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

• Published in: Fertility and sterility Vol. 90; no. 4; pp. 1201.e19 - 1201.e22
• Main Authors: Schoyer, Katherine D, Gilbert, Fred, Rosenwaks, Zev
• Format: Journal Article
• Language: English
• Published: United States 01.10.2008
• Subjects: Adult; Cervix Mucus - cytology; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Female; Fertilization in Vitro; Genetic Predisposition to Disease - genetics; Humans; Infertility, Female - genetics; Infertility, Female - pathology; Infertility, Female - therapy; Live Birth; Loss of Heterozygosity - genetics; Mutation; Pregnancy; Siblings; Treatment Outcome; Uterine Cervical Diseases - genetics; Uterine Cervical Diseases - pathology
• ISSN: 1556-5653
• DOI: 10.1016/j.fertnstert.2007.08.063

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. Case reports and review of literature. Infertility practice based in an academic medical center. Two sisters (ages 34 and 42), compound heterozygote carriers of CF mutations, who presented with involuntary infertility. 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. Pregnancy conception. The 34-year-old patient has subsequently conceived twice through natural-cycle inseminations. 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.