1022-7954/03/3903- $25.00 © 2003
Russian Journal of Genetics, Vol. 39, No. 3, 2003, pp. 342–345. Translated from Genetika, Vol. 39, No. 3, 2003, pp. 423–426.
Original Russian Text Copyright © 2003 by Kalantari, Sepehri, Behjati, Ousati Ashtiani, Akbari.
Many factors may have an inﬂuence on the sper-
matogenic process. One factor that is known to inter-
fere with gametogenesis is chromosomal aberration.
Some aberrations are inherited, while others arise de
novo. The result can be failure or a decrease in sperm
production, or the production of sperm with an unbal-
anced chromosomal constitution. The latter might lead
to unsuccessful conception or to a chromosomally
unstable zygote, which in turn may lead to either fetal
wastage or the birth of a child with a chromosomal
Genetic research into male infertility aims at corre-
lating clinical phenotype and genotype. The elucidation
of such correlations helps us to achieve a more thor-
ough understanding of male reproductive dysfunction
and meaningful genotype–phenotype correlations can
only emerge if sufﬁcient attention is paid to sound doc-
umentation of the clinical phenotype .
There are several studies on chromosomes in infer-
tile males [1, 2, 5, 7, 8, 10]. A major area of cytogenetic
investigation over the past thirty years has been on the
nature and frequency of chromosome anomalies associ-
ated with azoo- or oligozoospermia in infertile men. In
this study we report the occurrence of chromosomal
aberrations and chromosomal variants by high-resolu-
tion banding method (in lymphocytes) in 70 infertile
azoo- and oligozoospermic (<20 million/ml) men. We
compare the clinical and cytogenetie ﬁndings and
report the association between minor chromosomal
anomalies and sperm counts.
MATERIALS AND METHODS
Seventy patients with infertility problems were
referred for cytogenetic investigation. The referral cen-
ter was IW ward of Mirza Kouchak Khan in Tehran.
The criterion for infertility was failure of a couple to
conceive after 1 year of regular unprotected inter-
course. Patient age varied from 20 to 62 years, with a
mean of 35 years. The period of infertility was at least
2 years. A full history was obtained from each patient,
a thorough physical examination was carried out and
semen samples were analyzed 2 to 3 times.
The study included men with azoospermia (31.4%)
and oligozoospermia (1.4%), oligoasthenozoospermia
(24.3%), oligoteratozoospermia (1.4%) and oligoast-
henoteratozoospermia (41.4%). Their sperm count
range is from several thousands to 20
Chromosomal analyses were done from cultures of
peripheral blood lymphocytes by high-resolution band-
ing (thymidine method) according to Rooney
, with minor modiﬁcations. The chromosomal
aberrations were recorded following the ISCN 1995
guidelines . From each patient, 10 well-spread
metaphases were analyzed by G-banding and when
required C-banding (10 cells); NORs and Q-banding
were also carried out. We compared mean sperm count
of 15 infertile men with chromosomal variants with a
control group of 8 infertile men with normal somatic
chromosomes that had no history of treatment or inges-
tion of drug and cigarette smoking. Metabolic disorders
and secondary dysspermia due to mumps, orchitis, var-
icocele, cryptorchidism, epididymitis, or prostate were
not included in this comparison.
Chromosomal Studies in Infertile Men*
, H. Sepehri
, F. Behjati
, Z. Ousati Ashtiani
, and M. T. Akbari
College of Biology, Tehran University, Tehran, 19916 Iran;
e-mail: firstname.lastname@example.org; email@example.com
Department of Human Genetics, Tehran University of Medical Sciences, Tehran, Iran
Received June 7, 2000
—Prometaphase and metaphase chromosome analyses performed on 70 consecutive men with pri-
mary infertility (for a period of at least 2 years) revealed 8 (11.42%) men with some kind of chromosomal
abnormality. The highest frequency of abnormal karyotypes (10%) was found among patients with azoospermia
and the most frequent anomaly was 47, XXY chromosomal constitution, found in 6 (8.57%) patients. All the
chromosomal aberrations found in this study was sex chromosomal type and we did not ﬁnd any autosomal
aberration. All patients with numerical chromosomal anomalies had azoospermia. The incidence of structural
aberration in our study was 1.42%. Fifteen patients had different chromosomal variants (21.38%). We suggest
that men with azoospermia should be considered for cytogenetic investigation and we report that “variants of
the Y chromosome” have no inﬂuence on the sperm count (million/ml) and fertility of men.
* This article was submitted by the authors in English.