Clinicocytogenetic examinations of a patient with caryotype 46, XX, azoospermia, and sterility

Abstract

Intensive mapping of the Y chromosome in recent years has made it possible to determine the localization of a number of loci responsible for male differentiation. On the Y chromosome, the localization of the test-determining factor in the proximal region of the pseudo-autosomal region of the short arm was determined; distal to this gene, it is believed that the gene responsible for the function of the fertility factor SP-2 is located. Loci are located between euchromatin and heterochromatin of the long arm (AZF, SP-3, below - SP-4), which are responsible for controlling spermatogenesis.
Reports on the results of a multilateral examination of clinical cases with impaired spermatogenesis, fertility and anomalies of the Y chromosome are of some value not only for diagnosis and prognosis, but also for the accumulation of more complete information about the genetic regulation of reproductive processes and the development of approaches to correct their disorders. We present our observation.