PMID- 24347931 OWN - NLM STAT- PubMed-not-MEDLINE DCOM- 20140624 LR - 20211021 IS - 0974-1208 (Print) IS - 1998-4766 (Electronic) IS - 1998-4766 (Linking) VI - 6 IP - 3 DP - 2013 Jul TI - A clinical appraisal of the genetic basis in unexplained male infertility. PG - 176-82 LID - 10.4103/0974-1208.121419 [doi] AB - Unexplained male infertility (UMI), the inability to reproduce despite having a normal sexual history, physical exam and semen analysis, can have a genetic origin. Currently, few diagnostic tools are available for detecting such genetic abnormalities. Karyotyping and fluorescence in situ hybridization (FISH) are respectively used for chromosomal alterations in somatic cells and sperm aneuploidy assessment. Gene sequencing and mutational analysis have been introduced for identifying specific mutations and polymorphisms. Other approaches to the molecular evaluation of spermatozoa are under investigation, including array comparative genomic hybridization and whole-genome sequencing and non-coding ribonucleic acid arrays. Although treating cytogenetic abnormalities and genetic aberrations is still out of reach, the integration of these novel techniques may unravel hidden genetic defects in UMI. Finally, a deeper understanding of the sperm epigenome might allow the development of therapies based on epigenome modifications. This review focuses on the genetic basis of UMI and highlights the current and future methods for the evaluation of genetic defects as they relate to UMI. Review of the literature was carried out using ScienceDirect, OVID, PubMed and MedLine search engines. FAU - Esteves, Sandro C AU - Esteves SC AD - Male Infertility Sector ANDROFERT, Andrology and Human Reproduction Clinic, Referral Center for Male Reproduction, Campinas, Sao Paulo, Brazil. LA - eng PT - Journal Article PT - Review PL - India TA - J Hum Reprod Sci JT - Journal of human reproductive sciences JID - 101473512 PMC - PMC3853873 OTO - NOTNLM OT - Diagnosis OT - epigenetics OT - genetics OT - genome OT - male infertility OT - unexplained infertility COIS- Conflict of Interest: None declared. EDAT- 2013/12/19 06:00 MHDA- 2013/12/19 06:01 PMCR- 2013/07/01 CRDT- 2013/12/19 06:00 PHST- 2013/09/03 00:00 [received] PHST- 2013/09/13 00:00 [revised] PHST- 2013/09/14 00:00 [accepted] PHST- 2013/12/19 06:00 [entrez] PHST- 2013/12/19 06:00 [pubmed] PHST- 2013/12/19 06:01 [medline] PHST- 2013/07/01 00:00 [pmc-release] AID - JHRS-6-176 [pii] AID - 10.4103/0974-1208.121419 [doi] PST - ppublish SO - J Hum Reprod Sci. 2013 Jul;6(3):176-82. doi: 10.4103/0974-1208.121419.