In the diagnosis and classification of male infertility, people are relatively familiar with common male infertility factors, but little is known about the genetic diseases that cause male infertility. Now, the following five genetic diseases that cause male infertility are introduced.
Hereditary diseases refer to the diseases caused by parents' germ cell, that is, diseases carried by diseased genes in sperm and eggs and then passed on to their children,
Congenital testicular hypoplasia is a common disease, accounting for about 1/500 of male newborns. It is usually asymptomatic in childhood and symptomatic in adolescence. Typical clinical manifestations include excessive limb growth, poor muscle development, sparse hair on the breasts, face, and body of women, small and hard testicles, fibrosis and hyaline degeneration visible on testicular microscopy, severe obstruction or cessation of the spermatogenic process, and high levels of FSH and LH in the blood, Gonadal dysfunction is often accompanied by intellectual disability and sexual dysfunction. This is caused by abnormal sex chromosome and cannot be cured.
The karyotype of most Turner's syndrome patients is still 46, XY; Only a few are chromosomal chimeras. The clinical manifestations are short stature, webbed neck, low ear position, shield shaped chest, cryptorchidism, and dysfunction of spermatogenesis. The serum levels of androgens are low, and most of them lose fertility.
The clinical manifestations of this disease are similar to Kleinfeld's syndrome, with a male appearance and a male psychological state, but the testicles are small, without pubic hair or with sparse pubic hair. The karyotype is 46, XY.
4Klinefelter's syndrome: It has many names, such as seminiferous tubule dysplasia, sclerotic seminiferous tubule degeneration, congenital testicular dysplasia, primary microtestis, and so on. This condition appears mild before puberty and is often overlooked. The typical symptom of puberty is that the testicles are small and hard, with a length and diameter of no more than 2 centimeters, which is about half the average length of a normal adult male. Having a slender figure, delicate skin, long body hair, and sparse beard, approximately half of them exhibit feminized breasts, low sexual function, and infertility during puberty. Some patients have mild intellectual disability. The testicular living tissue examination showed that the seminiferous tubules were hyaline degeneration, the basement membrane was significantly thickened, spermatid were atrophied and even disappeared, only supporting cells were present, and the lumen was mostly occluded. There is a large proliferation of collagen fibers in the interstitial tissue of the testes, with numerous clusters of interstitial cells and a decrease in intracellular lipid droplets. Normal or low plasma testosterone levels, increased estrogen production, and an imbalance in the ratio between the two. In most cases, the levels of gonadotropins in blood and urine are significantly increased, especially the increase in FSH content. Semen examination shows low or no sperm count.
5XX male syndrome (XXmales): The karyotype of this syndrome is 46, XX, but the internal and external genitalia are male, presenting a slightly worse male secondary syndrome until puberty. Its clinical manifestations, pathological findings, and endocrine tests are similar to Klinefelter syndrome.
Ciliary stagnancy syndrome This disease has a family history of close marriage, and its clinical manifestations are visceral inversion (such as dextrocardia), bronchiectasis, chronic sinusitis, and abnormal ciliary movement of sperm tail. The reason is that the cilia in these areas have movement disorders.
The incidence rate of Sertoli cell only syndrome is about 3%. There is no congenital malformation in appearance, but there is no spermatid in the testis, and there is no sperm. The serum FSH is increased, but the testosterone level is normal.