Cystic fibrosis and fertility

Abstract

Mutations in the CF Transmembrane Conductance Regulator (CFTR) gene affect both male and female fertility; however, not all CFTR mutations appear to cause infertility. Although most men with CF have significant anatomical abnormalities of the reproductive tract causing infertility, most women with CF have anatomically normal reproductive tracts and up to half may be able to conceive spontaneously. Less is known about how CF affects female fertility or the treatment options available.

Female cystic fibrosis mutation carriers and assisted reproductive technology: does carrier status affect reproductive outcomes?

“…Type I, II, and III mutations cause a loss in protein function and increased disease severity, while type IV and V mutations only reduce protein function, resulting in milder disease states (60). Many combinations of different types of mutations are possible, causing a wide heterogeneity in the symptoms of affected patients (59).…”

Physiological Aspects of Female Fertility: Role of the Environment, Modern Lifestyle, and Genetics

“…Cystic fibrosis (CF) is a condition characterized by abnormal mucus secretion due to being homozygous, or a compound heterozygote, for one of the Ͼ1,900 mutations in the CF transmembrane regulator gene, limiting chloride and bicarbonate secretion (3). In addition to the associated symptoms of ovulatory disorder relating to poor general health and low body fat levels, CF is associated with female subfertility due to a direct effect on the epithelial cells of the reproductive tract, although not directly on cilial action.…”

State of Family Planning

“…Evidence shows that these women have fecundability rates similar to their healthy peers. 67,68 Although all women who undergo pregnancy are at risk for adverse events, pregnancy in women with chronic medical conditions could have significant consequences. [69][70][71][72] These women have an increased risk of morbidity and mortality and often have exacerbation of disease status.…”