Accepted for publication June 22, 2012. Study received institutional review board approval. * Correspondence: Androfert, Andrology and Human Reproduction Clinic, Center for Male Reproduction, Av. Dr. Heitor Penteado, 1464, Campinas, São Paulo 13075-460, Brazil (telephone: 55 19 3295-8877; FAX: 55 19 3294-6992; e-mail: [email protected]). Purpose: We evaluated the retrieval rates and re...

Although little is known about the role of the cystic fibrosis transmembrane regulator (CFTR) gene in reproductive physiology, numerous variants in this gene have been implicated in etiology of male infertility due to congenital bilateral absence of the vas deferens (CBAVD). Here, we studied the fertility effects of three CBAVD-associated CFTR polymorphisms, the (TG)m and polyT repeat polymorph...

Since the identification of the Cystic Fibrosis transmembrane conductance regulator (CFTR) gene in 1989, many genetic mutations have been found in cystic fibrosis (CF) patients. Dysfunctions of the CFTR gene are responsible for the highly variable clinical presentation ranging from severe CF, disseminated bronchiectasis, idiopathic chronic pancreatitis and congenital bilateral absence of vas de...

A male 14 months old had deferential abnormalities during orchidopexy. The genetic study demonstrate cystic fibrosis (∆F508 / ∆F508). A literature review of the genetic alterations observed in patients with congenital unilateral and bilateral absence of the vas deferens was underwent as well as the role of cystic fibrosis trans membrane conductance regulator gene on fertility.

Carlin, Ryan W., Rebecca R. Quesnell, Ling Zheng, Kathy E. Mitchell, and Bruce D. Schultz. Functional and molecular evidence for Na -HCO3 cotransporter in porcine vas deferens epithelia. Am J Physiol Cell Physiol 283: C1033–C1044, 2002. First published May 22, 2002; 10.1152/ ajpcell.00493.2001.—This study focused on the role of sodium-bicarbonate cotransporter (NBC1) in cAMP-stimulated ion tran...

BACKGROUND The 5T allele of the polyT tract located within intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is a variant that in trans with a severe CFTR mutation can result in normal phenotype, congenital bilateral absence of vas deferens (CBAVD), or mild cystic fibrosis. The 5T allele has been associated with the skipping of exon 9, a process that seems to be in...