Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion

Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion

Infertility affects around 1 in 10 men and in most cases the cause is unknown. The Y chromosome plays an important role in spermatogenesis and specific deletions of this chromosome, the AZF deletions, are associated with spermatogenic failure. Recently partial AZF deletions have been described but their association with spermatogenic failure is unclear. Here we screened a total of 339 men with ...

To investigate the Y chromosome AZFc partial deletion types and its association in spermatogenic impairment and male infertility

Association of partial AZFc region deletions with spermatogenic impairment and male infertility.

BACKGROUND Complete deletions of the AZFc region in distal Yq are the most frequent molecular genetic cause of severe male infertility. They are caused by intrachromosomal homologous recombination between amplicons--large, nearly identical repeats--and are found in 5-10% of cases of azoospermia and severe oligozoospermia. Homologous recombination may also generate different partial deletions of...

Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion.

PWS or may have had five of the following characteristics? Floppiness at birth. Initial failure to thrive or diYculty in sucking. The development of severe overeating and rapid weight gain in early childhood. Obesity or the need for weight control. Problems with sexual development (for example, undescended testes, delayed periods). Some learning disability (mental handicap). Small hands and fee...

Y chromosome haplogroups may confer susceptibility to partial AZFc deletions and deletion effect on spermatogenesis impairment.

BACKGROUND Partial AZFc deletions related to testis-specific gene families are common mutations of the Y chromosome, but their contribution to spermatogenic impairment is still unresolved, and the risk factors for the formation of the deletions remain unknown. With this in mind, we investigated the possible association between Y chromosome haplogroups and predisposition to partial AZFc deletion...