Unexplained Female Infertility Associated with Genetic Disease Variants

Dougherty, Michael P. M.D.
Poch, Alexandra M. M.D.
Chorich, Lynn P. M.A.
Hawkins, Zoe A. B.S.
Xu, Hongyan Ph.D.
Roman, Robert A. M.D.
Liu, Haitao M.D.
Brakta, Soumia M.D.
Taylor, Hugh S. M.D.
Knight, James Ph.D.
Kim, Hyung-Goo Ph.D.
Diamond, Michael P. M.D.
Layman, Lawrence C. M.D.

¹Medical College of Georgia at Augusta University, Augusta, GA [email protected]
²Yale School of Medicine, New Haven, CT
³Hamad Bin Khalifa University, Doha, Qatar
⁴Medical College of Georgia at Augusta University, Augusta, GA

Data can be obtained by contacting the first author.

Supported by a grant (5410HD039005) from the National Institute of Child Health and Human Development (NICHD) of the National Institutes of Health (NIH) and the NIH/NICHD Cooperative Reproductive Medicine Network (to Drs. Diamond and Layman). Dr. Layman also supported by the Robert B. Greenblatt, M.D., distinguished chair endowment.

Disclosure forms provided by the authors are available with the full text of this letter at NEJM.org.

New England Journal of Medicine 388(11):p 1055-1056, March 16, 2023. | DOI: 10.1056/NEJMc2211539

Female Infertility and Genetic Disease

In this study, women with unexplained infertility were more likely than persons represented in biobanks to carry pathogenic or likely pathogenic variants in genes causing genetic diseases.