Testicular abnormalities are a group of malformations of the male reproductive system, in which there are violations of the number (anorhism, monorhism), location (ectopia, cryptorchidism) or structure (hypoplasia) of the testes. The symptoms of the conditions are diverse – from asymptomatic course to severe endocrine disruptions and infertility. Diagnosis is made by physical examination, ultrasound examination, in some cases – determination of the level of male sex hormones in the blood. Treatment is selected depending on the type of pathology, most often surgical interventions, hormone therapy are used.
Q55 Other congenital anomalies [malformations] of the male genitalia
Testicular abnormalities of varying severity are common malformations in boys – according to medical statistics, they are registered at birth in 7-10% of infants. Cryptorchidism is the most common (almost half of all anomalies), the next most common are testicular ectopia, hypoplasia, monarchism. Polyorchism or anarchism are considered rare vices. Some of the anomalies can be independently corrected with the growth of the child (for example, cryptorchidism) and therefore do not require treatment until a certain point. Insufficient diagnosis and similarity of the clinical picture is occasionally the cause of incorrect determination of the type of defect – testicular ectopia and monarchism are confused with cryptorchidism, polyorchidism can be detected already at the onset of complications.
Reasons of testicular abnormality
There are a huge number of factors that can contribute to the development of defects of the male reproductive system. The type of anomaly also depends on the severity and nature of the etiological factor. It was possible to identify several groups of causes that lead to such violations. All of them have one or another effect on the intrauterine development of boys, provoking testicular abnormalities, and sometimes other malformations. Generally recognized risk factors for these pathologies are:
- Pathology of pregnancy. Prematurity is the main etiological factor of cryptorchidism, it is detected in more than a third of all infants born prematurely. In addition, the development of the defect is influenced by toxicosis in the mother, intrauterine fetal hypoxia and a number of other problems when carrying a child.
- Genetic and chromosomal disorders. Defects associated with the process of formation and development of the organs of the reproductive system are often caused by genetic changes. Most often, these are spontaneous mutations that lead to disorders of intrauterine fetal development.
- The impact of teratogenic factors. Some substances entering the mother’s body during pregnancy damage the fetus and lead to the development of testicular formation disorders. These can be plant and animal toxins, medicinal substances (nonsteroidal anti-inflammatory drugs, antibiotics), alcohol.
- Infections of the mother. Certain infectious diseases (measles, rubella, influenza, herpesvirus infection), which the mother carries during the process of carrying a child, contribute to the development of testicular abnormalities. This is due to the direct action of the pathogen on the fetus or due to the influence of the changed immunological activity of the mother’s body.
Some researchers attribute a certain increase in the number of cases of defects of the reproductive system observed in recent years to the changed environmental situation and other factors. Among them are such circumstances as an increase in the survival rate of premature babies, uncontrolled use of potentially teratogenic drugs, frequent hormonal disorders in women.
Pathogenesis of testicular abnormality
The pathogenesis processes in different types of testicular abnormalities differ, each of them is quite well studied. The cause of rare, but severe vices such as anarchism or monarchism are violations of the intrauterine bookmark of these organs. Under the influence of genetic, teratogenic or infectious factors, cell division in the zone of the primary gonads stops, connective tissue strands form instead of full-fledged sex glands.
More often these processes occur at 6-10 weeks of gestation – with an earlier occurrence, the defect captures not only the rudiments of the testicles, but also the kidneys located nearby. Confirmation of this mechanism of pathogenesis is the fact that monarchism is sometimes combined with the absence or underdevelopment of the kidney on the affected side.
Anomalies caused by an atypical location of the testicles (cryptorchidism, ectopia) are associated with a violation of the migration processes of the gonads. Glands are formed in the abdominal cavity in the immediate vicinity of the kidneys, after which, starting from the 6th month of pregnancy, they gradually descend into the scrotum. Slowing down this process becomes the cause of cryptorchidism. A factor that inhibits or stops testicular migration may be a slow growth of the spermatic cord, a mechanical obstacle in the inguinal canal, insufficient humoral stimulation. Testicular hypoplasia is more often caused by molecular genetic mechanisms – mutation of genes responsible for the release and reception of certain hormones and biologically active substances.
Classification of testicular abnormality
Testicular anomalies are a diverse group of malformations, each of their types is characterized by features of etiology, clinical manifestations, treatment approaches and prognostic data. This required the creation of a convenient classification system. Currently, one type of systematization of all forms of pathology is recognized in the medical environment, taking into account the maximum possible number of characteristic features of each of them. In accordance with it, three large etiological groups of anomalies are distinguished, divided into subgroups according to their clinical manifestations:
They are characterized by an unusual location of the sex glands while maintaining (in most cases) their normal structure and functional activity. They include the most common defects – cryptorchidism and testicular ectopia.
- Cryptorchidism. It is caused by the absence of testicles in the scrotum due to the delay in their migration – the sex glands are located in the inguinal canal, at its rings or in the abdominal cavity. There is a true form of the defect (the testicles did not descend earlier, it is not possible to lower them manually) and a false one, in which the sex glands were lowered, but then rose due to excessive contraction of the cremaster muscle.
- Testicular ectopia. It is diagnosed when the organ is located in an uncharacteristic place for it – under the skin of the thigh or inguinal region, at the root of the penis, inside the opposite side of the scrotum. The exact causes of the development are unknown.
This group of defects is manifested by a change in the number of glands – from their complete absence (anarchism) to the presence of three or more testicles. Some experts also refer here to synarchy or the fusion of two testicles with each other. These anomalies are caused by a serious violation of the intrauterine development of the genitourinary system, can be combined with underdevelopment of the seminal tubules, kidneys and ureters.
- Anarchism. The most severe form of testicular abnormality, in which the male glands are absent at all. This leads not only to infertility, but also to endocrine disorders – a sharp lack of male sex hormones, eunuchoidism.
- Monarchism. The absence of a testicle on the one hand is caused by approximately the same reasons as anarchism. The preserved gland is always compensatorily enlarged in size. In rare cases, the anomaly is combined with underdevelopment or absence of a kidney on the same side, which is associated with a complex unilateral violation of the intrauterine formation of the genitourinary system.
- Polyorchism. A malformation manifested by the presence of three or (extremely rarely) more testicles. Additional appendages of the testicle may also be detected. This form is dangerous with potential malignant degeneration of “superfluous” organs.
- Synarchism. A rare pathology in which the testicles fuse together during their development. It is always combined with cryptorchidism due to the inability to lower connected organs into the scrotum.
Anomalies of the structure
These include only one type of congenital malformations – testicular hypoplasia. The underdevelopment of tissues is caused by genetic factors, an autoimmune form of pathology is very rare. It can manifest itself only by infertility or endocrine disorders of different severity.
Most forms of this condition (with the exception of anarchy and polyorchism) are also left-, right- or two-sided – monarchism can be considered as one-sided anarchism. Some types of testicular abnormalities can be combined with each other in one patient. For example, hypoplasia is quite often manifested by cryptorchidism or ectopia. Prolonged cryptorchidism without surgical treatment leads to atrophy of the genital glands, but this phenomenon should be differentiated from true hypoplasia.
Symptoms of testicular abnormality
According to the clinical course, all types of this malformation can be divided into two groups – occurring mainly without endocrine disorders and always accompanied by such. The first group includes all forms of anomalies of location, mono- and polyorchism. The main manifestation of cryptorchidism and monarchism is the absence of male sex glands on one or both sides, a flattened or underdeveloped scrotum. During puberty, there may be pulling pains in the groin area, which increase with physical exertion or sexual arousal. Polyorchism may not manifest itself in any way until complications develop.
Such forms of testicular abnormality as anorhism and hypoplasia are always accompanied by endocrine disorders due to insufficient production of male sex hormones. They are especially difficult with complete underdevelopment of the genital glands – in childhood, patients have brittle bones, delayed replacement of baby teeth, pallor of the skin. Eunuchoidism develops – the complete absence of secondary male sexual characteristics. Hypoplasia of both testicles leads to a severe degree of hormonal insufficiency (as in anorhism), unilateral lesion may be manifested by a decrease in the size of one of the sex glands.
The most formidable complication of most forms of testicular abnormalities (cryptorchidism, ectopia, hypoplasia, polyorchism) is the malignant degeneration of the tissues of the affected sex gland. A tumor of this type (seminoma) is characterized by a high degree of metastasis and a very poor prognosis. With cryptorchidism or ectopia, there is a risk of twisting of testicular vessels with the development of necrosis, inguinal hernias often occur. Male infertility is also a frequent complication of such a defect, the probability of its occurrence ranges from 10-15% with unilateral cryptorchidism to 100% with a total absence of sex glands and bilateral hypoplasia.
Diagnostics of testicular abnormality
Most types of testicular abnormalities are quite simply diagnosed immediately after the birth of a child. However, without consulting an andrologist and a number of specific studies, it is impossible to unambiguously determine the type of defect – on the basis of a physical examination, it is easy to confuse cryptorchidism with anorhism or monarchism with unilateral ectopia. Therefore, the diagnosis of these conditions necessarily includes a whole list of methods:
- Physical examination. The specialist examines the scrotum area – the absence of the sex glands indicates the presence of pathology, especially in an adult or a child over the age of one year. When palpating the scrotum and inguinal region with cryptorchidism, it is sometimes possible to clarify the position of the testicle in the inguinal canal. The different size of the glands indicates unilateral hypoplasia.
- Ultrasound of the scrotum organs. By means of ultrasound examination, the absence of testicles is confirmed, for their detection in cryptorchidism, ultrasound of the abdominal cavity, inguinal region is used. Negative search results or the detection of additional glands indicates an anomaly in their number.
- CT and MRI of the pelvic organs. Computer and magnetic resonance imaging are used when ultrasound examinations are uninformative to confirm the diagnosis.
- Blood test for hormone levels. Determination of the level of sex hormones (testosterone) is used to assess the endocrine activity of the testicles. A low level is observed in anorhism, hypoplasia and complications of cryptorchidism.
- Testicular biopsy. Histological examination of tissues is necessary to detect hypoplasia, identify complications, and other forms of abnormalities in the development of the genitals.
Treatment of testicular abnormality
For the treatment of testicular malformations in andrology, many techniques have been developed, mainly of a surgical nature. Surgical interventions are used not only to correct disorders of the development of the reproductive system, but also to restore the aesthetic appearance of the scrotum, as well as to prevent complications. In some forms, conservative methods are used – for example, the intake of male sex hormones. The main methods of treating testicular abnormalities include the following methods:
- Surgical correction. It is more often used for cryptorchidism (orchipexia) and ectopia. The surgeon surgically installs the sex glands into the scrotum. The operation is performed by a patient over the age of 2 years.
- Surgical prevention. It is produced for hypoplasia and complicated forms of cryptorchidism. Most often, orchiectomy (removal of the testicle) is performed when the leg of the organ is twisted with the appearance of necrosis. Underdeveloped and atrophied glands are routinely removed to prevent seminoma.
- Aesthetic surgery. It is prescribed at the request of the patient after orchiectomy or with monarchism. To restore the normal shape of the scrotum, a silicone implant in the form of a ball is installed instead of the removed gland.
- Hormone therapy. In case of bilateral hypoplasia, anorhism, or removal of both testicles, hormone replacement therapy with testosterone preparations is prescribed to replenish their endocrine function. This makes it possible to develop normal secondary sexual characteristics in adolescents and, in some cases, to preserve sexual function.
In children younger than 24 months in the presence of cryptorchidism, correction of the defect can be carried out by the introduction of hormonal agents (human gonadotropin) – therapy allows to achieve testicular reduction without surgery in 30-50% of patients. As an alternative to hormone replacement therapy, a donor testicle can be transplanted to patients with underdevelopment of the genital glands. Infertility with unilateral hypoplasia can be eliminated by stimulating hormone therapy – it briefly improves the indicators of ejaculate, which can be frozen for use in IVF.
Forecast of testicular abnormality
Prognostic indicators of testicular abnormality relative to the survival of patients are relatively high – with proper treatment, most of them live a full life. The probability of male infertility depends on the specific form of malformation – it is inevitable with anorhism, complicated bilateral cryptorchidism and total testicular hypoplasia. In other cases, infertility is corrected by proper treatment and hormone therapy. Patients require regular monitoring by an andrologist or endocrinologist to monitor the hormonal background and prevent seminoma.