Chromosomal Abnormalities and Polymorphisms in Infertile Men

Videaú, S. Penna; Araújo, Hallysson Douglas Andrade de; Ballesta, Francisca; Ballescá, José-Luis; Vanrell, Juan A.

doi:10.1080/01485010151096504

Cited by 30 publications

(7 citation statements)

References 10 publications

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“…The incidence of these polymorphisms in infertile men is higher than in the general population. 39 40 41 42 Studies in synaptonemal complexes of these individuals show that the polymorphic heterochromatic region present more synaptic anomalies than the non-polymorphic equivalent regions. 43 …”

Section: Discussionmentioning

confidence: 99%

Meiotic abnormalities in metaphase I human spermatocytes from infertile males: frequencies, chromosomes involved, and the relationships with polymorphic karyotype and seminal parameters

2014

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The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this purpose, a total of 31 testicular tissue samples from individuals consulting for fertility problems were analyzed. Metaphase I cells were evaluated using a sequential methodology combining Leishman stained procedures and multiplex fluorescence in situ hybridization protocols. The number of chromosomal units and chiasmata count per bivalent were established and a hierarchical cluster analysis of the individuals was performed. The relationship of the seminogram and the karyotype over recombination were evaluated using Poisson regression models. Results obtained in this study show a significant percentage of infertile individuals with altered meiotic behavior, mostly specified as a reduction in chiasmata count in medium and large chromosomes, the presence of univalents, and the observation of tetraploid metaphases. Moreover, the number and the type of anomalies were found to be different between cells of the same individual, suggesting the coexistence of cell lines with normal meiotic behavior and cell lines with abnormalities. In addition, chromosomal abnormalities in metaphase I are significantly associated with oligozoospermia and/or polymorphic karyotype variants.

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Section: Discussionmentioning

confidence: 99%

Meiotic abnormalities in metaphase I human spermatocytes from infertile males: frequencies, chromosomes involved, and the relationships with polymorphic karyotype and seminal parameters

2014

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“…has been described in 45,X/46,XY mosaicism (12). It is also encountered in 1% of male patients being consulted for infertility in the general population (13). Interestingly, a possible link between Y chromosome rearrangement and disorder of sexual development has been observed (5,12,14,15,16,17).…”

Section: Introductionmentioning

confidence: 99%

“…These results underline that phenotypicly normal males, with a 45,X/46,XY karyotype, may have dysfunctional organs (kidney, heart, etc. ), final short stature (39,40), delayed puberty (41), and be infertile (13).…”

Section: Patient Gh Therapymentioning

confidence: 99%

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

Martinerie

Morel²,

Pienkowski³

et al. 2012

European Journal of Endocrinology

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Context: Gender assignment followed by surgery and hormonal therapy is a difficult decision in the management of 45,X/46,XY patients with abnormal external genitalia at birth considering the paucity of studies evaluating pubertal development and fertility outcome, most notably for patients raised as boys. Objective: The purpose of this study was to describe the pubertal course of 20 45,X/46,XY patients born with ambiguous genitalia and raised as boys. Methods: This is a multicenter retrospective study. Results: Mean age at study was 25.6G2.4 years. Eighty-five percent of the patients presented a 'classical' mixed gonadal dysgenetic phenotype at birth. Puberty was initially spontaneous in all but three boys, although in six other patients, testosterone therapy was subsequently necessary for completion of puberty. Sixty-seven percent of the remaining patients presented signs of declined testicular function at the end of puberty (increased levels of FSH and low levels of testosterone and/or inhibin B). Moreover, an abnormal structure of the Y chromosome, known to alter fertility, was found in 10 out of 16 (63%) patients. Two patients developed testicular cancer. Half of the patients have adult penile length of !80 mm. Mean adult height is 156.9G2 cm, regardless of GH treatment. Conclusions: In summary, 45,X/46,XY children born with ambiguous genitalia and raised as boys have an altered pubertal course and impaired fertility associated with adult short stature, which should, therefore, be taken into consideration for the management of these patients.

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“…Several studies have shown increased chromosomal aberrations [4,5] in 5% to 7% of patients with oligospermia, and 10% to 15% in patients with Azoospermia. Among several etiological factors, chromosomal abnormalities play a significant role in male infertility with 10% to 15% of aberrations [6,7] among which 5% of these are numerical or structural abnormalities, 80% to 85% of cases are due to sex chromosome anomalies and about 2% are mosaics with autosomal abnormalities [8][9][10][11]. This value increases to about 15% in Azoospermia males, largely due to cases with 47,XXY aneuploidy.…”

Section: Introductionmentioning

confidence: 99%

Cytogenetic abnormalities in 200 male infertile cases in the southern region of India

Sreenivasa¹,

Malini²,

Kumari³

et al. 2013

OJGen

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Chromosomal abnormalities are one of the major causes of male infertility. But the exact mechanism by which chromosomal anomalies induces infertility is still not clear. Many studies have documented the chromosomal abnormalities ranging from 2.2% to 15.7% in infertile men. The present study has been carried out to document and find out the genetic cause of male infertility in the Southern region of India. The cytogenetic analysis of 200 male infertile cases, referred due to primary infertility from 2009 to 2012, were analyzed by GTG banding and evaluated retrospectively. The semen analysis was also performed. A total of 15 cases (7.5%) showed chromosomal aberrations. Four (2%) were 47, XXY and mosaic 47,XXY; Two (1%) were structural autosomal abnormalities; Two (1%) were inversion Y; Seven (3.5%) cases were Y heterochromatin variants and 185 cases (92.5%) showed normal 46,XY karyotype. The chromosomal abnormalities in our study is also in agreement with the data from the literature. Also abnormal spermatogenesis is observed in these cases. Apart from chromosomal analysis further in depth molecular analysis and genetic counseling is suggestive in such cases, especially those interested in IVF technologies.

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Chromosomal Abnormalities and Polymorphisms in Infertile Men

Cited by 30 publications

References 10 publications

Meiotic abnormalities in metaphase I human spermatocytes from infertile males: frequencies, chromosomes involved, and the relationships with polymorphic karyotype and seminal parameters

Meiotic abnormalities in metaphase I human spermatocytes from infertile males: frequencies, chromosomes involved, and the relationships with polymorphic karyotype and seminal parameters

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

Cytogenetic abnormalities in 200 male infertile cases in the southern region of India

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