Patients with Klinefelter syndrome need to be treated in time and testosterone supplements are needed to promote masculinization, enhance the patient's sexual function, and thus improve the quality of the patient's sex life. If fertility is affected, artificial insemination is generally only possible through test tubes. Under normal circumstances, the probability of pregnancy with Klinefelter syndrome is relatively low, and active treatment is required in order to have the possibility of pregnancy. Klinefelter's syndrome, also known as Klinefelter's syndrome or congenital testicular dysgenesis, is a congenital disease caused by chromosomal abnormalities. The Chinese abbreviation is "Klinefelter's syndrome". The normal chromosome karyotype of men is 46, XY, and that of women is 46, XX. If there are more Xs in the chromosome karyotype of men, this disease will occur. The most common one is 47, XXY. The incidence of this disease is 1% to 2%, which is 1/1000 of boys born. The testicles of patients with this disease are small and hard. Histological examination shows fibrosis and hyalinization of the testicular seminiferous tubules, obstruction of the tubular lumen, azoospermia, proliferation or aggregation of interstitial cells, and poor function. Testosterone production is slow, blood testosterone concentration is low, and the response to exogenous gonadotropin (hMG) stimulation is low. However, the patient's plasma and urine luteinizing hormone and follicle-stimulating hormone are elevated, and the high secretion of luteinizing hormone will stimulate the testicular interstitial cells, increase estradiol, and increase the estradiol/testosterone ratio, thereby causing the patient's breasts to develop into female-type breasts. There is no difference between the patient and normal people at birth and in childhood. Only in puberty do some pathological changes appear. The patient looks like a man, but the testicles are small. The penis may develop to a certain extent, but it is also smaller than that of normal people. Secondary sexual characteristics also develop to varying degrees. Some have a little pubic hair and beard or none, a small or no Adam's apple, and a high-pitched or female voice. The patient is tall (same height as his brother), with thin bones and relatively long limbs. The distance from the pubis to the sole of the foot is longer than that of the upper body. The skin is white, and because of the abundant subcutaneous fat, the skin is as good as that of a woman. The buttocks are wider and also like a woman. About half of the patients have "feminine" breast characteristics, and some patients have male breast hyperplasia. For example, after marriage, some patients have no sexual intercourse ability, and some have poor sexual function. Most patients can have an erection and ejaculation, but there are no sperm or very few sperm in the semen, which is called azoospermia, accounting for 97% of most patients. Laboratory tests show a significant increase in follicle-stimulating hormone, high or increased luteinizing hormone, and low testosterone. Patients with this disease also have abnormal personality and behavior. About 1/4 of patients have slow intellectual development, timidity, passive and weak will to live, dependence, emotional instability, mood swings, and individual differences in personality and behavior, which show feminine tendencies to varying degrees. The male secondary sexual characteristics of the patients are poorly developed and have feminine manifestations, such as no beard, less body hair, female-like pubic hair distribution, small glans penis, etc. About 25% of the patients have breast development. The patients are tall and have long limbs. Some patients (about 1/4) have mental retardation, and some patients have mental disorders and tendencies to schizophrenia. |
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