نتایج جستجو برای: congenital bilateral absence of vas deferens cbavd

تعداد نتایج: 21192810  

Journal: :Nagoya journal of medical science 1996
M Yamamoto H Hibi K Miyake T Kitagawa Y Asada N Suganuma Y Tomoda

To investigate whether the variable length of the epididymis in men with congenital bilateral absence of the vas deferens (CBAVD) might have a correlation with fertilization and pregnancy rates in in vitro fertilization (IVF) treatment, we conducted a retrospective study involving a total of 60 CBAVD patients. All patients in this study had epididymal micropuncture in conjunction with perivascu...

Journal: :Human reproduction 1999
G R Dohle H J Veeze S E Overbeek A M van den Ouweland D J Halley R F Weber M F Niermeijer

Congenital bilateral absence of the vas deferens (CBAVD) is found in 1-2% of infertile males and in most male cystic fibrosis (CF) patients. CF and some of the CBAVD cases were found to share the same genetic background. In this study, 21 males with CBAVD had extensive physical and laboratory testing for symptoms of CF. Possible defective cellular chloride transport was measured by interstitial...

Journal: :Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2011
C Bombieri M Claustres K De Boeck N Derichs J Dodge E Girodon I Sermet M Schwarz M Tzetis M Wilschanski C Bareil D Bilton C Castellani H Cuppens G R Cutting P Drevínek P Farrell J S Elborn K Jarvi B Kerem E Kerem M Knowles M Macek A Munck D Radojkovic M Seia D N Sheppard K W Southern M Stuhrmann E Tullis J Zielenski P F Pignatti C Ferec

Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a proposal for consensus guidelines on cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (CFTR-RDs), reached after expert discussion and two dedicated workshops. A CFTR-RD may be defined as "a clinical entity associated with CFT...

2017
Alobaidi Salwan Alhmooze Abdelrahman

INTRODUCTION Congenital absence of the vas deferens (CUAVD) is a rare clinical entity, usually discovered accidently during surgical procedures of the urogenital zone, CUAVD has the prevalence of 0.5-1.0% in male population and it is associated with various forms of congenital genitourinary malformations like renal agenesis. we present a case of a 21 years old, male, managed in our private hosp...

Journal: :Nagoya journal of medical science 1996
M Yamamoto H Hibi K Miyake

Antisperm antibodies are one of the important factors in male infertility caused by vasal obstructions. To investigate the incidence of serum antisperm antibodies in patients with various kinds of seminal tract obstructions, we retrospectively analyzed the sera of 60 patients using the indirect immunobead test (IBT) to find serum antisperm antibodies. Immunoglobulin (Ig)G and IgA class antisper...

Journal: :The New England journal of medicine 1995
M Chillón T Casals B Mercier L Bassas W Lissens S Silber M C Romey J Ruiz-Romero C Verlingue M Claustres

BACKGROUND Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely understood. Although patients with cystic fibrosis have mutations in both copies of the CFTR gene, most patients with CBAVD have mutations i...

Journal: :Human reproduction 2007
Ilham Ratbi Marie Legendre Florence Niel Josiane Martin Jean-Claude Soufir Vincent Izard Bruno Costes Catherine Costa Michel Goossens Emmanuelle Girodon

BACKGROUND Mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene have been widely detected in infertile men with congenital bilateral absence of the vas deferens (CBAVD). Despite extensive analysis of the CFTR gene using varied screening methods, a number of cases remain unsolved and could be attributable to the presence of large gene rearrangements, as recently ...

Journal: :Clinical chemistry 2008
Catherine Costa Jean-Marc Costa Josiane Martin Brigitte Boissier Michel Goossens Emmanuelle Girodon

BACKGROUND Precise genotyping of the intron 8 poly(TG) and poly(T) tracts of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is of clinical relevance in CFTR pathology. The (TG)(m) locus influences the penetrance of the (T)(5) allele, which may be associated with male infertility by congenital bilateral absence of the vas deferens (CBAVD) or other CFTR-related disorders (CFT...

Journal: :Molecular human reproduction 1998
E Kanavakis M Tzetis T Antoniadi G Pistofidis S Milligos C Kattamis

Congenital bilateral absence of the vas deferens (CBAVD) found in otherwise healthy infertile males, is associated with a high incidence of mutated cystic fibrosis transmembrane conductance regulator (CFTR) alleles, and is considered a genital form of cystic fibrosis (CF). The CF gene may also be involved in the aetiology of male infertility in cases other than CBAVD. The present study was unde...

Journal: :Human reproduction 2005
Chien-Chih Wu Ozgül M Alper Jyh-Feng Lu Song-Ping Wang Li Guo Han-Sun Chiang Lee-Jun C Wong

BACKGROUND Clinically affected cystic fibrosis (CF) patients present a spectrum of genital phenotypes ranging from normal fertility to moderately impaired spermatogenesis and congenital bilateral absence of vas deferens (CBAVD). Little is known about the CF incidence in the Taiwanese population. It has been shown that the CBAVD in men without clinical evidence of CF is associated with a high in...

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