the mammary glands is strongly expressed;
• the presence of a completely closed vagina;
• absence of the prostate, as well as the uterus and fallopian tubes;
• lack of hair growth in the axillary and pubic areas;
• absence of somatic developmental anomalies.

During the period of embryonic development, a male fetus develops full-fledged testicles, which produce sex hormones.

But if the tissues, as a result of mutation, lose sensitivity to them, further development of the genital organs occurs according to the female type.

Photo

The photos presented in the article will help you better understand what the external manifestations of testicular feminization syndrome are.

External symptoms of testicular feminization

Feminization - a person's appearance

Diagnostics

To diagnose the syndrome as accurately as possible, several effective methods can be used.

First of all, the doctor carefully analyzes the patient’s complaints, as well as the history of his disease.

He pays special attention to such points as:

• health status of the newborn;
• the presence of any anomalies in the development of the genital organs - in particular, the location of the urethra, the position of the testicles, etc.;
• features of the course of puberty;
• nature of sexual activity;
• suspicion of infertility.

For a more complete clinical picture, the doctor analyzes the family history, finding out whether close relatives had similar pathologies.

In order to identify abnormalities related to the development of secondary sexual characteristics, a full physical examination is performed. To determine signs of possible diseases of internal organs, procedures are carried out, including recording blood pressure, information about height and weight, and examination of the skin.

In order to accurately determine gender characteristics, a karyotyping procedure is carried out, which involves studying the number of chromosomes and their composition.

Molecular genetic research will allow identifying the presence of a mutation that provoked a decrease in the degree of tissue susceptibility to male sex hormones.

A urological examination reveals various anomalies in the development of the genital organs.

For the most accurate conclusion about the structure of the genital organs, magnetic resonance imaging is indicated.

Treatment

Treatment methods for testicular feminization depend on several factors - age, as well as the form of pathology and its manifestations.

At different periods of life, replacement therapy can be prescribed using synthetic analogues of female and male sex hormones.

In most cases, the testicles are removed surgically.

The main reasons for carrying out such an operation are:

• prevention of the development of malignant neoplasms;
• the presence of a severe cosmetic defect;
• presence of signs of inguinal hernia formation;
• prevention of virilization (the emergence of male sexual characteristics) with an incomplete form of testicular feminization with a dominant development of the female type.

In the absence of proper treatment, a number of complications may develop, including infertility, problems with social adaptation, the inability to have a full sexual life, and urination problems. To prevent negative consequences, you should visit a urologist every year for preventive purposes and follow all his recommendations.

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Androgen insensitivity is clinically significant only in genetic males (that is, people with a Y chromosome, or more specifically, the SRY gene).

Complete androgen insensitivity syndrome (CAIS)

An individual with a completed syndrome complete androgen sensitivity syndrome ) has a feminine appearance, developed breasts and a vagina, despite a 46XY karyotype and undescended testicles.

Story

Previously, the term used to denote a violation testicular feminization syndrome(English) ), which reflects a historically erroneous understanding of the cause of the disease. In 1953, American gynecologist John Morris gave the first complete description of the syndrome, based on 82 cases collected from the medical literature, including two of his own patients. Term testicular feminization syndrome was chosen to reflect Morris's idea that the testes in patients produce a hormone that has a feminizing effect on the body. Currently, the cause of the disease is associated with androgen inactivity and the subsequent conversion of testosterone to estrogen. Several years before Morris, Lawson Wilkins had shown through his own experiments that the insensitivity of target cells to androgenic hormones was the cause of “male pseudohermaphroditism.” Wilkins' experiments clearly demonstrated the lack of therapeutic effect when women with the 46XY genotype were treated with androgens. Understanding the cause of the disease led to a gradual transition in nomenclature from the term “testicular feminisation syndrome” to “androgen resistance”.

additional information

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Notes

1. Endocrinology / Ed. N. Avalanche. - 2nd ed. Per. from English - M.: Praktika, 1999. - P. 48-49. - 1128 p. - 10,000 copies. - ISBN 5-89816-018-3.
2. Hughes IA, Deeb A (December 2006). "Androgen resistance". Best Pract. Res. Clin. Endocrinol. Metab. 20 (4): 577–98. DOI:. PMID 17161333.
3. Stouffs K, Tournaye H, Liebaers I, Lissens W (2009). "Male infertility and the involvement of the X chromosome." Hum. Reprod. Update 15 (6): 623–37. DOI:. PMID 19515807.
4. Zuccarello D, Ferlin A, Vinanzi C, Prana E, Garolla A, Callewaert L, Claessens F, Brinkmann AO, Foresta C (April 2008). "Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility." Clin. Endocrinol. (Oxf) 68 (4): 580–8. DOI:. PMID 17970778.
5. Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS (June 1995). "Androgen receptor defects: historical, clinical, and molecular perspectives." Endocr. Rev. 16 (3): 271–321. DOI:. PMID 7671849.
6. Pérez-Palacios G, Chávez B, Méndez JP, McGinley JI, Ulloa-Aguirre A (1987). "The syndromes of androgen resistance revisited." J Steroid Biochem. 27 (4–6): 1101–8. DOI:. PMID 3320547.
7. Wilkins L. Heterosexual development. In: The diagnosis and treatment of endocrine disorders in childhood and adolescence. Springfield, IL: Charles C Thomas, 1950, pp. 256-279.
8. Oakes MB, Eyvazzadeh AD, Quint E, Smith YR (December 2008). “Complete androgen insensitivity syndrome—a review.” J Pediatr Adolesc Gynecol 21 (6): 305–10. DOI:. PMID 19064222.
9. .

Links

• - English-language site dedicated to AIS and similar disorders
• http://www.medterms.com/script/main/art.asp?articlekey=14430
• http://www.hawaii.edu/PCSS/biblio/articles/2000to2004/2004-ais-and-klinefelters.html

View this template Pineal gland Hypothalamus Pituitary Thyroid Adrenal glands Sex glands Parathyroid glands Islets of Langerhans Diffuse neuroendocrine system Others:

Excerpt describing Androgen Insensitivity Syndrome

And Anna was already looking around in admiration, only now noticing what wealth surrounded her in this marvelous treasury of Caraffa.
- Oh, what is this?! Is this really the Pope's library?.. And could you come here often, Mommy?
- No, my dear. Just a few times. I wanted to learn about wonderful people, and for some reason the Pope allowed me to do this.
– Do you mean Qatar? – Anna asked calmly. “They knew a lot, didn’t they?” And yet they failed to survive. The earth has always been very cruel... Why is that, mom?
– It is not the Earth that is cruel, my sun. These are people. And how do you know about Qatar? I never taught you about them, did I?
A “pink” embarrassment immediately flared up on Anna’s pale cheeks...
- Oh, forgive me, please! I just “heard” what you were talking about, and it became very interesting to me! So I listened. I'm sorry, there was nothing personal in it, so I decided that you wouldn't be offended...
- Surely! But why do you need such pain? What the Pope gives us is enough for us, isn’t it?
– I want to be strong, mom! I want not to be afraid of him, just as the Kathars were not afraid of their killers. I want you not to be ashamed of me! – Anna said, raising her head proudly.
Every day I was more and more amazed at the strength of spirit of my young daughter!.. Where did she get so much courage to resist Caraffa himself?.. What moved her proud, warm heart?
– Do you want to see anything else? – North asked softly. “Wouldn’t it be better to leave you two alone for a while?”
– Oh, please, Sever, tell us more about Magdalene!.. And tell us how Radomir died? – Anna asked enthusiastically. And then, suddenly coming to her senses, she turned to me: “You don’t mind, do you, Mom?”
Of course, I didn’t mind!.. On the contrary, I was ready to do anything just to distract her from thoughts about our near future.
– Please tell us, Sever! This will help us cope and give us strength. Tell me what you know, my friend...
The North nodded, and we again found ourselves in someone else’s, unfamiliar life... In something long ago lived and abandoned in the past.
A quiet spring evening was fragrant with southern scents before us. Somewhere in the distance the last reflections of the fading sunset were still blazing, although the sun, tired of the day, had long since set in order to have time to rest until tomorrow, when it would return to its daily circular journey. In the quickly darkening, velvety sky, unusually huge stars flared up more and more brightly. The world around us was gradually preparing itself for sleep... Only sometimes, somewhere, the offended cry of a lonely bird could suddenly be heard, unable to find peace. Or from time to time, the silence was disturbed by the sleepy barking of local dogs, thereby showing their vigilance. But otherwise the night seemed frozen, gentle and calm...
And only in the garden enclosed by a high clay wall were two people still sitting. It was Jesus Radomir and his wife Mary Magdalene...
They spent their last night... before the crucifixion.
Clinging to her husband, laying her tired head on his chest, Maria was silent. She still wanted to tell him so much!.. To say so many important things while there was still time! But I couldn’t find the words. All the words have already been said. And they all seemed meaningless. Not worth these last precious moments... No matter how hard she tried to persuade Radomir to leave a foreign land, he did not agree. And it was so inhumanly painful!.. The world remained just as calm and protected, but she knew that it would not be like that when Radomir left... Without him, everything would be empty and frozen...
She asked him to think... She asked him to return to her distant Northern country, or at least to the Valley of the Magicians, to start all over again.
She knew that wonderful people were waiting for them in the Valley of the Magicians. They were all gifted. There they could build a new and bright world, as the Magus John assured her. But Radomir didn’t want to... He didn’t agree. He wanted to sacrifice himself so that the blind could see... This was exactly the task that the Father placed on his strong shoulders. White Magus... And Radomir did not want to retreat... He wanted to achieve understanding... among the Jews. Even at the cost of his own life.
Not one of his nine friends, loyal knights of his Spiritual Temple, supported him. No one wanted to hand him over to the executioners. They didn't want to lose him. They loved him too much...
But then the day came when, obeying the iron will of Radomir, his friends and his wife (against their will) vowed not to get involved in what was happening... Not to try to save him, no matter what happened. Radomir fervently hoped that, seeing the clear possibility of his death, people would finally understand, see the light and want to save him themselves, despite the differences in their faith, despite the lack of understanding.
But Magdalena knew that this would not happen. She knew this evening would be their last.
My heart was torn to pieces, hearing his even breathing, feeling the warmth of his hands, seeing his concentrated face, not clouded by the slightest doubt. He was confident that he was right. And she could not do anything, no matter how much she loved him, no matter how fiercely she tried to convince him that those for whom he went to certain death were unworthy of him.
“Promise me, my dear, if they destroy me, you will go Home,” Radomir suddenly demanded very persistently. - You'll be safe there. There you can teach. The Knights Templar will go with you, they swore to me. You will take Vesta with you, you will be together. And I will come to you, you know that. You know, right?

Testicular feminization syndrome (Morris syndrome)– a hereditary disease characterized by the development of female sexual characteristics in the presence of a male karyotype (XY). The symptoms of this pathology have a wide spectrum of severity - from a phenotypically full-fledged woman to a full-fledged man with a number of intermediate options, on which the classification of this condition is based. Diagnosis of testicular feminization syndrome is made based on the results of a gynecological or urological examination, ultrasound examination of the pelvic organs, karyotype studies and molecular genetic tests. There is no specific treatment for this disease; various surgical interventions are used to improve the quality of life of patients.

General information

Testicular feminization syndrome is a genetic disease that affects individuals with a male karyotype and leads to the development of variously expressed female sexual characteristics, up to complete feminization. Disorders of this type were recorded a long time ago, immediately after the discoveries of the chromosomal basis of sex and karyotype studies, but this disease was first described by the American gynecologist John Morris in 1953. He studied the then-known (more than 80) patients with male pseudohermaphroditism and identified a number of familial cases, which allowed him to define testicular feminization syndrome as an X-linked recessive hereditary disorder. In some sources, this pathology can be found under the name Morris syndrome. It has now been established that the incidence of testicular feminization syndrome is approximately 1 case per 20-60 thousand male newborns, but the frequency of carriage of the pathological gene among women is unknown. This disease is the cause of almost 20% of cases of male pseudohermaphroditism and causes a significant proportion of all types of primary amenorrhea.

Causes of testicular feminization syndrome

Research in the field of modern genetics has made it possible to identify the molecular genetic mechanisms of testicular feminization syndrome - these turned out to be mutations of the AR gene located on the X chromosome. The product of expression of this gene is a protein receptor for testosterone and its metabolites (mainly dihydrotestosterone), the presence of which ensures the body’s response to male sex hormones. To date, more than 300 different types of AR gene mutations have been identified that lead to testicular feminization syndrome. All of them are recessive in nature, so women (by karyotype) who have a homologous X chromosome can only act as a carrier and transmit this disease to their sons with a 50% probability.

Due to disturbances in the structure of the AR gene, the receptor protein it encodes turns out to be defective, and depending on the type of mutation, its response to the effects of testosterone and similar compounds changes. In the most severe course of testicular feminization syndrome, the receptor becomes completely unable to interact with male sex hormones, so the body's cells lose sensitivity to them, retaining it to estrogens (mainly estradiol). This leads to the development of the body completely according to the female type with the presence and functioning of the testicles. Some other types of testicular feminization syndrome are caused by continued sensitivity to testosterone, but at extremely low levels, which causes a wide range of clinical manifestations. The activity of Sertoli cells, which secrete testosterone, remains unchanged in any form of testicular feminization syndrome and may even be slightly increased.

The extreme form of testicular feminization syndrome has the following pathogenesis - even at the stage of embryonic development, due to the lack of influence of testosterone due to the body’s insensitivity to it, the formation of female genital organs occurs. A “blind” vagina is formed, the split scrotum becomes the labia majora, and the rudiments of the phallus become the clitoris. At the stage of puberty, the cell response to testosterone is also completely absent, therefore, with testicular feminization syndrome (full type), the body tissues are influenced only by female sex hormones. This circumstance leads to the formation of pronounced secondary sexual characteristics - lush breasts, “model” forms, distribution of fatty tissue according to the female type, a thin voice. However, menstruation and, especially, the possibility of pregnancy in this case are completely excluded, since the patients do not have a uterus and the hormonal factors necessary for the menstrual cycle.

Classification and symptoms of testicular feminization syndrome

Testicular feminization syndrome is characterized by a wide range of manifestations and types of the disease; to systematize them, a special classification of this pathology was developed. First of all, all forms of this condition are divided into two groups - complete and incomplete. The full form of testicular feminization syndrome occurs in the complete absence of the body's sensitivity to testosterone and is characterized by a full-fledged female phenotype. Usually a healthy girl is born who, at first glance, does not have any developmental abnormalities. With the onset of puberty, such patients often become very beautiful (with a “model appearance”) due to the prevailing influence of estrogens. However, at the same time, they have no hair growth in the armpits and pubic area, and menarche does not occur - often it is amenorrhea at the age of 14-16 years that becomes the reason for going to the doctor, where, as part of a gynecological examination, testicular feminization syndrome is revealed.

The incomplete form of testicular feminization syndrome is characterized by a much more varied clinical picture. As a rule, the cause of this form of pathology is defects in testosterone receptors, which do not lead to a complete loss of sensitivity, but only to its significant reduction or impairment. According to the classification adopted in 1996, there are five main forms or degrees of incomplete testicular feminization syndrome:

1. 1st degree (male type) characterized by a typically male phenotype without any abnormalities. In extremely rare cases, a high-pitched voice and signs of gynecomastia may occur during adolescence. In this case, the processes of spermatogenesis are almost always disrupted, so patients with this type of testicular feminization syndrome experience male infertility.

2. 2nd degree (predominantly male type)– this variant of the disease is manifested by more pronounced disturbances in virilization and formation of the genital organs, although phenotypically the patients are men. They often have hypospadias, may develop a micropenis, or a combination of these signs. Patients with this variant of testicular feminization syndrome often have gynecomastia and uneven deposition of subcutaneous fat.

3. 3rd degree (ambivalent type)– characterized by a pronounced decrease in the penis, which becomes similar to the clitoris. The scrotum is so divided that its halves resemble the labia majora; hypospadias and cryptorchidism are often observed. With this type of testicular feminization syndrome, pelvic expansion, gynecomastia, and relatively narrow shoulders are also noted.

4. 4th degree (predominantly female type)– with this form of testicular feminization syndrome, patients are female in their phenotypic characteristics, but their clitoris is often hypertrophied, the urogenital sinus forms a short blind vagina. Often, with this variant of the disease, a disorder such as fusion of the labia is observed.

5. 5th degree (female type)– patients with this form of testicular feminization syndrome are phenotypically female; practically no signs of virilization are found in them, with the exception of a slightly increased size of the clitoris. During puberty, it can increase even more, reaching the size of a micropenis.

Patients with testicular feminization syndrome also often experience inguinal hernias due to impaired passage of the testicles through the inguinal canal. Complications of hypospadias can be a variety of inflammatory processes in the urinary system (urethritis, pyelonephritis). Cryptorchidism threatens future malignant degeneration of testicular tissue, which is the most severe complication of this disease.

Diagnosis and treatment of testicular feminization syndrome

The main methods for diagnosing this condition are gynecological or urological examination, ultrasound examination, study of hereditary history, molecular genetic analysis and determination of the level of sex hormones. First of all, it is possible to diagnose incomplete forms of testicular feminization syndrome of degrees 2-5, since disturbances in the structure of the genital organs are noticeable already at the birth of the child. During examination, a neonatologist may suspect the presence of a genetic disease and prescribe additional clarifying studies. The combination of such developmental defects with normal or even elevated levels of testosterone in the blood and cryptorchidism speaks in favor of the presence of testicular feminization syndrome.

Incomplete form of the disease of 1st degree and the full type of pathology in most cases are determined much later. The reason for men (based on their phenotypic characteristics) with testicular feminization syndrome to turn to specialists is often a suspicion of infertility. Semen analysis reveals azoospermia; the patient's history includes cryptorchidism (often surgically eliminated) and inguinal hernias. Confirming the presence of testicular feminization syndrome in this case is possible only with the help of genetic diagnostics. The full form of the disease is most often diagnosed at the age of 14-15, when girls turn to a specialist due to lack of menstruation. During a gynecological examination, they are diagnosed with a “blind” vagina, closed in the upper third; ultrasound studies reveal the absence of the uterus and its appendages. In this case, testes can be identified that are located at various stages of descent into the scrotum - located within the abdominal cavity, inguinal canal, and occasionally in the labia.

The concentration of testosterone in testicular feminization syndrome corresponds to the level of a healthy man or even slightly exceeds it. At the same time, the amount of estrogen does not reach the lower level of the norm for girls of the same age. A family history may reveal evidence of X-linked transmission of the disease. Molecular genetic diagnosis of testicular feminization syndrome is carried out by a geneticist using automatic sequencing of the AR gene sequence or other techniques. It is also possible to identify carriage of a pathological form of the gene in healthy women and prenatal diagnosis of this disease.

Treatment of full-type testicular feminization syndrome is often limited to simple removal of the testes followed by correction of hormonal levels (if necessary). This is required for the prevention of seminoma and other forms of malignant degeneration of testicular tissue. Such patients, who have been raised as girls since childhood, may need psychological help after diagnosis. Therapy for incomplete testicular feminization syndrome is characterized by a large number of plastic surgeries to recreate the usual appearance of the genitals, breasts, and optimal functioning of the urinary system. Patients with any form of this disease are infertile, which also often requires the help of psychologists.

Forecast and prevention of testicular feminization syndrome

The prognosis of testicular feminization syndrome regarding the survival of patients is quite favorable - with the full form of the pathology, patients can live a normal life as a woman, while having a male karyotype. Incomplete forms with correctly performed surgical correction of disorders and malformations often also do not lead to severe and life-threatening complications. A particularly high threat in testicular feminization syndrome is testicular cancer in the case of cryptorchidism, so it must be eliminated by removing the testes into the scrotum (in the case of a male phenotype) or removing the glands (in the case of a female phenotype). Prevention of testicular feminization syndrome is carried out through genetic detection of carriage of a pathological gene in case of a burdened hereditary history and, if confirmed, by prenatal diagnosis of this pathology.