Chromosomal abnormalities in adolescents girls with primary oligomenorrhea

Abstract

In Ukraine, as in most developed countries of the world, there is an increase in menstrual dysfunction among adolescent girls, which in the future can lead to disorders in the reproductive system at the optimal fertile age. The most common variant of such disorders is oligomenorrhea (primary and secondary). Among the risk factors for the development of pathological changes in the menstrual cycle are biomedical (genetic), environmental, social and hygienic, etc.

Purpose — to study cytogenetic characteristics in the blood lymphocytes of adolescent girls with primary oligomenorrhea in order to improve the efficiency of diagnosis of the disease.

Materials and methods. Cytogenetic analysis was carried out in 25 adolescent girls with primary oligomenorrhea, 12–17 years old. The diagnosis of primary oligomenorrhea was established in the department of pediatric gynecology on the basis of local protocols developed at the institute; cytogenetic examination was carried out in the laboratory of medical genetics of the institute. The control group included 25 healthy girls of the same age with a regular menstrual cycle without somatic pathology, which were identified by the institute's specialists during routine examinations of schools and lyceums in Kharkov. Statistical processing of the data obtained was carried out using Excel programs according to Student's test.

Results. According to the results of cytogenetic analysis, it was found that among the examined adolescent girls with primary oligomenorrhea, the normal female karyotype (46, XX) was detected in 95.45%, the karyotype 47, XXX — in 4.55% of cases. The spontaneous level of chromosomal aberrations in sick girls was 6.52% and exceeded this indicator in healthy girls (1.83%) by 3.4 times. The level of chromatid'type aberrations in the blood lymphocytes of sick girls was 4.84%, which was 4.9 times higher than the level of aberrations in healthy girls (0.97%, p <0.001). The frequency of chromosomal aberrations also differed in girls of the main group (1.68%) when compared with girls in the control group (0.94%, p <0.05). Disorders of the genomic type (polyploid cells and cells with endoreduplication) in girls with primary oligomenorrhea were recorded three times more often than in healthy girls. Among girls with primary oligomenorrhea, a patient with karyotype 47, XXX was identified and a clinical case was described.

Conclusions. It was found that 95.45% of girls with primary oligomenorrhea had a normal female karyotype — 46, XX, and 4.55% had a 47, XXX karyotype. A significant increase of the total level of chromosomal aberrations and of all types of disorders (chromosome'type, chromatid-type, genomic) in the blood lymphocytes of sick girls was recorded, which indicates the destabilization of their genome and requires further monitoring by a geneticist with the appointment of drugs stabilizing DNA.

The study was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the institution specified in the work. Informed consent was obtained from the parents of the children for the research.