ESR1 HINGE REGION VARIANT IN A PATIENT WITH UNEXPLAINED INFERTILITY

Abstract

Estrogen is vital to human reproduction and acts primarily through two receptors: estrogen receptor alpha (ERα, encoded by ESR1) and estrogen receptor beta (ERβ, encoded by ESR2). Severe ESR1 variants lead to complete estrogen insensitivity and abnormal pubertal development, as evidenced by an ESR1 homozygous missense variant (p.Glu375His) in the ERα ligand-binding domain (LBD) with decreased estrogen response. We performed whole exome sequencing on 200 females with unexplained infertility to evaluate the potential role of ESR1 variants in this population.