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Male Infertility and Sexual Medicine

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Male Infertility Genetics Laboratory

The male infertility genetics laboratory has been both nationally and internationally recognized for providing exceptional clinical diagnostic services related to male infertility as well as conducting innovative basic and translational science research.听

Our NIH funded laboratory has received generous support from private foundations and donors. Their significant contributions allow us to better understand male infertility, reproductive medicine and other urologic conditions.听

Our research focuses on:听

  • Identifying the molecular basis for male infertility
  • Preserving fertility in Klinefelter syndrome and other genetic disorders听
  • Finding the role small RNAs play in regulating testicular function and prostate cancer听

Male infertility is common and affects up to 3% of men in the general population. Sperm is produced in the testes from spermatogonial stem cells (SSCs), the "grandfather of sperm." Self-renewal of SSCs and commitment toward further divisions is regulated by complex interactions between germ cells and Sertoli cells.听

There are different types of male infertility:听

  • Hypospermatogenesis: production of sperm is present, but numbers are low听
  • Sertoli cell only syndrome: SSCs which are believed to be lost听
  • Maturation arrest: SSCs division arrest after entry into meiosis听

It is believed that most forms of male infertility are yet to be known because of various genetic defects. Our laboratory is on the forefront of identifying such genetic reasons for male infertility, hoping that better understanding the biology of male infertility will allow us to further develop new diagnostic and therapeutic options for men with this condition.听

Key discoveries made in our laboratory:听

  • SSCs are present in men with severe forms of infertility听
  • For decades others believed that men who had Sertoli cell only syndrome lacked stem cells听
  • Our research showed that SSCs are present and increase in number because they are not able to divide further听
  • Abnormal levels of GDNF (molecule released from Sertoli cells) may be responsible for Sertoli cell only syndrome听
  • We are currently evaluating whether the delivery of GDNF will stimulate SSCs towards normal divisions and sperm production听
  • Small RNAs regulate spermatogenesis and prostate cancer key regulators of cell function and play a role in diagnosing different disorders听
  • We anticipate on starting a new clinical trial where we deliver small RNA to treat male infertility听

The lab is supported by two outstanding senior research associates: Anna Mielnik, M.Sc. and Alexander Bolyakov M.C.Sc.听

male infertility genetics laboratory associates 1

male infertility genetics laboratory associates 1