Abstract
BackgroundUndescended (cryptorchid) testes in patients with defective mini-puberty and low testosterone levels contain gonocytes that fail to differentiate normally, which impairs the development of Ad spermatogonia and ultimately leads to adult infertility. Treatment with the gonadotropin-releasing hormone agonist GnRHa increases luteinizing hormone and testosterone and rescues fertility in the majority of pathological cryptorchid testes. Several Y-chromosomal genes in the male-specific Y region (MSY) are essential for spermatogenesis, testis development and function, and are associated with azoospermia, infertility and cryptorchidism. In this study, we analyzed the expression of MSY genes in testes with Ad spermatogonia (low infertility risk patients) as compared to testes lacking Ad spermatogonia (high infertility risk) before and after curative GnRHa treatment, and in correlation to their location on the Y-chromosome.ResultsTwenty genes that are up- or down-regulated in the Ad- group are in the X-degenerate or the ampliconic region, respectively. GnRHa treatment increases mRNA levels of 14 genes in the ampliconic region and decreases mRNA levels of 10 genes in the X-degenerate region.ConclusionOur findings implicate Y-chromosomal genes, including USP9Y, UTY, TXLNGY, RBMY1B, RBMY1E, RBMY1J and TSPY4, some of which are known to be important for spermatogenesis, in the curative hormonal treatment of cryptorchidism-induced infertility.
Highlights
Cryptorchidism is the most frequent congenital pediatric urological disorder in boys and represents the most common cause of non-obstructive azoospermia in man [1,2,3]
In cryptorchid testes with defective mini-puberty, insufficient testosterone levels fail to direct gonocytes into the differentiation process, which impairs the development of Ad spermatogonia and causes adult infertility [9,10,11]
The Y chromosome harbors a number of genes essential for spermatogenesis, testis development and function, which are located in the male-specific Y region (MSY), known as non-recombining region of the Y chromosome ([16] and reviewed in [17])
Summary
Cryptorchidism is the most frequent congenital pediatric urological disorder in boys and represents the most common cause of non-obstructive azoospermia in man [1,2,3]. In cryptorchid testes with defective mini-puberty, insufficient testosterone levels fail to direct gonocytes into the differentiation process, which impairs the development of Ad spermatogonia and causes adult infertility [9,10,11]. Male specific RBMY proteins are predominantly expressed in post-meiotic germ cells and bind RNA [27,28,29] Both RBMY and the lysine-specific histone (H3K4) demethylase KDM5D are considered candidates for causing AZFb-related testicular pathology; reviewed in [20]. Undescended (cryptorchid) testes in patients with defective mini-puberty and low testosterone levels contain gonocytes that fail to differentiate normally, which impairs the development of Ad spermatogonia and leads to adult infertility. Several Y-chromosomal genes in the male-specific Y region (MSY) are essential for spermatogenesis, testis development and function, and are associated with azoospermia, infertility and cryptorchidism. We analyzed the expression of MSY genes in testes with Ad spermatogonia (low infertility risk patients) as compared to testes lacking Ad spermatogonia (high infertility risk) before and after curative GnRHa treatment, and in correlation to their location on the Y-chromosome
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