Men with infertility may benefit from hormone therapy
Problems with low sperm count or unexplained male infertility could be resolved with hormones (FSH) without resorting to invasive and expensive procedures
1 in 2 men stand to benefit
Follicle stimulating hormone (FSH) plays an important role in male reproduction as they promote spermatogenesis (sperm production). 41% men have variant FSH receptor, and 8% have variant FSH beta-subunit which causes decreased activity of the hormone and/or its receptor. This can lead to infertility which may or may not be observable in sperm characteristics. Studies have shown that both men with and without azoospermia or oligozoospermia, decreased motile sperm count, as well as men with idiopathic (unexplained) infertility may be affected by these genetic variations. Accurate diagnosis can guide personalized treatment.
Target therapy, avoid expensive procedures
Studies show a high success rate of short-term hormonal therapy in infertile men who have been diagnosed with genetic variations in FSHR and/or FSHB. Men and couples with these mutations are likely to benefit from hormonal therapy without resorting to expensive artificial reproductive techniques such as IVF or ICSI. As a result of FSH therapy, sperm and fertility issues may improve enabling successful and natural reproduction, or less expensive procedures such as IUI (intrauterine insemination).
Genetics of FSH and male fertility, and FAQs
The FSH, a reproductive hormone, comprises of alpha and beta subunits. The beta-subunit encoded by the gene FSHB, binds to its receptor, coded by FSHR. Mutation in FSHB gene promoter, leads to reduced gene expression. Whereas, mutation in FSHR decreases FSH binding, and thus, its downstream effects. The level of hormone in blood is affected only minimally, but the consequences can range from normal to severely reduced sperm levels.
The test detects specific mutations in FSHR (2039A>G) and FSHB (-211G>T) to diagnose the cause for infertility and guide targeted treatment. The test is performed by allele-specific real-time PCR, which has nearly 100% analytical accuracy and sensitivity. However, other mutations or factors affecting male fertility are not tested.
References
Selice R et al. 2011, International Journal of Andrology
Tuttelmann F et al. 2012, Endocrine Research
Ferlin A et al. 2011, Fertility and Sterility
Lindgren I et al. 2012, Pharmacogenetics and Genomics