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.

P N Schlegel, D Shin, M GOLDSTEIN (1996)

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.

Myriam Daudin, Eric Bieth, Louis Bujan … (2000)

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.

M A Llabador, A Pagin, C Lefebvre-Maunoury … (2015)

In azoospermic men with congenital bilateral absence of the vas deferens (CBAVD), it is not known whether the outcomes of intracytoplasmic sperm injection (ICSI) depend on the quality of testicular spermatogenesis (as determined histopathologically). We retrospectively studied the impact of spermatogenesis quality on ICSI outcomes in 108 azoospermic men with CBAVD consulting in a university hospital's department of andrology and reproductive biology. As part of an ICSI program, sperm samples were obtained from the epididymis [by microsurgical epididymal sperm aspiration (MESA); n = 47] or the testis [by testicular sperm extraction (TESE); n = 14] or both (MESA + TESE, n = 47). In the TESE group (i.e., TESE-only and MESA + TESE), spermatogenesis was normal in 21 of the 108 men (19.4%) and hypospermatogenesis occurred in 33 (30.5%). The fertilization rate was significantly lower in the hypospermatogenic group than in the normospermatogenesis group (65.6 and 72.9%, respectively; p = 0.02); this was also true for the embryo cleavage rate (88.6 and 92.1%, respectively; p = 0.007), and the proportion of embryos with fewer than 30% of enucleate fragments (79.5 and 86.9%, respectively; p = 0.02). Our study results showed that impaired spermatogenesis had a negative impact on certain early-stage biological outcomes of ICSI. In CBAVD, male factors are likely to exert a harmful effect on the early stages of embryo development.

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Author and article information

Contributors

Chun-Hsuan Lin

Tsung-Yi Huang

Journal

Journal ID (nlm-ta): Urol Case Rep

Journal ID (iso-abbrev): Urol Case Rep

Title: Urology Case Reports

Publisher: Elsevier

ISSN (Electronic): 2214-4420

Publication date PMC-release: 10 March 2020

Publication date Collection: July 2020

Publication date (Electronic): 10 March 2020

Volume: 31

Electronic Location Identifier: 101131

Affiliations

[1]Urology Department of Urology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, No.100, Tzyou 1st Road Kaohsiung 807, TW 807, Kaohsiung, Taiwan

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[∗ ]Corresponding author. sculptor39@ 123456yahoo.com.tw

Article

Publisher ID: S2214-4420(20)30019-X Publisher ID: 101131

DOI: 10.1016/j.eucr.2020.101131

PMC ID: 7110320

SO-VID: 7bcd6a36-1ff9-4a5d-b23a-a3c26fd18894

License:

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

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

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Bacterial extracellular vesicles

Most cited references 4

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

Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling.

Congenital bilateral absence of the vas deferens: the impact of spermatogenesis quality on intracytoplasmic sperm injection outcomes in 108 men.

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