Genetic diagnostics of male infertility in clinical practice

Publication date: Available online 10 May 2017 Source:Best Practice & Research Clinical Obstetrics & Gynaecology Author(s): Ryan Flannigan, Peter N. Schlegel 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.
Source: Best Practice and Research Clinical Obstetrics and Gynaecology - Category: OBGYN Source Type: research