Background: The frequency of chromosomal breaks and deletions is higher in cases of primary amenorrhea of gonadal dysgenesis (46, XX) followed by Turners. Karyotype studies may be performed in blood or gonadal tissue or peripheral blood.
Objective: To analyze the radiosensitivity of the chromosomes from patients with primary amenorrhea and compare them to their respective control.
Materials and Methods: The patients studied were classified into 3 groups consisting of 12 patients with 45, X complement (Turners syndrome), patients with 46, XX karyotype (gonadal dysgenesis) and a control group of 10 age matched healthy female individuals with proven fertility and with normal karyotype.
Results: The relative radio sensitivity of the individual chromosomes was expressed as the ratio between the patients and the control. When the ratios for any specific chromosome is 1.5 or greater are considered as sensitive chromosomes for radiation. Among primary amenorrhea, radiosensitivity of the chromosomes is significantly higher in patients of gonadal dysgenesis when compared (0.95 ± 0.08) with the control (0.58 ± 0.0646). Chromosome 7 and X showed a significantly high number of breaks at 7q22 and Xq22 respectively. Out of a total number of 167 breaks on No.7 and 178 breaks on X, 67 breaks were on 7q22 and 59 were on Xq22 respectively.
Conclusion: Thus, it may be concluded that both the chromosomal variants of Turner syndrome, namely, 45,X and 46,XX gonadal dysgenesis patients are significantly more radiosensitive than the normal controls. This study shows that radiation can be used as a tool to diagnose genetic disorders in man.
Key words: Primary amenorrhea, Chromosomes, Radiosensitivity
|
