Abstract
BackgroundPremature ovarian failure (POF) is the cessation of ovarian function accompanied by oestrogen deficiency and follicle-stimulating hormone (FSH) levels ≥40 IU/ml before the age of 40. Chromosomal abnormalities, mainly involving the X chromosome, are the most common genetic cause, with a prevalence of up to 15%. The presence of X chromosome mosaicism is associated with the onset of the disease. ObjectiveTo determine the presence of mosaicism in different tissue samples from patients with POF compared to a control group. Materials and methodsSamples of oral mucosa, peripheral blood and urine were collected from 6 patients diagnosed with POF who presented a normal karyotype, as well as from 6 age-matched controls, between May and November 2014. We analysed 3,000 nuclei from each patient and their respective control (1,000 nuclei from each tissue), thus obtaining a total of 6,000 nuclei per pair of case and control subjects. These nuclei were used to determine the percentage of X chromosome mosaicism using the fluorescent in-situ hybridisation (FISH) technique. ResultsIn the study group, FISH analysis of interphase nuclei from the 3 tissues analysed showed a cell line with monosomy X in 0.94% (0.3-2%) and a cell line with trisomy X in 0.52% (0-3.4%) of the total 18,000 cells analysed. Cells with 45,X were more frequent in the urothelium. In the control group, FISH analysis showed a cell line corresponding to monosomy X in 0.32% (0-0.7%) and to trisomy X in 0.4% (0%-3.4%) of cases. DiscussionA statistically significant difference (p <0.05) between the percentages of mosaicism for X chromosome monosomy was found between patients and their matched controls. Likewise, there was a statistically significant difference between the percentage of mosaicism found in urothelial cells and in cells from peripheral blood and oral mucosa. ConclusionThe presence of low-grade mosaicism can be a cause of POF. This study indicates that more than 1 tissue type is necessary to identify low-grade mosaicism. The study of urothelial cells should be included in the diagnostic approach of patients with POF.
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