Infertility and abnormal cervical mucus in two sisters who are compound heterozygotes for the cystic fibrosis (CF) DeltaF508 and R117H/7T mutations.

Overview

OBJECTIVE: To describe two cases of infertile sisters who are compound heterozygote carriers of the cystic fibrosis (CF) DeltaF508 and R117H/7T mutations and who were found to have significantly abnormal cervical mucus. DESIGN: Case reports and review of literature. SETTING: Infertility practice based in an academic medical center. PATIENT(S): Two sisters (ages 34 and 42), compound heterozygote carriers of CF mutations, who presented with involuntary infertility. INTERVENTION(S): The partners of both patients tested negative for CF. The evaluation of both sisters did not indicate other causes of infertility aside from advanced maternal age in the 42-year-old patient. Both sisters underwent natural-cycle intrauterine insemination. MAIN OUTCOME MEASURE(S): Pregnancy conception. RESULT(S): The 34-year-old patient has subsequently conceived twice through natural-cycle inseminations. CONCLUSION(S): This is the first reported case of infertility due to a cervical mucus factor in a patient who is a compound heterozygote of the DeltaF508 and R117H/7T mutations. This case is important not only because of the distinct phenotypic abnormality seen with specific CF mutations but also because of the associated genotype.