DELETIONS OF THE AZF LOCUS ON THE Y CHROMOSOME IN CHILDREN AND ADOLESCENTS IN THE DIAGNOSIS OF DISORDERS OF SEXUAL DEVELOPMENT IN BOYS

Аннотация

Aim of the study: analysis of the structure of the AZF locus of the Y chromosome in boys and adolescents with disorders of sexual development. Materials and research methods. The study was conducted on a large sample of 488 children with disorders of sexual development; the AZF gene was analyzed in 26 boys and adolescents; a general clinical, general and special andrological study was carried out. The volume of the testicles was measured using a Prader orchidometer. Stages of puberty were assessed according to the Tanner classification, determination of blood levels of testosterone, follicle-stimulating and luteinizing hormones. Molecular genetic analysis to detect AZF deletions on the Y chromosome was carried out using the following STS markers: AZFa: sY86, sY84, sY615; AZFb: sY127, sY134, sY142; AZFc: sY242, sY254, sY255, sY1197, sY1206, sY1125, sY1291 by real-time polymerase chain reaction. Conclusions. The use of molecular genetic and cytogenetic methods is substantiated as a necessary stage in the examination of complicated forms of cryptorchidism, which contributes to more accurate diagnosis and selection of optimal treatment tactics.