Laboratory features

Semen analysis. Ejaculate is examined to determine the number, motility, and morphology of sperm. Semen analysis should follow the WHO guidelines, Laboratory Manual for the Examination and Processing of Human Semen . The following categories of sperm count are identified.

Table 1.

Classification of Sperm Count

Classification of Sperm Count1 | Sperm Count in Millions/mL2

Azoospermia | 0

Severe oligozoospermia | 1

Moderate oligozoospermia | 1-5

Mild oligozoospermia | 5-20

Normal | 20

Source: GeneReviews — "Y Chromosome Infertility"

Treatment of Manifestations

A couple in which the male has Y chromosome infertility can be offered the option of in vitro fertilization using ICSI (intracytoplasmic sperm injection) . In this procedure, spermatozoa retrieved from ejaculate (in males with oligozoospermia) or extracted from testicular biopsies (in males with azoospermia) are injected by ICSI into a harvested egg by IVF (in vitro fertilization) . Retrieval of sperm has been successful for most males with deletions of AZFc, but rarely for males with deletions of AZFb or AZFa. The reason for this is that an autosomal copy of DAZ (DAZL) may serve as a "backup gene," which would help preserve a tiny amount of residual spermatogenesis in males with AZFc deletions that remove the DAZ genes. There are no such autosomal "backup" copies for genes in AZFa and AZFb. The definition of Sertoli cell-only (SCO) syndrome has been the subject of confusion in the literature. There are two main causes of non-obstructive azoospermia (NOA): maturation arrest and Sertoli cell-only.

Source: GeneReviews — "Y Chromosome Infertility"