Марказий Осиё эндокринологик журнали Ҷилди 3 № 1 (2023)
“HORMONAL-GENETIC ASPECTS OF SEXUAL DEVELOPMENT DISORDERS AND A SPECTRUM OF MICRODELLATIONS Y CHROMOSOMES, INCLUDING THE AZOOSPERMIA (AZF) FACTOR IN CHILDREN AND ADOLESCENTS WITH SEXUAL DEVELOPMENT DISORDERS”
Султанова Ш.Т., Алимов А.В., Фроянченко Г.А., Урманова Ю.М., Алиева Д.А.
Аннотатсия
Relevance. An intensive study of chromosomal anomalies including Y chromosome anomalies, microdeletions, and AZF deletions of the Y locus in the etiology of male infertility and hypogonadism is underway. Goal. To study hormonal and genetic aspects of sexual development disorders and peculiarities of AZF microdeletions in children and teenagers. Materials and Methods. Genotyping of the AZF locus of the Y chromosome was performed in 5 children and adolescents with impaired sexual development. The age of the subjects varied from 11 months to 18 years with an average of 34.2 ± 2.35 years. Results. Among the developmental disorders the most frequently encountered was PD (456.8%), as well as ZFPR (27.2%). At the same time the combination of growth and pubertal pathology - ZFPR - was found in 27.2% of 44 patients. In addition, such developmental disorders as mental retardation (31.8%), delayed speech development (9%), delayed physical, sexual and mental development (20.4%) were identified. The examined patients had significantly lower basal values of LH, FSH (p < 0,05) compared to the control group, as well as significantly low levels of free plasma testosterone (svT) (p < 0,05) against the background of normoprolactinemia. Conclusion. Genotyping of the AZF locus is recommended for all patients with severe sexual development disorders to rule out other genetic and non-genetic causes of the disease.
подростки, дети, нарушения пубертата, AZF локус Y хромосомыadolescents, children, pubertal disorders, AZF locus of the Y chromosome
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