(1) Klinefelter syndrome (Klinefelter sign, congenital testicular hypoplasia) This disease is relatively common, accounting for about 1/500 male newborns. It was developed by Dr. Klinefelter in 1942 The year is described first, hence the name. The disease is usually asymptomatic in childhood, and symptoms appear in adolescence. The typical clinical manifestations are: excessive growth of limbs, poor muscle development, common gynecomastia , sparse facial and body hair, small and hard testicles, which can be seen on testicular microscopy Fibrosis and hyaline degeneration, severe obstruction or stop of spermatogenesis, high blood FSH and LH, hypogonadism, often accompanied by mental retardation and sexual dysfunction . It is caused by sex chromosome abnormalities and cannot be cured.
(2) Most of the karyotypes of patients with Turner syndrome are still 46, XY; only a few are chromosomal mosaicism. The clinical manifestations are short stature, webbed neck, low ear position, shield-shaped chest, cryptorchidism and spermatogenic dysfunction, low serum androgen levels, and most of them lose their fertility.
(3) Sex reversal syndrome The clinical manifestations of this disease are similar to those of Klinefelter’s syndrome. The appearance is male, with a male psychological state, but the testicles are small, and there is no or little pubic hair. The karyotype was 46, XY.
(4) Ciliary stagnation syndrome This disease often has a family history of consanguineous marriage, and its clinical manifestations are visceral inversion (such as: dextrocardia), bronchiectasis, chronic sinusitis, and abnormal movement of cilia in the tail of sperm . The reason is that the cilia in these parts have dyskinesia.
(5) The incidence of Sertoli cell-only syndrome is about 3%. There was no congenital abnormality in appearance, but there was a lack of germ cells in the testis, no sperm, elevated serum FSH, but normal testosterone levels.