Post Date December, 02 2023
Common genetic diseases that can cause male infertility include:
(A) Klinefelter syndrome (Klinefelter syndrome, congenital testicular hypoplasia)
This disease is relatively common, accounting for about 1/500 of male newborns. It was first described by Dr. Klinefelter in 1942, hence its name. This disease is usually asymptomatic in childhood, but symptoms appear in adolescence. The typical clinical manifestations are: limb growth is too long, muscle development is poor, common in female breasts, facial and body hair is sparse, testicles are small and hard, fibrosis and hyaline degeneration can be seen on testicular microscopy, severe obstruction or cessation of spermatogenesis, high levels of FSH and LH in the blood, low gonadal function, and often accompanied by intellectual retardation and sexual dysfunction. This is caused by abnormal sex chromosome and cannot be cured.
(B) Turner's syndrome
The chromosome karyotype of most 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.
(C) Sex reversal syndrome
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.
(D) Ciliary stagnation syndrome
This disease mostly has a family history of close relatives' 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.
(E) Sertoli cell only syndrome has a incidence rate of 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.
(Intern Editor: Cai Junyi)
