Tag STS in the AZF Region Associated With Azoospermia in a Tunisian Population

Hadjkacem-Loukil, Lobna; Ayadi, Imen; Bahloul, Ali; Ayadi, Hammadi; Keskes, Leila

doi:10.2164/jandrol.106.001271

Cited by 9 publications

(5 citation statements)

References 25 publications

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“…The prevalence in azoospermic men in the present study was similar to that reported by Foresta et al [16]. The prevalence in oligospermic men was higher than what most studies have reported [17], but it was similar to that reported in a Tunisian population [18].…”

Section: Discussionsupporting

confidence: 89%

Common Tag STSs in the AZF Region Associated with Azoospermia and Severe Oligospermia in Infertile Egyptian Men~!2009-12-21~!2010-04-13~!2010-06-18~!

Elhawary¹,

Seifeldin²,

Zaki³

et al. 2010

TOANDROJ

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Abstract:Screening of Yq has become one of the most frequently performed postnatal molecular genetic tests in Egypt. Our purpose was to determine the tag sequence-tagged sites (STSs) in the AZF -region of Yq associated with azoospermia and severe oligospermia in infertile Egyptian men. We analyzed blood samples from 49 infertile men (28 with azoospermia and 21 with severe oligospermia) using multiplex PCR for six common AZFa, AZFb, and AZFc STS markers,, as recommended by the European Academy of Andrology. Twenty-four (37%) microdeletions with five separate deletions were identified. We found 66.7% of the deletions in the AZFb locus, 20.8% in the AZFa locus, and 12.5% in the AZFc locus. Some common haplotypes (7 of 10) were identified in our sample population. Haplotypes H3 (corresponding to sY127) and H4 (corresponding to sY134) were the most common. We suggest that screening with a minimum of three STSs-sY86, sY127, and sY134-would provide the highest level of clinical sensitivity in genetic testing among infertile Egyptian men. Moreover, separate microdeletions were localized in infertile Y-chromosome patients.

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Section: Discussionsupporting

confidence: 89%

Common Tag STSs in the AZF Region Associated with Azoospermia and Severe Oligospermia in Infertile Egyptian Men~!2009-12-21~!2010-04-13~!2010-06-18~!

Elhawary¹,

Seifeldin²,

Zaki³

et al. 2010

TOANDROJ

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“…The reported frequencies of deletions in the AZF region vary from 1 to 55%, depending on the inclusion criteria and possibly on the STS markers used for screening, however, mostly an incidence below 15% is reported (22,23). In this study, 11 STS markers, including 6 STS strongly recommended by the European Molecular Genetics Quality Network (EMQN) and the European Academy of Andrology (EAA) guidelines, were used (14).…”

Section: Discussionmentioning

confidence: 93%

Cytogenetic abnormalities and Y-chromosome microdeletions in infertile Syrian males

2012

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Infertility is an important health issue affecting numerous couples. Approximately 30-50% of the cases of male infertility is due to unknown reasons. The main genetic factors involved in male infertility are chromosomal abnormalities and Y chromosome microdeletions within the Yq11 region. The genes controlling spermatogenesis located in the Yq11 region are termed azoospermia factor genes (AZF). Klinefelter syndrome (KS) is the most common of the chromosomal anomalies in the infertile male. AZF microdeletions on the Y chromosome are the most frequent genetic cause of male infertility. Screening for microdeletions in the AZFa, b and c regions of the Y chromosome showed a marked variation among different studies. The present study aimed to investigate the prevalence of such deletions in Syrian men. A total of 162 infertile males (97 azoospermic, 49 oligospermic and 16 severely oligospermic) were screened for chromosomal abnormalities and Y chromosome microdeletions using 28 markers in the AZF region. Twenty (12.34%) patients had chromosomal rearrangements, 17 of them showed sex chromosome abnormalities (11 of 17 patients within the azoospermic group had a KS of 64.7%), 2 patients had apparently balanced autosomal rearrangements, while 1 patient had an inversion. Of the 162 infertile men, 46 patients (28.4%) had Y chromosome microdeletions within the AZF-regions. Most frequently hit were the AZFc (34.8%), followed by the AZFbc, AZFa, AZFac, AZFbc, AZFb, AZFd, AZFab, AZFad, AZFbd, AZFabc and the AZFbcd. Combined AZF deletions involving three regions with chromosomal abnormalities were observed in one case. The higher frequency of AZF deletions in our study was comparable with frequencies in other countries and regions of the world, possibly due to the elevated number of the sequence-tagged site (STS) markers used for this screening.

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“…In our study, the absence of association between obesity and male infertility was due to the genetic background of infertile patients. In fact, in other study, we found that the male infertility was associated with AZF polymorphism (Hadjkacem Loukil et al ., ).…”

Section: Discussionmentioning

confidence: 97%

Relation between male obesity and male infertility in a Tunisian population

et al. 2014

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Obesity is associated with significant disturbance in the hormonal milieu that can affect the reproductive system. Male infertility affects approximately 6% of reproductive-aged men. It has been suggested that overweight men or men with obese body mass index (BMI) experience prolonged time to pregnancy, although the influence of male BMI on fertility remains understudied. We hypothesised that BMI is inversely correlated with fertility, manifested by reduced sperm concentration and varicocele. Males of mean age 32.74 ± 6.96 years with semen analyses and self-reported BMI were included (n = 98). Patient parameters analysed included age, BMI, pubertal timing, the development of varicocele, and leutinizing hormone, follicle-stimulating hormone and testosterone (n = 18). The mean age of the study population was 32.74 ± 6.96 years. The incidence of azospermia, oligozoospermia, normospermia and the development of varicocele did not vary across BMI categories. Male obesity is not associated with the incidence of sperm concentration and the development of varicocele.

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Tag STS in the AZF Region Associated With Azoospermia in a Tunisian Population

Cited by 9 publications

References 25 publications

Common Tag STSs in the AZF Region Associated with Azoospermia and Severe Oligospermia in Infertile Egyptian Men~!2009-12-21~!2010-04-13~!2010-06-18~!

Common Tag STSs in the AZF Region Associated with Azoospermia and Severe Oligospermia in Infertile Egyptian Men~!2009-12-21~!2010-04-13~!2010-06-18~!

Cytogenetic abnormalities and Y-chromosome microdeletions in infertile Syrian males

Relation between male obesity and male infertility in a Tunisian population

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