CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS

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CFTR Mutations in Congenital Absence of Vas Deferens

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[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...

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Ultrasonography in Diagnosis of Congenital Absence of the Vas Deferens

BACKGROUND Congenital absence of the vas deferens is an important cause of obstructive azoospermia, and the lack of an imaging diagnostic test is a critical problem. The aim of this study is to discuss the use of ultrasonography in congenital absence of vas deferens, including dysplasia of the epididymis and the seminal vesical. MATERIAL AND METHODS Five fresh spermatic cord specimens were dete...

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Mutations 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...

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Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G ...

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ژورنال

عنوان ژورنال: The Japanese Journal of Urology

سال: 1957

ISSN: 0021-5287,1884-7110

DOI: 10.5980/jpnjurol1928.48.2_121