Laboratory of Human Molecular Genetics, Faculty of Medicine, CHU Hospital Habib Bourguiba, Sfax 3029, Tunisia.
Reprod Biomed Online. 2009 Oct;19(4):547-51. doi: 10.1016/j.rbmo.2009.05.006.
Because of conflicting results about the association between azoospermic patients with Klinefelter syndrome (KFS) and azoospermia factor (AZF) polymorphism, and because nothing is known about the association of KFS with partial AZFc deletions, an association study was performed in Tunisian KFS patients. A total of 29 azoospermic patients and 13 fertile men were enrolled in this study. The classical microdeletions were found in six out of nine KFS patients (67%). Gr/Gr deletions and b2/b3 deletions are partial AZFc deletions. One KFS patient without classical microdeletions had a gr/gr deletion. This deletion (gr/gr) was observed in four out of 18 azoospermic patients without chromosomal abnormalities. In addition, two b2/b3 and one AZFc deletion were identified in this group. All KFS patients had elevated plasma FSH and LH concentrations, but normal plasma testosterone concentration. The testis biopsy of three samples with Y microdeletions revealed Sertoli cell-only syndrome. No Y microdeletions or partial AZFc deletions were found in the fertile group. It is concluded that in the patient population KFS patients may harbour Y microdeletions, and screening for these should be part of the diagnostic work-up, particularly in those considering assisted reproductive techniques. However, partial AZFc deletions might not play a role in predisposing genetic background for the phenotype of azoospermic KFS subjects.
由于克氏综合征（KFS）患者与无精子因子（AZF）多态性之间的关联存在相互矛盾的结果，并且对于 KFS 与部分 AZFc 缺失之间的关联一无所知，因此在突尼斯 KFS 患者中进行了一项关联研究。本研究共纳入 29 名无精子症患者和 13 名正常生育男性。在 9 名 KFS 患者中有 6 名（67%）发现了经典微缺失。Gr/Gr 缺失和 b2/b3 缺失是部分 AZFc 缺失。一名无经典微缺失的 KFS 患者存在 gr/gr 缺失。在没有染色体异常的 18 名无精子症患者中，有 4 名患者观察到这种缺失（gr/gr）。此外，在该组中还鉴定出了 2 个 b2/b3 和 1 个 AZFc 缺失。所有 KFS 患者的血浆 FSH 和 LH 浓度升高，但血浆睾酮浓度正常。三个存在 Y 微缺失样本的睾丸活检显示出唯支持细胞综合征。在正常生育组中未发现 Y 微缺失或部分 AZFc 缺失。综上所述，在患者人群中，KFS 患者可能存在 Y 微缺失，应将其作为诊断检查的一部分进行筛查，特别是在考虑辅助生殖技术的情况下。然而，部分 AZFc 缺失可能不会在无精子症 KFS 患者的表型中发挥遗传背景的作用。
