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  • Title: Cystic fibrosis and reproduction.
    Author: Phillipson G.
    Journal: Reprod Fertil Dev; 1998; 10(1):113-9. PubMed ID: 9727601.
    Abstract:
    Cystic fibrosis (CF) is the most common autosomal recessive disease. CF and congenital bilateral absence of the vas deferens (CBAVD) share a genetic and embryological background. Since the 1960s, medical therapy to reduce the progressive obstructive lung disease and nutritional deficiencies has resulted in most CF patients reaching adulthood. With the improved life expectancy of CF patients, new issues in reproductive health and pregnancy management have arisen. Puberty is delayed, with menarche often occurring eighteen months later than the average. Almost all men with CF are azoospermic. In both CF and CBAVD, the vas deferens is absent and the seminal vesicles are often hypoplastic. Many women with CF are subfertile, and if pregnancy is achieved there is an observed increase in maternal morbidity and mortality. The understanding of the molecular basis of CF and CBAVD has evolved, with the identification of hundreds of CF gene mutations and discovery of an associated intron polymorphism of the CF gene. The concept of severe and mild mutations has been introduced to explain the severe and mild phenotype variations such as the pancreatic insufficient and pancreatic sufficient patient. This paper reviews the above issues to assist with the management of infertile couples with CF or CBAVD.
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