Cytogenetic abnormalities in a sample of females with premature ovarian failure

Abstract Background Premature ovarian failure (POF) is a complex heterogeneous disorder characterized by the triad of amenorrhea, hypergonadotropinism, and hypoestrogenism in women before the expected age of menopause. In most POF patients, the etiology is idiopathic. X chromosome abnormalities are known to be responsible for many POF cases but the effect of sex chromosome low level mosaicism on ovarian function still remains unclear. The aim of this study was to investigate the prevalence and type of cytogenetic abnormalities as well as low-level sex chromosome mosaicism in Egyptian females with POF. Results The present study recruited thirty women with POF and thirty women with normal reproductive history as a control group. Conventional cytogenetic analysis was carried out on POF patients in order to detect cytogenetic abnormalities. FISH on interphase and metaphase nuclei from patients with normal karyotype as well as from thirty control women with normal reproductive history was performed using X, Y, and 18 centromeric probes to evaluate low-level sex chromosome mosaicism. Conventional cytogenetic analysis of peripheral blood lymphocytes demonstrated chromosomal aberrations in 7 cases. FISH revealed that the rate of X chromosome mosaicism was significantly higher in POF patients than in the control group. Conclusion We concluded that X chromosome abnormalities including low level mosaicism may be underlying the pathology of POF as increased mosaicism may lead to accelerated oocyte aging and premature follicular atresia.