What causes congenital testicular dysplasia? What are the symptoms of testicular dysplasia

Congenital testicular hypoplasia syndrome, also known as primary small testicular disease, is one of the common causes of male infertility. There is an extra X chromosome in the patient's somatic cell, which affects the normal development of the testis. The incidence rate is about 1 ‰ among boys. The symptoms of patients with this disease can be manifested as breast overgrowth, body emaciation, mental retardation, abnormal development of secondary sexual characteristics, etc., and serious cases can be complicated with malignant tumors in adults. So what are the causes of congenital testicular hypoplasia?

Etiology of congenital testicular hypoplasia

The cause of congenital testicular hypoplasia is that there is an extra X chromosome in the patient's body cell, which affects the normal development of the testis. The formation of congenital testicular hypoplasia may be that the sex chromosome does not separate during the maturation and division of the egg cell, forming an egg containing 2 x, which combines with y sperm to form 47, XXY fertilized eggs. If XY is not separated during the first mature division of spermatogenic cells during the process of maturation, XY sperm will be formed. This sperm can combine with X egg to form 47, XXY fertilized eggs. It is generally believed that the majority of 47, XXY formation is caused by the non-separation of the neutral chromosome during the maturation and division of the egg.

Manifestations of congenital testicular hypoplasia

The patients with congenital testicular hypoplasia have no abnormalities in childhood, and often appear abnormalities in adolescence or adulthood. The patient is relatively tall, with slender lower limbs, thin and white skin, sparse pubic hair and beard, and often no axillary hair. It is eunuchal. About half of the patients with enlarged breasts on both sides of the external genitalia are common in normal men, but the penis is shorter than that of normal men, the testicles on both sides are significantly smaller, mostly less than 3cm, hard in texture, poor in function, no sperm in semen, infertility or low in function. Normal or slightly lower intelligence development.

Treatment of congenital testicular hypoplasia

Long-term supplement of male hormone can improve the secondary sexual characteristics, but the effect is not ideal. Generally, testosterone propionate (testosterone propionate) or methyltestosterone (methyltestosterone) tablets are taken sublingually. It is more convenient to give long-acting testosterone, such as testosterone heptaneate or testosterone cyclopentaonate. Chorionic gonadotropin may also be given at the same time. The medicine can only help masculinization, but it cannot change the female type of breast. Therefore, for those with breast hypertrophy, the breast and adipose tissue in the breast can be removed.