The Role of Early Diagnosis of AZF Locus Deletions on the Y Chromosome in Assessing Fertility Potential in Boys with Disorders of Sexual Development

Disorders of sexual development in boys and adolescents represent an urgent problem in pediatric endocrinology and medical genetics, as they can lead not only to endocrine and reproductive dysfunction but also to persistent infertility in adulthood.One of the possible factors influencing spermatogenesis and the formation of the male phenotype may be microdeletions of the AZF (azoospermia factor) locus on the Y chromosome.Detection of AZF microdeletions in individuals with disorders of sexual development is a promising aspect of studying the pathogenesis of sexual anomalies, their early diagnosis, and optimization of hormonal correction strategies.Materials and Methods: The study included 488 children under observation for sexual development disorders.AZF gene analysis was performed in 30 boys and adolescents with bilateral cryptorchidism, anorchia or monorchia, a combination of cryptorchidism with microorchidism, and cryptorchidism combined with hypospadias.A general clinical and specialized andrological examination was conducted.Testicular volume was measured using the Prader orchidometer.The stages of puberty were assessed according to Tanner's classification.Serum levels of testosterone, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) were determined.Molecular genetic analysis for the detection of 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.The analysis was performed by real-time polymerase chain reaction (PCR).The result shows deletions in the AZF region were detected in 16 out of 30 examined patients, indicating the possible prevalence of microstructural abnormalities of the Y chromosome in this clinical group and confirming the high diagnostic value of PCR analysis.

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