High prevalence of genetic abnormalities in Middle Eastern patients with idiopathic non-obstructive azoospermia

Alhalabi, Marwan; Kenj, Mazen; Monem, Fawza; Mahayri, Zaina; Alchamat, Ghalia Abou; Madania, Ammar

doi:10.1007/s10815-013-9995-z

Cited by 24 publications

(14 citation statements)

References 56 publications

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“…et al, ), and Iran (Yousefi‐Razin, Nasiri, & Omrani, ) where about 12% microdeletions were found among severely oligozoospermic or azoospermic men. In 66 (7.5%) of 880 patients with nonobstructive azoospermia from the Middle East, but not specifying the individual nationality, AZF deletions were detected, most frequently AZFb deletions (33.3%), but also AZFbc deletions in 17% (Alhalabi et al, ). A lower incidence of AZF deletions was found in 7/142 (5%) Jordanian patients with nonobstructive azoospermia (Batiha et al, ).…”

Section: Discussionmentioning

confidence: 99%

Genetic investigations on causes of male infertility in Western Saudi Arabia

et al. 2019

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In recent years, genetic studies have yielded great progress in elucidating causes of male infertility. This investigation aims to identify frequent genetic abnormalities, that is, sex chromosome aneuploidies and Y‐chromosome microdeletions among infertile men in Western Saudi Arabia. From a population of infertile patients, 88 male patients with either azoospermia or severe oligozoospermia (sperm concentration <5 million/ml) were selected. In addition to a thorough clinical workup, karyotypes and Y‐chromosomal microdeletions were investigated. Among those 88 infertile patients, we detected six patients with Klinefelter syndrome, two with 47 XYY syndrome and two with Y‐chromosome microdeletions AZFb,c. While the prevalence of sex chromosome aneuploidies was in the range of globally investigated populations, the microdeletions appeared to be less frequent in Western Saudi Arabia compared to other regions of the world. All genetically abnormal cases showed sperm concentration <1 million/ml, and hence, this appears to be the threshold for warranting genetic investigations in Western Saudi Arabia. Since Klinefelter and 47 XYY syndromes were only discovered late in life, upon an infertility investigation, sex chromosome aneuploidies due to their many‐fold comorbidities require earlier medical attention. A neonatal screening programme is suggested for detection of these aneuploidies in Saudi Arabia for the general health benefit of these patients.

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Section: Discussionmentioning

confidence: 99%

Genetic investigations on causes of male infertility in Western Saudi Arabia

et al. 2019

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“…To date, few genetic studies have been conducted in Syria to identify common mutations and genetic abnormalities in infertile couples 14. In conclusion, this paper reports the existence of the c.1783C>T mutation in the AR gene receptor in unrelated men suffering from idiopathic male infertility.…”

Section: Discussionmentioning

confidence: 77%

“…However, non-obstructive azoospermia is mainly due to hypo-orchidism, which appears as hypospermatogenesis or maturation arrest or as a complete failure in the formation of sperm (Sertoli-cell-only syndrome) 13. In non-obstructive azoospermia, routine clinical examination should be performed for anatomical integrity of genital system, alongside laboratory tests including FSH, LH, PRL and T, followed by karyotype and molecular analysis of the AZF region on chromosome Y due to the high prevalence of genetic abnormalities in Middle Eastern patients with idiopathic non-obstructive azoospermia 14. Certain mutations cause non-obstructive azoospermia as microdeletions in the AZF region of the Y chromosome or mutations in an essential gene such as the AR gene 15.…”

Section: Discussionmentioning

confidence: 99%

Mild androgen insensitivity syndrome (MAIS): the identification of c.1783C>T mutation in two unrelated infertile men

Alchamat

Madania

Alhalabi³

2017

BMJ Case Reports

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Two unrelated men complaining of primary male infertility presented to Orient Hospital in Damascus city. Physical examination showed moderate hypoandrogenic features. Both men were azoospermic. Hormone profiles revealed an elevation of follicle-stimulating hormone in one patient, but all the other hormones tested were within normal limits for both patients. Further genetic analyses, including karyotype and microdeletions in the AZF region of the Y chromosome, were normal in both patients. Mild androgen insensitivity syndrome was expected in the two patients. Sequencing analysis of the first exon in the androgen receptor (AR) gene have shown c.1783C>T mutation in the two patients with azoospermia. This paper sheds light on the need to screen for mutations in the AR gene, causing male infertility whenever mild hypoandrogenic features are present with unexplained male infertility.

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“…However, only the rs3129878 (HLA‐DRA) within the HLA region was further verified as NOA‐risk locus by two current case–control studies (Jinam et al ., and Tu et al ., ), but not rs498422 (C6orf10) and rs7194 (HLA‐DRA). As there are still a large portion of NOA patients not been well explained with known factors (Alhalabi et al ., ), these three loci within the HLA region urgently called for further confirmation in independent populations. Therefore, we hypothesised that these three GWAS‐linked loci within the HLA region point towards risk factors of NOA in the Han Chinese populations.…”

Section: Introductionmentioning

confidence: 99%

Association and meta-analysis of HLA and non-obstructive azoospermia in the Han Chinese population

et al. 2016

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The exact aetiology and pathogenesis of most non-obstructive azoospermia (NOA) are still unknown. The previous two genomewide association studies (GWASs) have identified three different loci within the HLA region for NOA in the Han Chinese population, including rs3129878, rs498422 and rs7194. To further validate the risk of three GWAS-linked loci for NOA, we conducted a case-control study of these three risk loci in an independent Han Chinese male population, with 603 NOA patients and 610 controls. Furthermore, we also performed a meta-analysis of five studies on these three NOA-risk loci. The case-control study strongly suggested a significant association between loci rs3129878, rs498422 and rs7194 and NOA (P = 6.75 × 10 (OR = 2.2586), P = 0.0060 (OR = 1.4013) and P = 0.0128 (OR = 1.2626) respectively). Our meta-analyses also supported the susceptibility of these three risk loci to NOA (P < 0.01). The risk variants within the HLA region potentially have a strong effect on males at risk of NOA, and may serve as diagnostic markers for male infertility. However, considering genetic difference between different populations, future validating studies in larger independent samples and animal experiments are suggested.

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High prevalence of genetic abnormalities in Middle Eastern patients with idiopathic non-obstructive azoospermia

Cited by 24 publications

References 56 publications

Genetic investigations on causes of male infertility in Western Saudi Arabia

Genetic investigations on causes of male infertility in Western Saudi Arabia

Mild androgen insensitivity syndrome (MAIS): the identification of c.1783C>T mutation in two unrelated infertile men

Association and meta-analysis of HLA and non-obstructive azoospermia in the Han Chinese population

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