Abstract

Male factor contributes to roughly half of all couples with infertility.1 Most cases of male infertility are diagnosed via abnormal semen analysis, though the underlying etiology of the abnormal semen parameters are often unknown.1 One likely explanation is the alteration of genes which are critical for normal spermatogenesis. Some carriers for autosomal recessive diseases such as cystic fibrosis are known to have subfertility.2 Currently, data regarding the combination of other autosomal recessive disorders to abnormal sperm parameters is very limited.

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