What Are the Different Klinefelter Syndrome Symptoms?

Klinefelter's syndrome is a congenital disease caused by a chromosomal abnormality. The patient is no different from normal people at birth and childhood. Only after adolescence, some pathological conditions are revealed. The appearance is male, but the testicles are small and the penis can develop to a certain degree, but it is also smaller than normal people.

Klinefelter syndrome

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Klinefelter's syndrome is a congenital disease caused by a chromosomal abnormality. The patient is no different from normal people at birth and childhood. Only after adolescence, some pathological conditions are revealed. The appearance is male, but the testicles are small and the penis can develop to a certain degree, but it is also smaller than normal people.

Klinefelter's syndrome is a congenital disease caused by a chromosomal abnormality. Normal men have a karyotype of 46, XY, and women have 46, XX. If X is increased in a man's karyotype, the disease is most commonly caused by 47, XXY. The patient is not different from normal people at birth and childhood. It is only when adolescents that some pathologies are revealed. The appearance is male, but the testicles are small and the penis can develop to a certain degree. The incidence of this disease is 1%. 2%, 1000/1 ratio among boys born.

Klinefelter's syndrome has many names, such as seminiferous tubular dysplasia, sclerosing seminiferous tubule degenerative disease, congenital testicular dysplasia, and primary microtesticular disease. The condition is mild before puberty and often goes unnoticed. The typical symptoms of puberty are small and hard testicles with a length of no more than 2 cm, about one-half the average length of a normal adult man. Slender body, delicate skin and long body hair. Beards are thin and about half show feminized breasts during adolescence, have low sexual function, and have no fertility. Some patients have mild mental retardation. Testis biopsy showed that the seminiferous tubules were hyaline degeneration, the basement membrane was significantly thickened, and the spermatogenic cells atrophied and even disappeared. Only supporting cells were found, and the lumen was mostly occluded. A large number of collagen fibers proliferated in the interstitial tissue of the testicles, with multiple clusters of interstitial cells and decreased intracellular lipid droplets. Plasma testosterone content is normal or low, estrogen production is increased, and the ratio between the two is imbalanced. In most cases, blood and urine gonadotropin levels increased significantly, especially the increase in FSH content was the most significant. The semen test has little or no sperm.

The testes of this patient are small and hard. Histological examination shows fibrosis and hyaline degeneration of the seminiferous tubules in the testis, occlusion of the lumen, azoospermia, hyperplasia or aggregation of mesenchymal cells, and poor function, and slow testosterone production Low blood testosterone concentration, low response to exogenous gonadotropin (hMG) stimulation, and patients with elevated levels of luteinizing hormone and follicle stimulating hormone in plasma and urine, and more luteinizing hormone secretion, will stimulate testicular mesenchymal cells, so that Estradiol increases, and the estradiol / testosterone ratio increases, so that the patient's breasts develop into female-type breasts.

Male patients have poor secondary sexual characteristics and feminization, such as no beard, less body hair, pubic hair distribution such as females, and small penis glans. About 25% of patients have breast development.
The patient is tall. The limbs are long, and some patients (about 1/4) have mental retardation. Some patients also have mental disorders and tend to suffer from schizophrenia. ^[1]

Laboratory tests showed increased estrogen, increased 19-progesterone, and hormonal imbalances may be related to the feminization of patients.
The diagnosis of this disease can be confirmed by history of reproductive system examination, medical genetic examination.

This disease can be treated with testosterone propionate 50 mg, intramuscular injection, 2 times a week, or methyl testosterone 5 mg, 3 times daily, can promote the development of male second sexual characteristics, promote sexual desire, and maintain normal sexual function. For mild and testicular developmental age, 2000 units of chorionic gonadotropin (HCG) can be used, intramuscularly, once every 2 days to promote testicular development, but the effect is not ideal. No matter what method of treatment is used, it can only promote the development of sexual function and secondary sexual characteristics, and it cannot restore fertility.
Testosterone supplementation treatment is given at the present stage to promote virilization of the patient, improve his mental state, enhance sexual function, and thereby improve the quality of life of the patient. The fertility problem of patients with this disease cannot be solved, and only artificial insemination with donor semen can be used.