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- W1598602735 abstract "In the patients of congenital bilateral absence of vas deferens (CBAVD), part of them is caused by CFTR gene mutation, and related to the cystic fibrosis (CF). The CFTR gene mutation affected the mucosa of bronchial and pancreatic duct, which induced oversecretion of the mucosa and then obstructed the duct. Patients of CF are usually died at their young age with the bronchial and pancreatic duct obstruction which superimposed with Pseudomonas infection. Why the CFTR mutation only affected the male vas deferens (VD) (genital duct) with an unique pathological picture of segmental absence or agenesis?In our previous study, we found the CFTR mutation of Taiwanese CBAVD patients is different from that of caucassian CBAVD, with ethnic difference. However, the severity of the CFTR mutation is not totally related to the absence of the VD. It is one of the evidence the CFTR mutation is not the only mechanism for the pathogenesis of CAVD. Recently, we use the magnetic resonance imaging (MRI) to detect the seminal vesicle (SV) and intra-abdominal VD for the patients of CAVD. Based on our results, patients with CAVD may have a variable lose of the abdominal portion of the VD and seminal vesicle. A similar broad spectrum of SV abnormalities in CBAVD patients was also reported in an autopsy study of CF patients. Another report showed normal genital tract in CF neonates and in CF infants in the first month of life. In the animal study, the absence or dysfunction of CFTR may have resulted in a VD of mutant adult CFTR mice with a differentiated epithelium but a collapsed lumen. This mechanism is very similar to pancreatic duct or bronchial duct obstruction of patients with CF, however, differs from the mechanism of ”congenital agenesis” of the VD of patients with CAVD. All of the variable anomalies of CAVD patients may also derived from different embryonic maldevelopment and affected by the different genetic mechanism." @default.
- W1598602735 created "2016-06-24" @default.
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- W1598602735 date "2010-09-30" @default.
- W1598602735 modified "2023-09-23" @default.
- W1598602735 title "The Myth of the Congenital Absence of the Vas Deferens" @default.
- W1598602735 hasPublicationYear "2010" @default.
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