Abstract
Infertility affects around 1 in 10 men and in most cases the cause is unknown. The Y chromosome plays an important role in spermatogenesis and specific deletions of this chromosome, the AZF deletions, are associated with spermatogenic failure. Recently partial AZF deletions have been described but their association with spermatogenic failure is unclear. Here we screened a total of 339 men with idiopathic spermatogenic failure, and 256 normozoospermic ancestry-matched men for chromosome microdeletions including AZFa, AZFb, AZFc, and the AZFc partial deletions (gr/gr, b1/b3 and b2/b3).AZFa and AZFc deletions were identified in men with severe spermatogenic failure at similar frequencies to those reported elsewhere. Gr/gr deletions were identified in case and control populations at 5.83% and 6.25% respectively suggesting that these deletions are not associated with spermatogenic failure. However, b2/b3 deletions were detected only in men with spermatogenic failure and not in the normospermic individuals. Combined with our previous data this shows an association of the b2/b3 deletion (p = 0.0318) with spermatogenic failure in some populations. We recommend screening for this deletion in men with unexplained spermatogenic failure.
Highlights
Infertility is defined as the inability to conceive or produce an offspring after one year of unprotected intercourse [1]
Infertile men can present with azoospermia, oligozoospermia, asthenozoospermia, teratozoospermia or by any combination of these
Deletions affecting the AZFa region are associated with Sertoli cell only type I syndrome (SCOS type I) that is characterized by the total absence of germ cells in seminiferous tubules and associated with non-obstructive azoospermia
Summary
Infertility is defined as the inability to conceive or produce an offspring after one year of unprotected intercourse [1]. Tiepolo and Zuffardi in 1976 identified deletions of the long arm of the Y chromosome associated with spermatogenic failure [5]. These deletions were characterised in the euchromatic part of the long Y arm and designated as AZoospermia Factors (AZFa, AZFb and AZFc) [6]. These regions contain several genes or gene families that are expressed in the testis and involved in spermatogenesis [7]. The most frequently deleted region is AZFc (approximately 60% of cases), followed by deletions of the AZFb and AZFb+c or AZFa+b+c regions (35%), while isolated AZFa deletions are rare (5%) [9]
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