What is testicular dysplasia?

Testicular dysplasia is caused by heredity. An extra x chromosome in the male chromosome can lead to testicular dysplasia. This disease can cause male genital malformation, and can also cause male testicles to become larger or smaller, or lead to male infertility. It is now recommended that premarital examinations can detect this chromosomal abnormality early, and prenatal examinations can also detect fetal abnormalities early and choose to terminate the pregnancy. Preventing electromagnetic radiation during pregnancy that causes fetal gene mutations can also prevent testicular dysplasia.

Congenital testicular dysgenesis may be caused by the fact that sex chromosomes do not separate during the maturation and division of the egg cell, forming an egg containing two Xs. If this egg combines with a Y sperm, it will form a 47,XXY fertilized egg. If the XY does not separate during the first maturation and division of the spermatogenic cell during the maturation process, an XY sperm will be formed. This sperm can also form a 47,XXY fertilized egg when combined with an X egg. It is generally believed that most 47,XXY formations are caused by the fact that sex chromosomes do not separate during the maturation and division of the egg.

So far, more than 30 chromosomal karyotypes of this disease have been found. The karyotype of the vast majority of patients is 47,XXY, accounting for 80% of all cases. About 15% of patients are chimeras with 2 or more cell lines, among which the more common ones are 46,XY/47,XXY (about 7%) and 46,XY/48,XXXY chimeras. The clinical manifestations of the former are milder than the typical 47,XXY. Another 1% of patients have a karyotype of 46,XX/47,XXY, but the phenotype is no different from that of patients with typical congenital testicular dysgenesis. Some patients with typical clinical manifestations have a karyotype of 46,XX.

Testicular dysgenesis is usually not easy to be found and diagnosed during the development period. If chromosome analysis is done early, a clear diagnosis can be made. Patients with this disease are often taller, with smaller testicles on both sides, and may also have typical features of breast hypertrophy. Intrauterine diagnosis during pregnancy is an important way to detect this disease early. Avoiding consanguineous marriage can also prevent the occurrence of this disease.