Idiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion

Ambasudhan, Rajesh; Singh, Kiran; Agarwal, Jolly; Singh, SK; Khanna, Anuradha; Sah, Ravindra; Singh, Inder; Raman, Rajiva

doi:10.1007/bf02703336

Cited by 40 publications

(38 citation statements)

References 25 publications

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“…The reason is probably the strict selection criteria applied in our study as well as geographic and ethnic differences. Within India, studies have been carried out in different regions, which showed a frequency between 5% and 9.5% (21)(22)(23). The selection criteria in these were also different from the criteria used in our study, the number of STSs used were variable.…”

Section: Discussionmentioning

confidence: 68%

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

Abid

Maitra

Meherji

et al. 2008

Clinical Laboratory Analysis

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The genetic basis of infertility has received increasing recognition in recent years, particularly with the advent of assisted reproductive technology. It is now becoming obvious that genetic etiology for infertility is an important cause of disrupted spermatogenesis. Y-chromosome microdeletions and abnormal karyotype are the two major causes of altered spermatogenesis. To achieve biological fatherhood, intracytoplasmic sperm injection (ICSI) is performed in cases of severe infertility with or without genetic abnormalities. There is a concern that these genetic abnormalities can be transmitted to the male progeny, who may subsequently have a more severe phenotype of infertility. A total of 200 men were recruited for clinical examinations, spermiograms, hormonal profiles, and cytogenetic and Yq microdeletion profiles. Testicular biopsy was also performed whenever possible and histologically evaluated. Genetic abnormalities were seen in 7.1% of cases, of which 4.1% had chromosomal aberrations, namely Klinefelter's mosaic (47XXY) and Robertsonian translocation, and 3.0% had Yq microdeletions, which is very low as compared to other populations. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) were significantly increased in men with nonobstructive azoospermia (NOA) as compared to severe oligoasthenozoospermia (Po0.0001), whereas testosterone levels were significantly decreased in men with microdeletions as compared to men with no microdeletions (Po0.0083). Low levels of androgen in men with microdeletions indicate a need to followup for early andropause. Patients with microdeletions had more severe testicular histology as compared to subjects without deletions. Our studies showed a significant decrease (Po0.002) in the serum inhibin B values in men with NOA, whereas FSH was seen to be significantly higher as compared to men with severe oligoasthenozoospermia (SOAS), indicating that both the Sertoli cells as well the germ cells were significantly compromised in cases of NOA and partially affected in SOAS. Overall inhibin B in combination with serum FSH would thus be a better marker than serum FSH alone for impaired spermatogenesis. In view of the genetic and hormonal abnormalities in the group of infertile men with idiopathic severe oligozoospermia and NOA cases, who are potential candidates for ICSI, genetic testing for Y-chromosome microdeletions, karyotype, and biochemical parameters is advocated.

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Section: Discussionmentioning

confidence: 68%

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

Abid

Maitra

Meherji

et al. 2008

Clinical Laboratory Analysis

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“…However, in the data compiled herein there are several instances of isolated STS deletions, in most studies only single STS PCR strategy has been used. Except for one study [3], none of the deletions identified using the unconventional markers have been validated by Southern blotting or independent PCR technique. Thus there is a possibility that some of the deletions reported herein may be false positives.…”

Section: Discussionmentioning

confidence: 99%

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Sen

Pasi

Dada

et al. 2013

J Assist Reprod Genet

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Purpose Yq microdeletions are the leading genetic cause of male infertility and its detection is clinically relevant for appropriate genetic counseling. We aimed to determine the prevalence and type of Yq microdeletions, the associated seminal phenotypes and the STS markers that are relevant for its testing in Indian population. Methods Yq microdeletion analysis was carried out in 1,636 infertile cases in our centers. Additional data was collected from published studies in Indian population leading to a total of 3,647 cases. Results In our cohort, 3.4 % (56/1,636) of infertile men had Yq microdeletions. Combining the data from other published studies identified 215/3,647 (5.8 %) infertile individuals to harbor Yq microdeletions; with 6.4 % in azoopsermia, 5.8 % in oligozoospermia and 3.2 % in oligoasthenozoospermia and teratozoospermia cases. No significant differences in the deletion frequencies were observed between idiopathic vs non idiopathic cases (5.8 vs 8.6 % respectively). Deletions of AZFc were at highest frequency (46.6 %) with double deletions most commonly observed in azoospermic subjects. With respect to the STS markers, screening with the six European Academy of Andrology (EAA) markers would miss 3

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“…However, the frequency of AZF microdeletions in azoospermic males varies considerably across studies and populations (3-55%) (Foresta et al, 1998;Ambasudhan et al, 2003;Vogt et al, 2004;Behulova et al, 2011). Such a wide range of variation is likely not only due to the effects of geography, ethnicity, and environmental factors, but also to the choice of inclusion criteria and the number of STSs used in different laboratories (Ambasudhan et al, 2003;Mitra et al, 2006).…”

Section: Discussionmentioning

confidence: 99%

“…Microdeletions of azoospermia factor (AZF) loci on the long arm of the Y chromosome are a major cause of male infertility in populations throughout the world (Mitra et al, 2006;Li et al, 2008;Wang et al, 2010). As early as 1976, Tiepolo and Zuffardi followed by other authors postulated that genes and gene families located on locus 11 of the Y chromosome long arm (Yq11) were associated with male germ cell development (Ambasudhan et al, 2003;Wang et al, 2010;Behulova et al, 2011). It was later found that microdeletions of four subregions of the AZF region (AZFa, AZFb, AZFc, and AZFd) led to various types of spermatogenesis impairments, from teratozoospermia to infertility, with different population distributions depending on their Y haplogroup profile (Li et al, 2008;Wang et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

“…Some studies have shown an increased prevalence of classic AZF microdeletions in azoopspermic KFS patients, and suggested that partial AZFc microdeletions might not play a role in laying the genetic background for KFS azoospermic phenotypes (Mitra et al, 2006;Hadjkacem-Loukil et al, 2009;Ceylan et al, 2010). However, several studies have found no association between these two genetic disorders (Tateno et al, 1999;Lee et al, 2000;Ambasudhan et al, 2003;Choe et al, 2007;Balkan et al, 2008;Behulova et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

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Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Zhang¹,

Zhang²,

Wang³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results 4973©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (4): 4972-4980 (2013) AZF microdeletions in azoospermic KFS patients were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.

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Idiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion

Cited by 40 publications

References 25 publications

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

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