Congenital absence of the vas deferens: Cystic fibrosis transmembrane regulatory gene mutations. Issue 6 (December 2020)

• Record Type: Journal Article
• Authors: Wong, Rachel; Gu, Kaien; Ko, Yool; Patel, Premal
• Is Part Of: Best practice & research. Volume 34:Issue 6(2020)
• Publication Date: 2020-12
• Subjects: cystic fibrosis -- congenital absence of the vas deferens -- infertility -- azoospermia; Endocrine glands -- Diseases -- Periodicals; Metabolism -- Disorders -- Periodicals; Endocrinology -- Periodicals; Metabolism -- Periodicals; 616.4
• DOI: 10.1016/j.beem.2020.101476
• Languages: English
• ISSNs: 1521-690X

Abstract

Abstract : Congenital absence of the vas deferens (CAVD) is a rare genetic condition first discovered in the mid-18th century related to mutations in the cystic fibrosis transmembrane regulatory genes. The condition is typically found during work-up of male infertility, and the majority of cases can be diagnosed with complete history and physical examination and pertinent investigations. The condition can be separated into three subcategories, and genetic advances have led to a much better understanding behind the disease, its pathogenesis, and options for treatment. In this review, we discuss the genetics, pathogenesis, embryology, and diagnosis of treatment of CAVD. Future work in this area likely will aim to better understand the epigenetic factors that influence the development of the condition in order to identify potential upstream therapeutic targets.