Мета -виявити негативні чинники спадковості та середовища в сім'ях підлітків, хворих на остеоартроз (ОА). Матеріали та методи. Аналіз родоводів проведено в 94 сім'ях підлітків обох статей, хворих на ОА, віком від 12 до 17 років, які перебували на обстеженні в ДУ «ІОЗДП НАМН». Групу порівняння становили родоводи 75 здорових однолітків без тяжкої мультифакторної патології, обстежених в інституті. Результати. На основі генеалогічного аналізу в сім'ях підлітків із ОА визначено негативні перинатальні та постнатальні чинники. Виявлено сімейну агрегацію мультифакторних хвороб у родичів трьох ступенів спорідненості: патологію опорно рухового апарату, у тому числі ОА; серцево судинної системи (гіпертонічної хвороби, ішемічної хвороби серця, інсультів та ін.); ендокринної системи (цукрового діабету, хвороб щитоподібної залози, ожиріння); шлунково кишкового тракту; онкопатології тощо. За наявності ОА в родичів хворих підлітків ризик розвитку захворювання зростав у 21 раз. Висновки. Аналіз родоводів у сім'ях підлітків, хворих на ОА, показав, що вагоме значення мають такі показники, як вік матері до 20 років, нефропатія та стимуляція пологової діяльності в матері хворого підлітка, штучне вигодовування дитини, заняття підлітка у спортивних секціях, сімейне накопичення захворювань суглобів. Дослідження виконано відповідно до принципів Гельсінської Декларації. Протокол дослідження ухвалено Локальним етичним комітетом зазначеної в роботі установи. На проведення досліджень отримано інформовану згоду батьків, дітей. Автори заявляють про відсутність конфлікту інтересів. Ключові слова: остеоартроз, підлітки. родоводи, середовищні чинники, спадковість.

Aim. To determine the level of chromosomal disorders in peripheral blood lymphocytes of children and adolescents with juvenile idiopathic arthritis with concomitant multifactorial pathology in vitrо. Methods. Cytogenetic analysis was carried out in patients with juvenile idiopathic arthritis with concomitant multifactorial pathology in vitro, using a common methodology. Statistical analysis of the results of research was carried out using Excel software package and SPSS Statistics 17.0. Results. Chromosomal aberrations in peripheral blood lymphocytes were revealed in 100 % of patients. The general level of chromosomal abnormalities in the patients with concomitant pathology was 5.57 per 100 cells, and in the comparison group – 4.10 per 100 cells. In both groups aberrations of chromatid type prevailed. Conclusions. In patients with juvenile idiopathic arthritis, accompanied by different multifactorial disorders, spontaneous level of chromosomal abnormalities in blood lymphocytes in vitro was 1.4 times higher compared to the level of chromosomal aberrations in patients without concomitant pathology. The frequency of chromatid type aberrations was higher than the chromosome type aberrations rate in 1.6 times in the main group and in 2.2 times in the comparison group. Keywords: juvenile idiopathic arthritis, children, adolescents, chromosomes, aberrations, concomitant multifactorial pathology.

Aim. To determine genealogical and cytogenetic features in girls aged 12-17 years with secondary amenorrhea. Methods. The analysis of pedigrees was conducted in 25 families of girls with secondary amenorrhea (main group) and in 25 families of healthy girls in the laboratory of medical genetics of SI "ICAHC NAMS". Cytogenetic analysis was carried out in the blood lymphocytes of the girls of the main and control groups in vitro. The control group consisted of 25 healthy peer girls with a regular menstrual cycle without somatic pathology. The data obtained were analyzed statistically using the Student's t-test in Excel programs. Results. The hereditary burden on non-inflammatory (hormone-dependent) gynecological diseases was found in 60.0% of families, in 86.6% of cases – along the maternal line, in 6.7% – along the paternal line, in 6.7% – on both lines at the same time; 40.0% of girls had no hereditary burden. The total incidence of gynecological (non-inflammatory) diseases among relatives of three degrees of kinship was 13.6%, which was almost three times higher than the frequency in relatives of healthy girls (5.1%, p < 0.001). Cytogenetic analysis conducted in girls of the main group showed an increase in both the overall level of chromosomal disorders (6.2%), and their individual types (3.2%. 3.0%, 1.56%) compared to the frequency in healthy girls. Conclusions. Family accumulation of gynecological (non-inflammatory) diseases in the pedigree of girls with secondary amenorrhea has been established. Cytogenetic features in the blood lymphocytes of sick girls are revealed compared to healthy peers.  Keywords: girls, pedigrees, cytogenetic indices, secondary amenorrhea.

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. The authors declare no conflicts of interest. Key words: primary oligomenorrhea, girls, chromosomes, aberrations.