Male pseudohermaphroditism is a dysfunction of the phenotypic sex. It is characterized by the presence of a normal male karyotype and testicles, but the genitals are formed according to the type of woman. Male pseudohermaphroditism can have several forms, where the genitals have either a female or intersex structure. In most cases, the testicles are partially underdeveloped to varying degrees, there is one or another stage of development of male and female secondary sexual characteristics. In fact, male pseudohermaphroditism is a disorder in which the external genitalia are misdiagnosed, but the endocrine system functions as male hormones should work.
The content of the article:
Causes of male pseudohermaphroditism
Symptoms of male hermaphroditism
Diagnosis of male pseudohermaphroditism
Treatment of male pseudohermaphroditism
Male pseudohermaphroditism
Male pseudohermaphroditism is a complex problem that requires careful diagnosis. A study of the karyotype, sexual chromatin is prescribed. Ultrasound techniques, laparoscopy, tests to assess the amount of the hormone testosterone, estradiol, prolactin in the blood are used.
The discrepancy between the genital and gonodal sex in people who are genetically male is an interdisciplinary problem that doctors from many fields are trying to solve — andrologists, geneticists, gynecologists, endocrinologists. It is not possible to find out how widespread male pseudohermaphroditism is, since it is very difficult to diagnose all cases and symptoms.
Male pseudohermaphroditism is treated by prescribing hormones, gonadectomy and surgical correction of the patient’s external genitalia.
Causes of male pseudohermaphroditism
Experts agree that male pseudohermaphroditism is a consequence of either a violation of the synthesis and exchange of androgens, or their incorrect effect on target tissues. This problem can begin even at the stage of embryo formation — embryogenesis — when cells form the genitals.
The biosynthesis of androgens can be disrupted due to the improper functioning of enzyme systems responsible for the conversion of cholesterol into testosterone by a complex chemical process. Androgen synthesis can also be disrupted by a genetic mutation of the hormone or receptors, which further leads to aplasia of Leydig cells that produce testosterone. In addition, all such disorders are inherited by an autosomal recessive type of gene. Each such violation of androgen synthesis can lead to the fact that the process of formation of external genitalia will pass with problems, and a person will receive male pseudohermaphroditism.
This dysfunction of the body can be caused not only by a violation of the production of androgens, but also because of their indigestibility by tissues or their insensitivity to testosterone. In this case, the synthesis of testosterone occurs correctly, but the target cells do not perceive its actions, which means that there is no male-type human development. The degree of developmental impairment is determined by the degree of cell immunity.
Male pseudohermaphroditism in rare cases is caused by the syndrome of persistence of the Muller ducts. This means problems at the stage of sexual differentiation of the embryo, arising from the dysfunction of synthesis, or the influence of the anti-Muller hormone.
It is worth noting that in many ways male pseudohermaphroditism is unexplored, and this also applies to the causes that cause it.
Symptoms of male hermaphroditism
Polymorphism of the clinical picture is the reason why male pseudohermaphroditism is diverse in symptoms and manifestations. That’s why it’s hard to find out until the end, with the help of which signs he can reveal himself.
If the insufficiency of the enzyme systems responsible for the regular production of testosterone is determined, then symptoms include a small penis, underdevelopment of the scrotum, hypospadias. Incomplete masculinization is possible, which manifests itself if the testicles are found in the scrotum, or outside it. Violations in the system of enzyme systems can be so serious that they cause the formation of the boy’s genitals to be absolutely identical to the female type.
Insufficiency of 5a-reductase forms male pseudohermaphroditism, characterized by hypospadias of the perineum and scrotum. The patient may have a blindly terminating vagina. However, this symptom is combined with well-developed other organs of the male reproductive system: testicles, vas deferens, seminal vesicles and appendages. Body hair also passes through the male type, gynecomastia does not develop. It is also characteristic of the symptom that testosterone in the patient’s blood serum is absolutely normal.
When problems arise with androgen receptors, different phenotypes are formed, which may have male pseudohermaphroditism. Thus, the most common phenotype is testicular feminization, in which boys look like girls: a newborn has female genitalia, but male genes. Later, secondary sexual characteristics also develop: mammary glands are formed, axillary and pubic hair is weakly manifested. The testicles are usually located in the abdominal cavity, inguinal canals, or in the folds of the labia majora. Usually, patients who are diagnosed with this phenotype and male pseudohermaphroditism seek medical help for a completely different reason. The most common complaints are hernia, infertility, amenorrhea. This is not surprising, male pseudohermaphroditism of the phenotype of complete testicular feminization makes a person fully identify with a woman, in a physical and psychological sense.
Male pseudohermaphroditism of the phenotype of incomplete testicular feminization is ten times less common than the case described above. It is characterized by virilization of the external genitalia, for example, an enlarged clitoris, labia similar to the scrotum. There is also often hair loss over the patient’s upper lip, and the mammary glands are poorly developed. In addition, a blindly terminating vagina and testicles are diagnosed, the appendages of which are poorly developed.
Male pseudohermaphroditism can manifest itself in the form of Reifenstein syndrome, which is characterized by a variety of symptoms. Among them are hypospadias of the perineum and scrotum, gynecomastia, testicular hypoplasia, male infertility, critorchism, azoospermia. Minimal hair loss of body parts. Most patients with Reifenstein syndrome identify themselves with a man, which means prescribing a course of treatment aimed at eliminating hypospadias and gynecomastia, as well as lowering the testicle.
Male pseudohermaphroditism, which arose due to the persistence of the Muller ducts, is the most rare set of cases. No more than a hundred patients with this form of the disease are described. Symptoms are the presence of a uterus, fallopian tubes, and a vaginal process. At the same time, a person has secondary sexual characteristics of a man, a normally developed penis. Also, this type of male pseudohermaphroditism is characterized by a frequent encounter of the patient with problems of inguinal hernias and testicular tumors.
Diagnosis of male pseudohermaphroditism
Any abnormalities of the patient’s external genitals should be carefully inspected by several doctors: a geneticist, gynecologist, urologist, andrologist. Only on the basis of their conclusions and conclusions can a diagnosis of “male pseudohermaphroditism” be made. It is advisable to consult a doctor at the earliest possible date, as soon as the cause is identified. Examination by these specialists includes palpation of the testicles, assessment of the structure and structure of the genitals, the degree of development of the genitals, the location of the external opening of the urethra, the entrance to the vagina.
Ultrasound technologies are used — pelvic organs, abdominal cavity and inguinal canals are examined. This helps to understand whether female genitals or testicles are present in the patient’s reproductive system. Also important is the study of hormones. If male pseudohermaphroditism is suspected, testosterone, estradiol, prolactin are checked. Assess the dynamics of changes in their level and concentration.
Diagnosis is most often made in adolescence, when patients who consider themselves either men or women complain about the absence of signs of puberty, the normal functioning of the reproductive system, problems with sexual life. Infertility is also a common reason for going to the doctor.
Treatment of male pseudohermaphroditism
In order to determine the treatment necessary for the patient, a consultation is conducted on how exactly the patient identifies himself. Male pseudohermaphroditism in combination with male psychosexual orientation and the presence of male external genitalia requires treatment with testosterone. Additional operations may be performed that have a clinical and aesthetic character: penis elongation, testicular reduction, elimination of gynecomastia and hypospadias.
Testicular feminization, as a type of male pseudohermaphroditism, is treated by removing the testicles and conducting a course of replacement therapy with the use of estrogen. Additionally, operations can be performed to improve the quality of sexual life, which are necessary if the vagina is not large enough. Thus, surgical intervention can be vaginoplasty, colpoelongation, or correction of the clitoris.
Since male pseudohermaphroditism is a problem affecting both the physical and psychological health of the patient, it is necessary to start treatment immediately when problems are detected. The degree of pathology development, the patient’s self-identification, correction of external and internal signs are important. Of course, at every stage of treatment, the patient needs psychological support and proper upbringing within the family. Successfully corrected male pseudohermaphroditism enables the patient to live an absolutely full life, engage in full-fledged sexual contacts, and create a family. However, it is also worth noting that male pseudohermaphroditism means a dubious prognosis for human fertility, that is, there is a high probability that conceiving a child or getting pregnant will be very difficult for the patient.
