What Is XXY Syndrome?

XXY syndrome

Also known as Klinefelter Syndrome (Klinefeltersyndrome), that is, Klinefelter Syndrome, congenital testicular hypoplasia, or primary microtestis. The patient's sex chromosome is XXY, which is one more X chromosome than a normal male.

Creutzfeldt-Jakob syndrome is a disease caused by abnormal sex chromosomes. Also known as congenital seminiferous tubular hypoplasia, it is the most common male hypogonadism disease in clinical practice, and it is a high gonadotropin hypogonadism. The typical karyotype is 47, XXY, the atypical karyotype is 48, XXXY; 49, XXXXY; and the chimeric type is 46, XY / 47, XXY;

The incidence of this disease is quite high, reaching 1.2 in male newborns.

According to white people, the prevalence of men who are 180 cm tall is 1/260, about 1/100 in psychiatric patients or criminal institutions, and about 1/20 in those who see a doctor for infertility.

Human eggs or sperm undergo meiosis during the process of occurrence. If the sex chromosome of the sperm and oocyte is not separated during meiosis, the zygote formed after fertilization will have an extra X chromosome, forming XXY. This extra X chromosome can come from the egg or sperm. In addition, fertilized eggs do not separate X during cleavage, and additional X chromosomes may also appear.

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.

Due to azoospermia, 97% of patients are infertile.

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.

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.

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.