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FSH Gene Variation Responsible for Male and Female Infertility

a blog by Kim Griffiths, May 2, 2013

Scientists have discovered that variations in the coding of the gene for Follicle Stimulating Hormone (FSH) may provide insight into the diagnosis and treatment of male and female infertility.

FSH is produced by the pituitary gland and sends appropriate signals for egg maturation in women and sperm production in men. FSH binds at receptors on cells in the ovaries, testes in a healthy menstrual or sperm production cycle. For women, having a high FSH level can impact ovarian reserve, hinder ovulation, and can reduce her chances of getting pregnant. For men, low FSH can impact sperm production and affect sperm quality or quantity.

However, the study team concluded that a single change in the DNA of the FSH molecule can disrupt normal functioning and can be a potential cause of impaired fertility for men and women.

Presented at the European Congress of Endocrinology in Copenhagen, Denmark, the study examined hormone levels in 1,213 men and 365 women who were current patients at the Muenster fertility clinic and identified as having FSH gene variations. Men who presented with a specific FSH variation had decreased testicular volume and those with another type of genetic variation also had a 34% drop in sperm count.

Researchers identified gene variations which could improve fertility treatment efficacy for as much as 45% of infertile men and allow for fertility doctors to customize fertility treatment for their female and male patients based on this genetic variation.

Because the number of women enrolled in the study was small generalizable conclusions should not be made about FSH gene variations. Further research is required to determine the role of FSH gene variations in male and female infertility.


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