Genetics of the congenital absence of the vas deferens

• Published in: Human genetics Vol. 140; no. 1; pp. 59 - 76
• Main Authors: Bieth, Eric, Hamdi, Safouane M., Mieusset, Roger
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.01.2021; Springer; Springer Nature B.V
• Subjects: Animals; Azoospermia - genetics; Biomedical and Life Sciences; Biomedicine; Cystic fibrosis; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Degeneration; Diagnosis; Fetuses; Gene Function; Genetic aspects; Genetic counseling; Genetic disorders; Genetic screening; Human Genetics; Humans; Infertility; Male; Male Urogenital Diseases - genetics; Metabolic Diseases; Molecular genetics of male infertility; Molecular Medicine; Mutation; Mutation - genetics; Organogenesis; Receptors, G-Protein-Coupled - genetics; Review; Ultrasound; Vas deferens; Vas Deferens - abnormalities

Congenital absence of the vas deferens (CAVD) may have various clinical presentations depending on whether it is bilateral (CBAVD) or unilateral (CUAVD), complete or partial, and associated or not with other abnormalities of the male urogenital tract. CBAVD is usually discovered in adult men either...