Genetic anomalies in dysmenorrhea and sterility: range and frequency, age-related dependence, mosaicism dynamics

Cytogenetic examination of 304 women with different breaches of menses accompanying sterility revealed 8,6% patients having chromosomal anomalies: 14 women had karyotype 45,X; 5 patients had the XY complex of sexual chromosomes, 3 patients having the mosaic set of chromosomes 45,X/46,XX; and a group of patients were with karyotypes 45,X/46,XX/47,XXX; 45,X/46,XXq-/46,XX; 47,XXX; 46,Xq- represented each by one case. The highest frequency (37%) and the most various spectrum of chromosomal anomalies were revealed among women with primary amenorrhea. The intensity of mutagenesis on the genome level with regard to X-chromosome was in average 100 times higher than on the chromosomal (structural) level. Genealogical analysis has revealed the X-linked recessive inheritance of the "XY-women" syndrome in one family and also permitted to suppose 2 autosomal-recessive forms of primary amenorrhea with karyotype 46,XX in 5 patients. Other cases were sporadic. In spite of the higher risk of indivergence of sex chromosomes in gametogenesis for parents of old age groups, the probability of birth of children with chromosomal anomalies considered in not increased with the age of parents. A tendency to the increase in a relative number of cells with the normal karyotype was detected at the pubertal age in mosaic organisms due to selective processes.