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Preimplantation Genetic Testing and Reproductive Genetics from a Physician's Perspective
Published in Darren K. Griffin, Gary L. Harton, Preimplantation Genetic Testing, 2020
Besides its application for excluding the risk of cystic fibrosis being passed to the next generation, CFTR gene testing is also important in the diagnosis of male infertility. Mutations can cause congenital absence of the vas deferens (bi- or unilateral), bilateral obstruction of the ductus ejaculatorius, or bilateral obstruction of the ductus epididymis. All men with idiopathic obstructive azoospermia should thus have their CFTR gene examined.
Azoospermia
Published in Botros Rizk, Ashok Agarwal, Edmund S. Sabanegh, Male Infertility in Reproductive Medicine, 2019
Medhat Amer, Emad Fakhry, Botros Rizk
Bilateral ejaculatory duct obstruction and congenital absence of the vas deferens would result in small volume ejaculate that should be differentiated from ejaculatory dysfunction, which results in failure of emission and semen expulsion outside the urethral opening (aspermia) as in retrograde ejaculation (diabetic, pharmacological, or surgical sympathectomy) or spinal cord injury cases.
Investigations in infertility
Published in David J Cahill, Practical Patient Management in Reproductive Medicine, 2019
When commencing investigations of infertility, consider the main diagnostic categories and work through those simultaneously. Bear in mind that common things occur commonly (polycystic ovary syndrome and Chlamydia damage do occur commonly, but azoospermia and congenital absence of the vas deferens do not), but the patient's history will almost always give you, the clinician, what you need to direct you. The investigations in Table 3.1 will provide you with a firm basis for starting the process, and I would expect that they will be sufficient for 97% of patients you encounter.
Incidental finding of a congenital unilateral absence of the vas deferens during robotic inguinal hernia repair: missing a crucial landmark. A case report
Published in Acta Chirurgica Belgica, 2023
Kim Pauwaert, Filip Muysoms, Maxime Dewulf
During inguinal hernia repair a clear understanding of the anatomy, including the identification of the vas deferens (VD), is a crucial step to perform a safe dissection and obtain a critical view of the myopectineal orifice (MPO) (Figure 1) [1]. A congenital absence of the vas deferens (CAVD) is a rare condition, and has been described in up to 1% of the inguinal hernia repairs in children [2]. To our knowledge, this has only recently been described once as a finding during totally extraperitoneal preperitoneal (TEP) inguinal hernia repair in an adult patient [3]. We report on a second case of congenital unilateral atresia of the vas deferens (CUAVD) encountered during a robotic-assisted transabdominal preperitoneal (TAPP) inguinal hernia repair. Furthermore, we aim to provide a clear overview of relevant literature stressing its clinical relevance, and make recommendations on further investigations and management in case of an incidental finding of CAVD during inguinal hernia repair. This case report has been reported in line with the SCARE Criteria [4]. Patients consent was obtained for publications.
Emerging pharmacotherapies in cystic fibrosis
Published in Expert Review of Respiratory Medicine, 2018
Oliver J McElvaney, Cedric Gunaratnam, Oisin Fiachra McElvaney, Isha Bagwe, Emer P Reeves, Noel G McElvaney
While this review will focus primarily on new and emerging pharmacotherapeutic options for CF pulmonary disease, it is important to recognize the contribution of extrapulmonary manifestations such as pancreatic insufficiency (>90% of patients), CF-related diabetes mellitus, malabsorption syndrome with secondary osteoporosis, and CF hepatobiliary disease including focal biliary cirrhosis, gallstones, bile inspissation, and steatohepatitis to morbidity and mortality in these individuals. Furthermore, the impact of issues such as male subfertility due to congenital absence of the vas deferens, psychological and psychiatric issues related to the healthcare journey of a chronic disease, and the burden of polypharmacy on quality of life and overall well-being cannot be understated. This review of the literature was carried out using the MEDLINE database (up to July 2018), Google Scholar, and The Cochrane Library databases using several appropriate generic terms including CF, CFTR, potentiator, corrector, inflammation, infection, gene therapy, anti-inflammatory, mucolytic, and clinical trial.
Testing for genetic contributions to infertility: potential clinical impact
Published in Expert Review of Molecular Diagnostics, 2018
Csilla Krausz, Francesca Cioppi, Antoni Riera-Escamilla
The cystic fibrosis transmembrane conductance regulator (CFTR) gene, located on chromosome 7q31.2 and containing 27 exons [8,9], encodes a protein involved in chloride conduction across epithelial cell membranes. To date, more than 2000 variants have been identified in CFTR gene (http://www.genet.sickkids.on.ca/Home.html) and they can be classified in severe and mild mutations depending on their functional effect. The nature of mutations determines the disease severity, i.e. two severe mutations lead to the cystic fibrosis (CF) phenotype, whereas two mild mutations or one severe plus a mild mutation are responsible for congenital absence of the vas deferens (CAVD) [10].