The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data.

CFTR Mutations in Congenital Absence of Vas Deferens

A qualitative diagnosis of infertility requires attention to female and male physical abnormalities, endocrine anomalies and genetic conditions that interfere with reproduction. Many genes are likely to be involved in the complex process of reproduction. Cystic fibrosis (CF) incidence varies in different White people populations (a higher incidence of CF is observed in northern–western European...

O-48: Heterogenous Spectrum of CFTR GeneMutations in Indian Patients with CongenitalAbsence of Vas Deferens

Background: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. Materials and Methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at t...

Potential role of cystic fibrosis genetic modifier factors in congenital bilateral absence of the vas deferens

Genetic findings in a child with deferential abnormalities. From surgery to clinical genetics

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.

P-192: The Study of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Polymorphisms in Iranian Patients with Mayer Rokitansky Kuster Hauser Syndrome

Background: Mayer - Rokitansky - Kuster - Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. Congenital anomaly of the female genital tract, estimated to occur in approximately 1 in every 5,000 females. It is caused by a failure of deve...