Objectives. Genetic causes can be directly responsible for various clinical conditions of male infertility. In this review, we shall discuss the various genetic causes that have acquired considerable importance from the viewpoint of infertility, whether male and/or of the couple, thus contributing to accomplishing more accurate diagnoses. Material and methods. We performed a review of published in scientific journals and literature using as key words "genetic causes" "male infertility", "spermatogenesis", "medically assisted procreation techniques" and similar words. Results. It is known that 10-15% of cases of azoospermia and severe oligozoospermia are genetically-based, represented mostly by Klinefelter's syndrome (KS) and by the microdeletions of the Y chromosome. The prevalence of KS among infertile men is considerably high: up to 5% in the cases of severe oligozoospermia and up to 10% in cases of azoospermia. The microdeletions of the AZF region, the second most common cause of male infertility, determine a severe primitive testiculopathy with consequent azoospermia or severe oligozoospermia. With regard to the chromosomal alterations, the predominating anomalies are those associated with the sex chromosomes. However, a wide range of structural autosomal anomalies has been identified such as Robertsonian and reciprocal translocations, inversions, duplications and deletions, that can be associated with infertility. Lastly, mutations in single genes can be directly responsible for male infertility, such as the gene CFTR which, once mutated, causes cystic fibrosis and the 'non-formation' of the vas deferens; the gene KAL 1, which is responsible for Kallmann's syndrome; the gene which codifies the receptor of androgens that, once mutated, causes syndromes of insensitivity to androgens and alterations of spermatogenesis and lastly the genes INSL3-RXFP2, the mutations of which are associated with anomalies in the descent of the testicles, as in cryptorchidism. Conclusion. Genetic anomalies have assumed enormous clinical importance, not only because they may cause infertility in the offspring, but also and mainly because they are capable of causing more severe illnesses. The high frequency of genetic alterations in infertile couples demands appropriate and correct diagnosis of these patients in order to reduce the risk of transmitting genetic anomalies to the offspring. Whether to undertake genetic investigations and if so, which in particular, may be indicated through detailed clinical assessment

Genetic aspects of male infertility.

LA VIGNERA, SANDRO SALVUCCIO MARIA;
2010

Abstract

Objectives. Genetic causes can be directly responsible for various clinical conditions of male infertility. In this review, we shall discuss the various genetic causes that have acquired considerable importance from the viewpoint of infertility, whether male and/or of the couple, thus contributing to accomplishing more accurate diagnoses. Material and methods. We performed a review of published in scientific journals and literature using as key words "genetic causes" "male infertility", "spermatogenesis", "medically assisted procreation techniques" and similar words. Results. It is known that 10-15% of cases of azoospermia and severe oligozoospermia are genetically-based, represented mostly by Klinefelter's syndrome (KS) and by the microdeletions of the Y chromosome. The prevalence of KS among infertile men is considerably high: up to 5% in the cases of severe oligozoospermia and up to 10% in cases of azoospermia. The microdeletions of the AZF region, the second most common cause of male infertility, determine a severe primitive testiculopathy with consequent azoospermia or severe oligozoospermia. With regard to the chromosomal alterations, the predominating anomalies are those associated with the sex chromosomes. However, a wide range of structural autosomal anomalies has been identified such as Robertsonian and reciprocal translocations, inversions, duplications and deletions, that can be associated with infertility. Lastly, mutations in single genes can be directly responsible for male infertility, such as the gene CFTR which, once mutated, causes cystic fibrosis and the 'non-formation' of the vas deferens; the gene KAL 1, which is responsible for Kallmann's syndrome; the gene which codifies the receptor of androgens that, once mutated, causes syndromes of insensitivity to androgens and alterations of spermatogenesis and lastly the genes INSL3-RXFP2, the mutations of which are associated with anomalies in the descent of the testicles, as in cryptorchidism. Conclusion. Genetic anomalies have assumed enormous clinical importance, not only because they may cause infertility in the offspring, but also and mainly because they are capable of causing more severe illnesses. The high frequency of genetic alterations in infertile couples demands appropriate and correct diagnosis of these patients in order to reduce the risk of transmitting genetic anomalies to the offspring. Whether to undertake genetic investigations and if so, which in particular, may be indicated through detailed clinical assessment
male infertility
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/11283
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