Genetic and sex hormone analysis of infertile men

Xie, Xing-Mei; Guo, Xiaoyan; Li, Fuguang; Tan, Weihe; Yin, Wen; Chen, Runqinag

doi:10.1177/0300060519875893

Cited by 5 publications

(3 citation statements)

References 19 publications

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“…These translocation groups might have not overcome meiosis I and become blocked differentiation of primary spermatocyte stage forcing them to oligozoospermia. Infertile men with 44 translocations, higher frequency of autosome-autosomal translocations were seen in this study, as reported by earlier workers [1,4,5]. Parent carriers with reciprocal translocations are at a risk of infertility and recurrent pregnancy loss (RPL).…”

Section: Discussionsupporting

confidence: 87%

A report on chromosomal translocation types in relation to male infertility

Shah¹,

Mistry²,

Kansara³

et al. 2022

Eastern J Med Sci

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Introduction: Male infertility (MI) in about 50% of couples is constituted due to genetic, hormonal, and epigenetic factors. Almost 10% of it is contributed to genetic anomalies. Objectives: This study was undertaken in 787 males with infertility and the impacts of the type of translocations in these cases were studied in relation to MI. Materials and Methods: Five milliliters (ml) of blood were drawn from referred cases suspected with MI and were used for cytogenetic analysis with Giemsa stain following International System for Human Cytogenetic Nomenclature. Results: Of 6142 referral cases, 787 were detected with MI (787/6142; 12.8%). Forty-four translocations (44/787; 5.6%) were detected in 787 infertile men. Other chromosomal abnormalities were 21% (167/787) in them. Among all translocations, an autosome-autosomal translocations were higher in frequency (24/787; 3.1%) than Robertsonian (15/787; 1.9%) and autogonosomal translocations (5/787; 0.6%). Few translocations seemed to be rare as our knowledge is concerned. Maharashtra had high frequency of translocations followed by Delhi union territory (UT) and Gujarat (07 each) and other states. Most of the translocations were related to infertility. Seven males had primary infertility (7/44) and six with secondary type (6/44) in this study. Conclusions: These reciprocal translocations are important in causation of infertility affecting testicular spermatogenesis. Few are rare in our study. Such cases are clinically suggested for counseling before adopting assisted reproductive technologies.

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Section: Discussionsupporting

confidence: 87%

A report on chromosomal translocation types in relation to male infertility

Shah¹,

Mistry²,

Kansara³

et al. 2022

Eastern J Med Sci

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“…Today, even though we use modern cytogenetic techniques, many cytogeneticists still believe that the inversion of chromosome 9 (p11q13/p12q13) is a variant of constitutive heterochromatin, and natural polymorphism in the population [12]. But, many of them still have controversial opinions, believing that this chromosomal change is associated with certain clinical conditions [13]- [15]. However, one thing is certain, pericentric inversion 9 is the most common pericentric inversion cytogeneticists found in 1% to 3.57% of the general population [16]- [18].…”

Section: Discussionmentioning

confidence: 99%

Prevalence And Possible Effects of Pericentric Inversion of Chromosome 9 on Reproductive Failure in A Human Population of Northeast Bosnia and Herzegovina: A 10-year Retrospective Study

Mešanović

Perić²,

Vareškić³

2023

EJMED

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Introduction: Since 1956 karyotype analysis becomes an essential part of routine medical diagnostics, and helped medical professionals investigate the origin of genetic abnormalities in many constitutional and cancer diseases. Karyotyping also provided more information in the monitoring of fertility problems. An inversion does not usually have a phenotypic effect, especially if it involves a heterochromatin area, such as 9qh. Chromosome 9 polymorphism, with breakpoints p11q13/p12q13, can be the cause of variant abnormal clinical conditions such as congenital abnormalities, hematological diseasesand also could have a connection with pregnancy loss and fertility failure. Methods: A retrospective study was conducted on 1784 cytogenetics examination results from peripheral blood samples in the period from January, 2012 to December, 2022. The patients, carriers inv(9) in their karyotype were highlighted for detailed analysis. Results: Among the 1784 patients, constitutional pericentric inversion inv(9)(p11q13) was found in 13 females (0,72%), while it was seen in 17 cases of males (0.95%). The total average amount of inv (9) in this study is 1.68%. The inv(9) population consists of 60% cases with infertility problems, 6,66% females who had spontaneous abortus and 33,33% were patientsreferred to our laboratory for other reasons. Conclusion: In this research, the prevalence of inv (9) in the population of patients of Northeast Bosnia and Herzegovina who had the reproductive failure is shown. We believe that these results will help in finding the key to the truth about the association of this chromosome polymorphism with some pathological conditions such as fertility problems.

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“…The inversion of chromosome 9 used to be considered a normal variant with no clinical phenotypic effect. 2 However, some studies using classical cytogenetics have recently shown that inv9 could be associated with infertility, 4,5 recurrent miscarriages, 6 and idiopathic reproductive failure. 7 Various studies on inv9 have also showed an association with azoospermia, congenital anomalies, growth retardation, and, rarely, with an abnormal phenotype.…”

Section: Introductionmentioning

confidence: 99%

Analysis of the clinical features of pericentric inversion of chromosome 9

Xie

Tan

et al. 2020

J Int Med Res

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Objective The pericentric inversion of chromosome 9 (inv9) is one of the most common structural balanced chromosomal variations, and it is considered to be a normal population variant. The aim of this study was to re-evaluate the clinical impact of patients with inv9. Methods We studied the karyotypes from 4853 patients at a single center and retrospectively reviewed their clinical data. Results There were 67 inv9 patients among 2988 adults, and 62 of them showed different clinical features, including male and female infertility, oligoasthenozoospermia, and azoospermia. Thirty-one cases of inv9 were found in 1865 fetuses, including two cases in chorionic villus (6.90%) and 29 in amniotic fluid (1.67%), but there were no cases in umbilical cord blood. The rates of fetal phenotype abnormal and adverse pregnancy outcome with inv9 in the chorionic villus were 100.00% (2/2), while only 17.24% (5/29) in the amniotic fluid showed abnormalities, among which 60.00% (3/5) had adverse pregnancy outcomes. Conclusions Although there is no clear evidence that inv9 is pathogenic, the genetic counseling on inv9 in early pregnancy and adults needs to be given more attention.

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Genetic and sex hormone analysis of infertile men

Cited by 5 publications

References 19 publications

A report on chromosomal translocation types in relation to male infertility

A report on chromosomal translocation types in relation to male infertility

Prevalence And Possible Effects of Pericentric Inversion of Chromosome 9 on Reproductive Failure in A Human Population of Northeast Bosnia and Herzegovina: A 10-year Retrospective Study

Analysis of the clinical features of pericentric inversion of chromosome 9

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