Genetic diseases

Klinefelter's syndrome

Klinefelter's syndrome

Klinefelter Klinefelter's syndrome - often occurring inherited genetic disorder caused by a change in the number of chromosomes.The disease is found only in males and is most clearly begins to emerge during puberty in the formation of secondary sexual characteristics.Klinefelter's syndrome occurs with a frequency of 1: 500/600 men, and it has been observed that the more s mother at the time of the child's birth, the risk becomes much higher than the birth of her baby with this syndrome

Klinefelter's syndrome symptoms and signs

Prior to the onset of puberty the syndrome almost does not manifest itself.Boys develop and grow as a whole as all normal children, but sometimes there may be mental retardation (debility) and mental development.Inherent features of Klinefelter syndrome are beginning to emerge in the Klinefelter reaching puberty: there is underdevelopment of the testicles (a very dense and small), very small penis size, pubic and body hair occurs on the face of female type, greatly

enlarged breasts;It observed in sperm or absence, or a significant decrease in number of sperm that subsequently leads to infertility.Klinefelter's syndrome and is characterized by the appearance of the patient: eunuchoid body type (wide hips, narrow shoulders), quite tall, long legs.In some cases, there are violations of mental activity (often with age).People with Klinefelter syndrome usually suffer more often breast cancer, varicose veins, and pulmonary diseases.Also, patients with this syndrome has various behavioral problems: indifference to everything around him alternating with aggressiveness

Klinefelter's syndrome diagnosis

diagnosis of Klinefelter's syndrome is set based on the results of chromosomal analysis and the typical appearance of the patients.In cases where a man has not been pronounced manifestations of the disease, and the suspicion of his presence is still there - it is diagnosed sperm to identify morphological structure of sperm

Klinefelter's syndrome treatment

in treating the syndrome Klinefelter veryits diagnosis is important to reach puberty and timely prevention of disorders of sexual dysfunction and pubertal development.Depending on the severity of the disease, amputation may be indicated breast (mastectomy).In the presence of clinical signs of endocrine testicular failure shows the use of male hormones.

Today, the most effective method to minimize virtually all manifestations of Klinefelter syndrome is several courses of hormone therapy in the form of injections of methyltestosterone (a synthetic analog of testosterone).The most tangible results such treatment yields if Klinefelter syndrome was diagnosed before the age of ten years.When

quite rare mosaic form of the syndrome, the patient retained the ability to have children, but it is preliminary necessary to seek genetic counseling, since this chromosomal abnormality can be transmitted by inheritance to his children.

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