Semin Reprod Med 2017; 35(03): 217-224
DOI: 10.1055/s-0037-1603095
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Female Genomics: Infertility and Overall Health

Nikhil Joshi1, Jessica L. Chan1
  • 1Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, California
Further Information

Publication History

Publication Date:
28 June 2017 (online)


Female infertility is a complex disease linked to multiple etiologies including genetic factors. Owing to the multifactorial nature of infertility, it is often difficult to identify single causative genes. Despite this challenge, investigations into the genetic causes of infertility have been performed to shed light on the etiology and for the possibility of developing personalized medical approaches to therapy. Multiple techniques have been utilized to better characterize the genetic origins of this disease, including genome-wide association studies. We present here a review of the genetic causes of female infertility, detailing some of the more recent findings in the genetics of polycystic ovary syndrome, endometriosis, primary ovarian insufficiency, hypothalamic amenorrhea, leiomyomas, and Mullerian anomalies.