Genetic diagnostics of male infertility in clinical practice

Abstract

Approximately 15% of couples are infertile. Male factors contribute to infertility in over 50% of cases. Identifiable genetic abnormalities contribute to 15%-20% of the most severe forms of male infertility, azoospermia. In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, Kallmann syndrome, y-microdeletions, Robertsonian translocations, autosomal inversions, mixed gonadal dysgenesis, x-linked and autosomal gene mutations, and cystic fibrosis transmembrane conductance regulator abnormalities. We also briefly comment on novel biomarkers for male infertility.

Keywords: CBAVD; Robertsonian translocations; Y chromosome; autosomal translocations; genetics; klinefelter; male infertility; mixed gonadal dysgenesis; y-microdeletions.