Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia

Dada, Rima; Gupta, Narmada P.; Kucheria, Kiran

doi:10.1007/bf02706215

Cited by 54 publications

(35 citation statements)

References 13 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: 69%

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: 69%

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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“…Moreover, about 10% to 15% of idiopathic cases of azoospermia and severe oligozoospermia have microdeletions in AZF regions as the etiologic factor [12][13][14]. The frequency of Y chromosome microdeletions varies between 1% [15] and 55% [16] in the worldwide whereas the few studies performed in Asian male populations showed frequencies of 7.6% to 16.5% in Japan [17][18][19][20][21][22], 11.0% to 19.4% in China [23,24], 10.6% to 11.7% in Taiwan [25,26], 6.4% in Hong Kong [27] and 2.0% to 12.0% in India [12,28,29]. A recently published study reported that the cumulative frequency of Y chromosome microdeletions was 3.5 % in infertile males [30].…”

Section: Abstract Y Chromosome Microdeletion Chromosomal Abnormalitmentioning

confidence: 99%

Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men

Kim

Choi

Park

et al. 2012

J Assist Reprod Genet

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Objectives To determine the prevalence of Y chromosome microdeletions in infertile Korean men with abnormal sperm counts and to assess the clinical features and frequency of chromosomal abnormalities in Korean patients with microdeletions. Methods A total of 1,306 infertile men were screened for Y chromosome microdeletions, and 101 of them had microdeletions. These 101 men were then retrospectively studied for cytogenetic evaluation, testicular biopsy and outcomes of IVF and ICSI. ResultsThe overall prevalence of Y chromosome microdeletions in infertile men was 7.7 % (101/1,306). Most microdeletions were in the AZFc region (87.1%), including deletions of AZFbc (24.7 %) and AZFabc (8.9 %). All patients with AZFa, AZFbc and AZFabc deletions had azoospermia, whereas patients with an AZFc deletion usually had low levels of sperm in the ejaculate or in the testis tissues. Chromosomal studies were performed in 99 men with microdeletions, 36 (36.4%) of whom had chromosomal abnormalities. Among the infertile men with Y chromosome microdeletions in this study, the incidence of chromosomal abnormality was 48.6% in the azoospermic group and 3.7% in the oligozoospermic group. Among the 69 patients with microdeletions and available histological results, 100.0% of the azoospermic group and 85.7% of the oligozoospermic group had histological abnormalities. The frequency of both chromosomal abnormalities and histological abnormalities was higher in the azoospermic group compared to the oligozoospermic group. Thirtyfour ICSI cycles with either testicular (n014) or ejaculated spermatozoa (n020) were performed in 23 couples with men with AZFc microdeletion. Thirteen clinical pregnancies (39.4%) were obtained, leading to the birth of 13 babies. Conclusions The study results revealed a close relationship between microdeletions and spermatogenesis, although IVF outcome was not significantly affected by the presence of the AZFc microdeletion. Nevertheless, Y chromosome microdeletions have the potential risk of being transmitted from infertile fathers to their offspring by ICSI. Therefore, before using ICSI in infertile patients with severe spermatogenic defects, careful evaluations of chromosomal abnormalities and Y chromosome microdeletions screening should be performed and genetic counseling should be provided before IVF-ET.Capsule A close relationship exists between microdeletions and spermatogenesis, although IVF outcome was not significantly affected by the presence of an AZFc microdeletion.

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“…A series of 9 specific STSs, mapped in the AZF region, and human zinc-finger protein-encoding genes (ZFX/ZFY) located on the X and Y chromosomes were selected. The ZFX/ZFY, acting as an internal control primers, were selected for molecular genetic analysis of microdeletion [13,14]. These specific STSs included SY84 and SY86 for AZFa, SY27, SY134, and SY143 for AZFb, SY157, SY254, and SY255 for AZFc, and SY152 for AZFd.…”

Section: Selection Of Primersmentioning

confidence: 99%

Male infertility in China: laboratory finding for AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China

Wang

Yang

et al. 2010

J Assist Reprod Genet

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Purposes To investigate the frequencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. Moreover, to compare the prevalence of these abnormalities with other countries and regions in the world. Methods 305 infertile men were enrolled. A complete semen analysis and reproductive hormones were measured according to standard methods. Multiplex polymerase chain reaction (PCR) amplification using nine specific sequencetagged sites (STS) were used to detect AZF microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding. Results Of the 305 infertile men, 28 (9.2%) had AZF microdeletions and 26 (8.5%) had chromosomal abnormalities. The most frequent microdeletions were in the AZFc+d, followed by AZFc, AZFb+c+d and AZFa. A total of 19 patients (82.6%) had Klinefelter′s syndrome (47, XXY) in the azoospermic group. Conclusions The freqencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China were comparable with infertile men from other countries and regions. However, there was a slightly higher prevalence rate of AZF microdeletions in oligozoospermic patients than reported in previous studies.

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Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia

Cited by 54 publications

References 13 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

Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men

Male infertility in China: laboratory finding for AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China

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