Klinefelter's syndrome is a chromosomal pathology, which is caused by the presence of additional female chromosomes in the male karyotype. It is characterized by primary hypogonadism, small testicles, infertility, gynecomastia, and a shallow decrease in intelligence. A decisive role in the diagnosis of Klinefelter's syndrome (the photo will be presented in the article) is assigned to karyotyping.
In addition, they analyze the phenotypic trait, determining sex chromatin, urinary excretion of follicle-stimulating hormones, spermogram, and so on. Treatment involves hormonal therapy along with surgical correction of gynecomastia. True, a complete cure for the presented syndrome is, unfortunately, impossible today. Consider this disease in more detail.
What is he like?
Klinefelter's syndrome is a disomy or polysomy, against which malesThere are at least two X and one Y chromosomes. The disease in the modern world occurs with a frequency of one case per thousand newborn boys. The causes of Klinefelter's syndrome are discussed below. Among children who suffer from oligophrenia, the prevalence of this pathology is up to two percent. The syndrome was named after the American specialist Harry Klinefelter, who first described the disease in 1942. The karyotype of such patients with an extra X chromosome was determined as early as 1959. Since the leading clinical manifestation of the disease is hypogonadism, such patients are treated by specialists from the field of endocrinology and andrology.
What are the causes of the syndrome?
Similar to the case of Down's syndrome, Klinefelter's syndrome is associated with non-disjunction of chromosomes during meiosis, or it may be due to a violation of zygote division. At the same time, quite often, in sixty percent of cases, boys acquire an extra maternal X chromosome instead of the paternal one. Among the possible causes of this kind of chromosomal abnormality are also considered viral infections along with late pregnancy, inferiority of the regulatory mechanisms of the immune system of the father or mother.
In the presence of an extra X chromosome in Klinefelter's syndrome, aplasia of the testicular epithelium can develop along with their subsequent hyalinization and atrophy, which in adulthood will be accompanied by azoospermia or endocrine infertility. Among the causes of male infertility, the disease is about ten percent,something reproductive medicine professionals need to keep in mind at all times.
With the mosaic variant of the pathology, which is about ten percent, some of the cells have a normal karyotype, so men with this syndrome can have normally developed, and, in addition, functioning glands of the genital organs, capable of maintaining reproductive abilities.
How does the karyotype of Klinefelter syndrome manifest itself?
Symptomatics
A child born with this ailment appears with normal weight indicators and has the correct differentiation of the external genitalia and the usual size of the testicles. At an early age among boys with this syndrome, a frequent incidence of otolaryngological diseases can be observed. What are the other signs of Klinefelter syndrome? Patients are more prone to bronchitis and pneumonia than others. Such children, as a rule, lag behind in motor development, for example, they may later than others begin to hold their heads, stand, sit or walk. In addition, they have a delay in speech development. As early as the age of eight, boys with this syndrome may be overly tall along with a disproportionate physique, which will be expressed in the presence of long limbs and a high waist. In the prepubertal period, a person may have bilateral cryptorchidism.
Symptoms of moderate mental retardation, difficulty making contact with peers, and behavioral disturbances often occur in half of patientssuffering from Klinefelter's syndrome.
External signs
External signs that indicate the presence of this syndrome in a child, as a rule, appear already in the prepubertal or pubertal period of development. These include the eunuchoid body type. These children later develop secondary sexual characteristics. In addition, they observe testicular hypoplasia, small penis and gynecomastia. In the post-pubertal period, involution of the testicles is observed, which is accompanied by a loss of fertility.
When examining adolescents suffering from Klinefelter's chromosomal syndrome, they reveal the absence or, in extreme cases, sparse hair growth on the face, as well as in the armpit area. Pubic hair in such adolescents occurs according to the female type. Most patients are characterized by rare wet dreams and erections, they retain sexual desire, however, due to a pronounced androgen deficiency, most often by the age of thirty, libido decreases and impotence develops.
Features of patients suffering from the syndrome
Klinefelter's syndrome (pictured) is often accompanied by skeletal abnormalities, manifested as chest deformities and osteoporosis. In such patients, the bite is disturbed, and there are also congenital heart defects, and so on. Among other things, the predominance of the vagotonic reaction is typical, for example, bradycardia, acrocyanosis, sweating of the palms and feet. On the part of the organs of vision, nystagmus is often noted along with astigmatism and ptosis of the eyelids.
Sick people suffering from the syndromeespecially predisposed to the development of comorbidities such as:
- Epilepsy.
- Breast cancer.
- Cholelithiasis.
- Diabetes mellitus.
- Varicose veins.
- Hypertension along with obesity.
- Ischemic heart disease.
- Rheumatoid arthritis.
- Acute myeloid leukemia.
Such people may experience various mental illnesses in the form of manic psychosis and schizophrenia. There is evidence that patients with this syndrome are prone to alcoholism, homosexuality and drug addiction.
Intellectual and psychological characteristics of patients with the syndrome
The patients' IQ is below to above average. There is a disproportion between verbal abilities and the general level of intelligence, so that it is difficult for them to perceive a large amount of material by ear, as well as to build phrases with complex grammatical structures. This causes a lot of trouble in the learning process. This is also reflected in professional activities. Experts consider patients to be modest, timid people with low self-esteem and too high sensitivity.
Diagnosis of disease
Like other chromosomal abnormalities, Harry Klinefelter's syndrome in a fetus can be detected even at the stage of mother's pregnancy during invasive prenatal diagnosis. For this, amniocentesis, chorionic biopsy or cordocentesis is performed with further analysis of the karyotype.
Postnatal diagnosis of the syndrome is carried out by endocrinologists, andrologists and geneticists. As part of the study of sex chromatin, there are Bar bodies in the cells of the oral mucosa, which serves as a marker of the described deviation. Another characteristic feature is a special change in the skin pattern on the fingers. But still, the final diagnosis of the presence of chromosomal abnormalities can only be established after a karyotype study.
Ultrasound examination of the scrotum reveals a decrease in the total volume of the testicles. Against the background of the study of the androgenic profile, the amount of testosterone in the blood of a patient with Klinefelter's syndrome is lowered, however, an increase in the level of follicle-stimulating and luteinizing hormones is noted. When analyzing the spermogram, oligo- or azoospermia is detected. Morphological examination of materials obtained by testicular biopsy helps to identify hyalinosis of the seminiferous tubules along with hyperplasia and a decrease in the number of Sertoli cells, and, in addition, the absence of spermatogenesis.
During their lives, men suffering from this syndrome may seek help from andrologists, sexologists or endocrinologists with infertility problems, the presence of impotence, and, in addition, gynecomastia or osteoporosis, however, it often happens that the disease remains unrecognized.
Klinefelter Syndrome: treatment
Completely cure the syndrome today, alas, is not possible. Nevertheless, all patients need symptomatic and pathogenetic treatment. In childhood, such peopleprevention of infectious diseases is required along with hardening, exercise therapy, correction of speech disorders, and the like.
From adolescence, boys with this disease are prescribed lifelong sex hormone replacement therapy. As part of this, intramuscular injections are made using testosterone propionate. In addition, sublingual methyltestosterone is required, and so on. The behavior of early and adequate hormone therapy will prevent testicular atrophy, contributing to an increase in sexual desire, and, in addition, more or less normal development of secondary sexual characteristics. In the case of a pronounced increase in the mammary glands, such patients undergo an operation to correct gynecomastia.
In order to increase working capacity, and, in addition, social adaptation, as well as to prevent psychopathization of the individual, along with its asocial orientation, psychotherapy is prescribed.
Syndrome prevention and prognosis
Patients suffering from Klinefelter's syndrome have the same life expectancy as other people, however, the presence of a tendency to the appearance of chronic diseases can be a factor in the onset of early death. Most of these patients are infertile. The only possible option for the birth of children in a family in which the partner is sick is the use of donor seminal fluid. But, nevertheless, in the presence of a mosaic form of Klinefelter's syndrome, a man can still become a father on his own or use assisted reproductive technology, tofor example, in vitro fertilization.
To assess the likelihood of having a child with this syndrome, women are offered to undergo prenatal screening during pregnancy monitoring. True, even in cases of obtaining positive information about the presence of such a syndrome in the fetus, insisting that the woman terminate the pregnancy is absolutely unacceptable on the part of the gynecologist. Thus, the decision on the advisability of continuing the pregnancy should be taken exclusively by future parents. In the presence of a normal karyotype in parents, the risk of a child with a similar chromosomal abnormality is no more than one percent. Dispensary observation of patients suffering from Klinefelter's syndrome is carried out by endocrinologists.
Cytogenetic explanation for the occurrence of the deviation
The human chromosome set has 46 chromosomes, that is, there are 23 pairs in total. 44 chromosomes are somatic, and the remaining 23rd pair is sexual. It is she who determines whether a person belongs to the female or male sex. The female karyotype has two X chromosomes, while the male has an X and a Y.
The genetic essence of the described syndrome is that instead of the normal genotype, the patient will have one or even two extra sex chromosomes "X". The genotype of such a man will be wrong. Such a change in the set of chromosomes leads to certain defects in appearance, along with he alth problems and mental retardation. In the event that we consider thisaspect as inheritance, thanks to the ability to conduct DNA analysis, it turns out that in most cases, which is about sixty-seven percent, Klinefelter syndrome in humans can occur due to a violation of the division process during the formation of female reproductive cells.
More exact reasons for the formation of this disease have not yet been established. Most researchers deny the factors of influence of heredity, since men with this disease are almost always characterized by infertility. True, scientists note the following risk factors that contribute to the development of this pathology:
- Too young or, conversely, the mature age of the expectant mother.
- Living a pregnant woman in an unfavorable ecological environment.
- Marriage between blood relatives.
Life of a person with Klinefelter syndrome karyotype
The prevalence of the described syndrome takes quite an impressive position, namely the third place among the total spectrum of possible endocrine diseases. Only diabetes mellitus and thyroid problems are ahead of this pathology.
The life expectancy of a man affected by such a gene mutation, as already noted, is often the same as that of a he althy person. But, unfortunately, the life path with the presence of such a deviation in many cases is accompanied by certain he alth problems that can lead to early death. Doctors call the following complications that can result from this disease:
- Insufficient mental development that can reach the stage of debility.
- The development of mental disorders that lead to alcoholism, and, in addition, suicidal thoughts. An antisocial lifestyle may also be observed.
- Having a high risk of developing diabetes along with obesity.
- Worse congenital heart disease.
- Development of osteoporosis.
- Higher chance of developing malignancy, such as breast carcinoma, which can be triggered by gynecomastia.
One of the most important and difficult problems of those who suffer from the symptoms of Klinefelter's syndrome is infertility. Loss of fertility is caused by the presence of pathology of the genital organs along with the absence of he althy and viable spermatozoa in the seminal fluid.
