Reduced male fertility can be caused by genetic factors affecting gamete fo
rmation or function; in particular, chromosome abnormalities are a possible
cause of male subfertility as shown by their higher frequency in infertile
men than in the general male population. Meiotic studies in a number of th
ese males have shown spermatogenesis breakdown, often related to alteration
s in the process of chromosome synapsis. Indeed, any condition that can int
erfere with X-Y bivalent formation and X-chromosome inactivation is critica
l to the meiotic process; furthermore, asynapsed regions may themselves rep
resent a signal for the meiotic checkpoint that eliminates spermatocytes wi
th synaptic errors. We performed cytogenetic, hormonal and seminal studies
in 333 infertile patients selected because azoospermic, severely oligozoosp
ermic or normozoospermic with failure to fertilize the partner's oocytes in
an in vitro fertilization (IVF) program. Our findings: 1) confirm the high
incidence of chromosomal anomalies among infertile males; 2) highlight the
relevance in male infertility of quantitative/positional modifications of
the constitutive heterochromatin; and 3) underline the relevance of coopera
tion between andrologists and cytogenetists prior to every kind of assisted
reproduction, above all prior to intracytoplasmic sperm injection, in whic
h selective hurdles eliminating abnormal germ cells are bypassed. (C) 2000,
Editrice Kurtis.