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Published on: April 11, 2018
Infertility and abnormal cervical mucus in two sisters who are compound heterozygotes for the cystic fibrosis (CF)
Katherine D Schoyer1, Fred Gilbert, Zev Rosenwaks
1The Center for Reproductive Medicine and Infertility, Weill Cornell Medical College, New York, New York 10021, USA.
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.
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