Cystic fibrosis and reproduction

Abstract

Cystic fibrosis (CF) is the most common autosomal recessive disease. CF andcongenital bilateral absence of the vas deferens (CBAVD) share a genetic andembryological background. Since the 1960s, medical therapy to reduce theprogressive obstructive lung disease and nutritional deficiencies has resultedin most CF patients reaching adulthood. With the improved life expectancy ofCF patients, new issues in reproductive health and pregnancy management havearisen. Puberty is delayed, with menarche often occurring eighteen monthslater than the average. Almost all men with CF are azoospermic. In both CF andCBAVD, the vas deferens is absent and the seminal vesicles are oftenhypoplastic. Many women with CF are subfertile, and if pregnancy is achievedthere is an observed increase in maternal morbidity and mortality. Theunderstanding of the molecular basis of CF and CBAVD has evolved, with theidentification of hundreds of CF gene mutations and discovery of an associatedintron polymorphism of the CF gene. The concept of severe and mild mutationshas been introduced to explain the severe and mild phenotype variations suchas the pancreatic insufficient and pancreatic sufficient patient. This paperreviews the above issues to assist with the management of infertile coupleswith CF or CBAVD.