Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens
نویسندگان
چکیده
منابع مشابه
CFTR Mutations in Congenital Absence of Vas Deferens
A qualitative diagnosis of infertility requires attention to female and male physical abnormalities, endocrine anomalies and genetic conditions that interfere with reproduction. Many genes are likely to be involved in the complex process of reproduction. Cystic fibrosis (CF) incidence varies in different White people populations (a higher incidence of CF is observed in northern–western European...
متن کاملMutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.
BACKGROUND Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) can cause congenital bilateral absence of the vas deferens (CBAVD) as a primarily genital form of cystic fibrosis. The spectrum and frequency of CFTR mutations in Turkish males with CBAVD is largely unknown. METHODS We investigated 51 Turkish males who had been diagnosed with CBAVD at the Hacettepe Universi...
متن کاملThe genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis.
Congenital bilateral absence of the vas deferens (CBAVD) has long been thought to be a rare and distinct clinical and genetic entity. However, it occurs in 1-2% of the infertile male population (Jequier et al, 1985). Recently, this disorder has been shown to represent a mild (reproductive) form of cystic fibrosis (CF) (Anguiano et al, 1992). This finding mandates that proper genetic counseling ...
متن کامل[Congenital unilateral absence of the vas deferens].
A 10-year-old boy with cystic fibrosis (CF) (DeltaF508/G551D mutation) underwent an uneventful elective interval laparoscopic appendectomy. During routine laparoscopic inspection of the abdomen and groins, congenital bilateral absence of the vas deferens was noted. Pictures of the patient's internal inguinal ring noted at time of laparoscopy are presented and compared with a similar-aged patien...
متن کاملGene copy number variations in Asian patients with congenital bilateral absence of the vas deferens.
BACKGROUND Congenital bilateral absence of the vas deferens (CBAVD) is a distinct clinical entity accounting for approximately 25% of obstructive azoospermia in infertile men. The association between CBAVD and mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles is well demonstrated in Caucasians, but the identity of CBAVD-susceptibility genes remains elusive in Asians. We...
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ژورنال
عنوان ژورنال: International Journal of Andrology
سال: 2001
ISSN: 0105-6263,1365-2605
DOI: 10.1046/j.1365-2605.2001.00269.x