Klinefelter Syndrome - Men carry the female gene

Klinefelter XXY syndrome occurs in about 1/5000 male babies alive. Possible manifestations: undeveloped testes, infertility, learning difficulties, language delay .

What is Klinefelter syndrome?

According to the genetic law, the female chromosome is specified as XX, the male is XY. Klinefelter syndrome is a syndrome that occurs due to the fact that the chromosome does not dissociate in men, people with Klinefelter instead of having an X sex chromosome have 1 pair of X chromosomes (XXY) and at the same time suffer from Some risks of medical pathology.

Some major causes of Klinefelter syndrome

The cause of this syndrome is caused by an indissoluble error in the process of generating gametes in parents.

The main causes of this syndrome are due to the indissolubility error in the parenting process, including genital failure, enlargement of the breasts, and psychosocial disorders. This syndrome is a form of primary testicular failure, increasing gonadotropin levels due to a lack of feedback from the pituitary gland. Androgen deficiency also causes the proportions of the upper body parts like people with a fire

The rate of mutation occurred

According to the study, up to 50 - 60% of cases of Klinefelter syndrome without chromosome separation occur in mothers. 75% due to faecal reduction mitigation I. The remaining cases occurred due to non-dissociation in the father.

Common kernel types:

1. Add a copy of the X chromosome in each cell (XXY), the most common cause.
2. An extra X chromosome in some cells (Klinefelter mosaic syndrome), with fewer symptoms.
3. More than one copy of the X chromosome, very rare and lead to a serious form.

The effects of Klinefelter affect the health of patients

Klinefelter syndrome affects the patient's ability to develop, testicular underdevelopment, small size compared to normal people. Testosterone hormone in men reduces the risk of autoimmune disorders such as lupus erythematosus, rheumatoid arthritis, etc.

Depending on the extent of the patient's influence, the disease has different effects and manifestations. Usually, Klinefelter syndrome is not diagnosed until adulthood.

Men with this syndrome:

1. There is little or no sperm, which causes spermatogenesis and infertility, as well as malformations and hypogonadism in men with multiple X infections;
2. The hair on the face, armpits, pubic and body are sparse or absent; big breasts;
3. Testicular and small penis;
4. Reduce sexual pleasure; distribution of adipose tissue in a female fashion;
5. Reduce physical stamina;
6. Osteoporosis.

The loss of a spermatomy and Sertoli cells leads to a decrease in inhibin B, the hormone regulator FSH. For those with a low sperm count, birth control options are available and there is still a chance for fatherhood.

Not only affects the patient by sexual function, the addition of one or more X (or Y) chromosomes also causes various intellectual and cognitive abnormalities. Bone and cardiovascular abnormalities are also severe and the effect is faster than normal. The IQ index decreases by about 15 points for each X chromosome that exceeds the normal level. All major developmental areas, including language and coordination, expression, are also affected.

Signs and symptoms of Klinefelter syndrome

Usually, men with Klinefelter syndrome are undiagnosed for life, while others recognize differences in internal development that usually make the diagnosis in adulthood. People with the syndrome still live and live, have normal intelligence or have mental retardation (depending on the level), the mortality rate is not higher than that of normal people.

A few figures appear on the outside

New born babies have normal height, weight, and head circumference. Approximately 25% of children show signs of being dislocated (Clinodactyly), height is higher than average, long limbs and disproportionate, not in the normal proportion of the body.

About 40% of patients with taurodontism syndrome (enlarged teeth due to enlarged marrow) while in men (XY) only about 1%.

A few manifestations of wisdom

Up to 70% of patients are affected by mild mental and learning disabilities, language learning difficulties, delayed speech, short-term memory loss, dyslexia, reading disorders, reduced attention span. Patients experience some behavior of psychological disorders, anxiety, depression, neurological disorders (Neuchosis).

The risk of other conditions

1. In the later stages of puberty, about 30-50% of boys with Klinefelter syndrome develop secondary breast enlargement due to an increase in estradiol and an increase in the ratio of estradiol to testosterone. The risk of developing breast carcinoma is at least 20 times higher than that of the normal person.
2. Testicular dysplasia (small, firm testicles, size <10ml) may be present in post-pubertal patients.
3. Infertility, sterility can result from aplastic atrophy of the birth canal. Infertility is seen in all patients 47, XXX; In patients with mosaic 46, XY / 47, XXY may still be fertile.
4. Increased frequency of genital exogenous germ cell tumors such as embryonic carcinoma, primary mesothelioma and primary mediastinal germ cell tumors
5. Benign prostatic hyperplasia may be due to testosterone supply.

Methods for detecting Klinefelter syndrome

Detecting Klinefelter for fetus by NIPT - illumina screening method.

Right from pregnancy, there is the presence of free fetal DNA in the mother's blood, the rate of free DNA of the fetus varies by week of pregnancy (on average about 10%). NIPT-illumina performed a free DNA analysis of the fetus in maternal blood right from the 10th week of pregnancy to screen for hereditary syndromes, including sex chromosomal abnormalities that cause Klinefelter syndrome. . The test results are highly accurate - up to more than 99.9%.

Detect Klinefelter by DNA testing to diagnose genetic diseases

Genetic diagnostic testing is done by DNA analysis to detect chromosome abnormalities that cause genetic syndromes in which Klinefelter can be detected. Genetic testing can be done at any time, regardless of age, samples can be: a few drops of blood, hair with legs, nails, toenails . the person performing the test does not need to abstain, fast or do choose a time of testing (in the morning) like other blood tests.

Some other diagnostic methods

1. Quantitative measurement of hormone in the blood showed that the concentration of FSH, LH, estradiol increased in plasma, testosterone decreased in patients from 12-14 years old. Increased testosterone response when the hCG injection is below normal. Gonadotropinuria increased due to abnormal Leydig cell function, the ratio of hydroxyl proline / creatinine increased, reflecting decreased bone formation and increased bone resorption.
2. Imaging studies showed mitral valve prolapse on ultrasound, reduced density of lower limb bones, adhesion of tandem, and x-ray teeth.
3. Histological examination showed that: testes are small, the phenomenon of hyalinization, fibrosis and atrophy of the spermatogenesis with localized hyperplasia of Leydig cells are mostly degenerated. Phenomenon of rare sperm. In patients with mosaicism, hyaline degeneration and progressive degeneration of the spermatogenesis occurs after puberty despite the normal size of the testes and spermatogenesis at puberty, etc.

Direction of treatment Klinefelter

Although not curable, patients with Klinefelter syndrome, if detected early before puberty, are more likely to be treated with effects such as: hypogonadism, enlarged breasts, and support for conditions. treatment of psychosocial problems.

It can be said that androgen therapy is the most important treatment. Perform testosterone replacement therapy that starts at puberty to "correct" androgen deficiencies, yielding appropriate masculinity. Regular injections of testosterone boost strength and facial hair, shaping muscle tone, increasing libido, increasing testicle size, improving temperament, self-image and behavior, and protecting protection against premature osteoporosis .

Surgery may be indicated for gynecomastia. This expression causes stress, low self-esteem for the patient and increases the risk of breast cancer.

Treatment of infertility. Most men with Klinefelter syndrome cannot father because there is no or no sperm produced in the testes. For some men with minimal sperm production, a procedure called in vitro sperm injection (ICSI) may help. During ICSI, sperm is removed from the testes with a biopsy needle and injected directly into the egg.

Conclusion

Klinefelter syndrome occurs due to the abnormal number of sex chromosomes, the implementation of NIPT - Illumina noninvasive prenatal screening as early as week 10 is the necessary test so that the pregnant mother can determine the health status. The health of the fetus is correctly, so that the specialist can advise on timely treatment, the pregnant mother and her family will have the most appropriate fetal care directions to minimize risk is not worth it.