The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland

1997 ◽  
Vol 79 (1) ◽  
pp. 74-77 ◽  
Author(s):  
R. Donat ◽  
A.S. McNeill ◽  
D.R. FitzPatrick ◽  
T.B. Hargreave
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Cystic Fibrosis Gene ◽  
Bilateral Absence

CONGENITAL ABSENCE OF THE VAS DEFERENS: INCOMPLETE PENETRANCE OF CYSTIC FIBROSIS GENE MUTATIONS

1997 ◽  
Vol 158 (5) ◽  
pp. 1794-1799 ◽  
Author(s):  
David Shin ◽  
Fred Gilbert ◽  
Marc Goldstein ◽  
Peter N. Schlegel
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Congenital Absence ◽  
Cystic Fibrosis Gene ◽  
Incomplete Penetrance

scholarly journals R-096. Cystic fibrosis gene mutations do not affect ICSI outcome in men with congenital absence of the vas deferens

1997 ◽  
Vol 12 (Suppl_2) ◽  
pp. 277-278
Author(s):  
J.L.I. Romero ◽  
Y. Mínguez ◽  
C. Rubio ◽  
A. Ruiz ◽  
M.D. Molero ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Congenital Absence ◽  
Cystic Fibrosis Gene

Cystic fibrosis and reproduction

1998 ◽  
Vol 10 (1) ◽  
pp. 113 ◽  
Author(s):  
Greg Phillipson
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Nutritional Deficiencies ◽  
Mild Phenotype ◽  
Bilateral Absence ◽  
Maternal Morbidity And Mortality ◽  
The 1960S ◽  
Almost All

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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