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      Congenital bilateral absence of the vas deferens (CBAVD) with bilaterally present seminal vesicles

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          Abstract

          Congenital bilateral absence of the vas deferens (CBAVD) is a rare obstructive anomaly contributing to male factor infertility. Various congenital anomalies associated with CBAVD involve the seminal vesicles and epididymis. Physical examinations are often not reliable. However, transrectal ultrasonography (TRUS) can distinguish seminal vesicle and epididymal anomalies. In this clinical report, a rare case of CBAVD without seminal vesical anomalies is presented. PE and TRUS revealed no remarkable findings. The patient underwent vaso-epididymal anastomosis for the seminal tract obstruction and was accidentally diagnosed with CBAVD. Although ultrasonography is a reliable approach, surgical methods are critical for the diagnosis of CBAVD.

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          Urogenital anomalies in men with congenital absence of the vas deferens.

          We evaluated urogenital anomalies in men with congenital absence of the vas deferens. A retrospective review was done of 104 subfertile men with congenital absence of the vas deferens (84 bilaterally and 20 unilaterally). Of men with unilateral or bilateral congenital absence of the vas deferens 26 and 11%, respectively, had renal agenesis. Of men with unilateral congenital absence of the vas deferens and infertility 80% had genitourinary anamalies affecting the contralateral testis. No man with congenital absence of the vas deferens and renal anomalies had cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations detected. Other urogenital anomalies are common for men with congenital absence of the vas deferens. CFTR gene mutations frequently contribute to maldevelopment of the vas deferens but vasal agenesis can occur without any evidence of CFTR defects. CFTR abnormalities are rarely detected in men with congenital absence of the vas deferens and renal anomalies.
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            Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling.

            To evaluate relationships between the phenotypic and genotypic characteristics of patients with congenital bilateral absence of the vas deferens (CBAVD). Retrospective study. A university hospital urology-andrology department. Forty-one men with CBAVD. CBAVD was diagnosed during surgical and/or ultrasound exploration of the vasa deferentia (VD) (n = 39), or on the basis of impalpable scrotal VD (n = 2). History, clinical and seminal characteristics, and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations including IVS-8 polyT analysis. A palpable scrotal vas deferens was present as a fibrous cord or nonpermeable duct in 13% of patients undergoing surgical exploration. Seminal vesicles were bilaterally absent in 28% of patients. No CFTR gene mutation or 5T allele was detected in 24.5% of the patients. Two CBAVD patients with renal agenesis carried a CFTR gene mutation (DeltaF508/5T-9T and R117G/7T-9T). CBAVD patients who have both a semen volume of < or =1.0 mL and a semen pH of < 7.0 have a significantly higher risk of severe CFTR gene mutation (OR = 9.12 [95% CI = 1.81-49.50]). A palpable scrotal vas deferens was found in 13% of CBAVD patients. Semen volume of < or =1.0 mL and semen pH of < 7.0 in CBAVD patients were associated with a higher risk of severe CFTR gene mutations. Patients with CBAVD and renal agenesis should be screened for CFTR gene mutations before assisted reproductive techniques are used.
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              Congenital bilateral absence of the vas deferens: the impact of spermatogenesis quality on intracytoplasmic sperm injection outcomes in 108 men

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                Author and article information

                Contributors
                Journal
                Urol Case Rep
                Urol Case Rep
                Urology Case Reports
                Elsevier
                2214-4420
                10 March 2020
                July 2020
                10 March 2020
                : 31
                Affiliations
                Urology Department of Urology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, No.100, Tzyou 1st Road Kaohsiung 807, TW 807, Kaohsiung, Taiwan
                Author notes
                []Corresponding author. sculptor39@ 123456yahoo.com.tw
                Article
                S2214-4420(20)30019-X 101131
                10.1016/j.eucr.2020.101131
                7110320
                © 2020 Published by Elsevier Inc.

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                Categories
                Andrology and Fertility

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