FUMARASE DEFICIENCY CARRIERS AND ITS EFFECT ON INFERTILITY

Abstract

Fumarase deficiency (FD) is an autosomal recessive condition characterized by severe neurologic abnormalities due to homozygous pathogenic variants in the fumarate hydratase (FH) gene. Heterozygous carriers of FH mutations have an increased risk of developing uterine leiomyomas. There is limited data regarding the infertility diagnoses and treatment outcomes of patients with FH mutations. Therefore, the objective of our study was to characterize the incidence, infertility diagnoses, treatments, and outcomes of women presenting to our fertility center who were found to be carriers of FH mutations.