Genetic Analysis of Sperm and Implications of Severe Male Infertility—A Review

Egozcue, J.; Blanco, Joan; Antón, Ester; Egozcue, Susana; Sarrate, Zaida; Vidal, Francesca

doi:10.1016/s0143-4004(03)00186-3

Cited by 54 publications

(38 citation statements)

References 60 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Higher aneuploidy rates in our study for chromosomes 21, X, and Y are in agreement with others, as these chromosomes have a higher tendency to nondisjunction [Carrell et al 2003;Rodrigo et al 2004]. Reduction of recombination and the presence of a single end terminal chiasma between the X and Y at meiosis might be responsible for this observation [Hassold et al 1991;Egozcue et al 2003;Martin 2006]. Aneuploidy rates might be even higher in earlier germ-cells such as primary or secondary spermatocytes, reported to be 39% in patients with hypospermatogenesis, 43.5% in men with maturation arrest, and 29.1% in patients with OA [Huang et al 1999].…”

Section: Discussionsupporting

confidence: 92%

“…There is a renewed interest in the use of tests beyond semen analysis due in part to the increase in the number of reports indicating an elevated risk of congenital anomalies in children born after ART [Bonduelle et al 2002;The ESHRE Group 2007;Verpoest and Tournaye 2006]. Higher levels of sperm aneuploidy have been reported in infertile men compared to donors with proven fertility [Egozcue et al 2003]. Sperm chromosome aneuploidies are increased in patients with severe oligoasthenoteratozoospermia (OAT), and have been reported to contribute to chromosomal abnormalities in embryos, repeated IVF/ICSI failures, recurrent pregnancy losses, as well as unexplained infertility [Gianaroli et al 2005;Martin 2006].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A comparison of ejaculated and testicular spermatozoa aneuploidy rates in patients with high sperm DNA damage

Moskovtsev¹,

Alladin²,

Lo³

et al. 2012

Systems Biology in Reproductive Medicine

View full text Add to dashboard Cite

Testicular spermatozoa are utilized to achieve pregnancy in couples with severe male factor infertility. Several studies suggest that aneuploidy rates in spermatozoa are elevated at the testicular level in infertile patients compared to ejaculates of normal controls. However, essential data regarding aneuploidy rates between ejaculated and testicular spermatozoa in the same individuals is lacking. The purpose of our study was to compare aneuploidy rates at the testicular and post-testicular level from the same patients with persistently high sperm DNA damage. Ejaculates and testicular biopsies were obtained from eight patients with persistently high DNA damage (>30%). Both ejaculated and testicular samples were analyzed for sperm DNA damage and sperm aneuploidy for chromosomes 13, 18, 21, X, and Y. In addition, semen samples from ten normozoospermic men presenting for fertility evaluation served as a control group. A strong correlation between the alteration of spermatogenesis and chromatin deterioration was observed in our study. In the same individuals, testicular samples showed a significantly lower DNA damage compared to ejaculated spermatozoa (14.9% ± 5.0 vs. 40.6% ± 14.8, P < 0.05), but significantly higher aneuploidy rates for the five analyzed chromosomes (12.41% ± 3.7 vs. 5.77% ± 1.2, P < 0.05). While testicular spermatozoa appear favourable for ICSI in terms of lower DNA damage, this potential advantage could be offset by the higher aneuploidy rates in testicular spermatozoa.

show abstract

Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

A comparison of ejaculated and testicular spermatozoa aneuploidy rates in patients with high sperm DNA damage

Moskovtsev¹,

Alladin²,

Lo³

et al. 2012

Systems Biology in Reproductive Medicine

View full text Add to dashboard Cite

show abstract

“…Most infertile men have normal karyotypes, but their semenograms are abnormal. In many cases these patients show an increased incidence of aneuploid sperm and diploid sperm (Egozcue et al, 2003). Human Y chromosome contains genes necessary for gonadal differentiation into a testis as well as at least one gene required for full spermatogenesis (Lipshultz and Howards, 1997).…”

Section: Introductionmentioning

confidence: 99%

Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study

Ceylan¹,

Ceylan²,

Elyas³

2009

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Infertility is defined as the inability to conceive a child after one year of regular unprotected intercourse; it is a major health problem affecting about 10-15% of all couples. Infertility is due to a male factor in approximately 50% of cases. The human Y chromosome contains genes necessary for gonadal differentiation into a testis and genes for complete spermatogenesis. We examined the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions in 90 patients with severe male factor infertility and 75 fertile control men. Thirty of the infertile patients had nonobstructive azoospermia, 30 had oligozoospermia and 30 had normozoospermia. Five of 30 were azoospermic, four of 30 were oligozoospermic and two of 30 were normozoospermic with Y chromosome microdeletions. The AZFc locus was the most frequently deleted region (64%). Ten cases with azoospermia, four cases with oligozoospermia and four cases with normozoospermia had chromosomal abnormalities. The 75 men with proven fertility were genetically normal. We conclude that various chromosomal abnormalities and deletions of the Y chromosome can cause infertility; therefore, genetic screening is indicated for infertile patients.

show abstract

“…The men may have azoospermia often due to an arrest at prophase I following an association between XY bivalents and quadrivalent formations [29]. Sperm karyotyping, using the hamster system, in 37 reciprocal translocation heterozygotes has shown that 19-77% of spermatozoa are unbalanced and these result from abnormal segregation and/or interchromosomal effect leading to aneuploidy of chromosomes including those not involved in the translocation [7,30]. Rearrangements of human chromosome 1 were found to be linked to male factor infertility and especially to azoospermia [31].…”

Section: Discussionmentioning

confidence: 99%

Chromosomal Abnormalities in Infertile Men from Southern India

Suganya

Kujur

Selvaraj³

et al. 2015

JCDR

View full text Add to dashboard Cite

Background and Objective: Male infertility has been associated with aneuploidies and structural chromosomal abnormalities, Yq microdeletions and specific gene mutations and/or polymorphisms. Besides genetic factors, any block in sperm delivery, endocrine disorders, testicular tumours, infectious diseases, medications, lifestyle factors and environmental toxins can also play a causative role. This study aimed to determine the constitutional karyotype in infertile males having normal female partners in a south Indian population. Materials and Methods:A total of 180 men with a complaint of primary infertility ranging from 1 to 25 years were screened for chromosomal abnormalities through conventional analysis of GTG-banded metaphases from cultured lymphocytes.Results: Four individuals were diagnosed to have Klinefelter syndrome. Two cases exhibited reciprocal translocations and one showed a maternally inherited insertion. Polymorphisms were seen in sixty-seven patients (37.2%).

show abstract

Genetic Analysis of Sperm and Implications of Severe Male Infertility—A Review

Cited by 54 publications

References 60 publications

A comparison of ejaculated and testicular spermatozoa aneuploidy rates in patients with high sperm DNA damage

A comparison of ejaculated and testicular spermatozoa aneuploidy rates in patients with high sperm DNA damage

Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study

Chromosomal Abnormalities in Infertile Men from Southern India

Contact Info

Product

Resources

About