原发性闭经患者细胞遗传学的初步研究

对68例原发性闭经患者进行细胞遗传学分析,发现染色体异常31例,占45.G％。在31例染色体异常者中,45,X、45,X/46,XX的各11例,占16.2％,46,X,i(Xq)的7例,占10.2％,45.X/46,XY及46,XY各1例,占1.5％。结合文献讨论了染色体异常导致原发性闭经之原因,以及对特殊病例的发病机制进行初步探讨。Xcen→Xp11及Xq27～28缺少导致典型Turner,Xp21～22及Xq13～26缺失导致体矮及其他体征。

Cytogenetic Studies In Women with Primary Amenorrhea

Ovarian amenorrhea is one of the mostcommon cause of amenorrhea. Aberration in structure and number of X chromosomes may affect he ovarian function, Cytogenetic investigations were carried out on 68 women with primary amenorrhea. 31 cases (45.6%)showed numerical or structural abnormalities of the sex chromosomes: 11 in 31 subjects with 45, X (16.2%), 11 in 31 with 45, X/46, XX (16.2%), 7 in 31 with 46, X,i (Xq) (10.2%),1 with 45, X/46, XY and 1 with 46, XY. The relationship between X chromosome and ovarian function was discussed. Lack of Xp, especially Xcen-xpll (b region) may cause full-blown Turner syndrome. Most of the carriers of an Xp-or Xq- chromosome suffer from ovarian dysgenesis, whereas all Xp-and Xq-chromosomes cause primary or secondary amenorrhea. Lack of the lip of Xp and Xql3-26 has led to short stature. The higher the percentage of normal cells is, the slighter symptoms of Turner syndrome will be. Their intelligence may slightly subnormal or normal. They are usually of short stature wilt gonadal dysgenesis and primary amenorrhea.