Research & Literature

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

Girardet A, Viart V, Plaza S, et al.

European journal of human genetics : EJHG 2016; (24(4)):469-78 doi:10.1038/ejhg.2015.99.

Relationship of paternal age with outcome of percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection, in cases of congenital bilateral absence of the vas deferens.

Elhanbly S, El-Saied MA, Fawzy M, et al.

Fertility and sterility 2015; (104(3)):602-6.

Percutaneous epididymal sperm aspiration as a method for sperm retrieval in men with obstructive azoospermia seeking fertility: operative and laboratory aspects.

Esteves SC

International braz j urol : official journal of the Brazilian Society of Urology 2015; (41(4)):817; discussion 818 doi:10.1590/S1677-5538.IBJU.2015.0064.

Ectopic Vas Deferens Inserting Into Distal Retroiliac Ureter in the Currarino Syndrome.

Alonso V, Perez S, Barrero R, Garcia-Merino F

Urology 2016; (98()):167-169 doi:10.1016/j.urology.2016.05.020.

Ultrasonography in Diagnosis of Congenital Absence of the Vas Deferens.

Li L, Liang C

Medical science monitor : international medical journal of experimental and clinical research 2016; (22()):2643-7 doi:10.12659/msm.898109.

Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype.

Sosnay PR, Raraigh KS, Gibson RL

Pediatric clinics of North America 2016; (63(4)):585-98.

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.

Patat O, Pagin A, Siegfried A, et al.

American journal of human genetics 2016; (99(2)):437-42.

Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.

Gajbhiye R, Kadam K, Khole A, et al.

The Indian journal of medical research 2016; (143(5)):616-23 doi:10.4103/0971-5916.187110.

Azoospermic patient's treatment: An experience of a PMA hospital unit and role of ultrasonography.

Panella P, Pepe P, Borzì P, et al.

Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica 2016; (88(4)):314-316 doi:10.4081/aiua.2016.4.314.

Congenital absence of vas deferens and ectopic kidney.

Salwan A, Abdelrahman A

International journal of surgery case reports 2017; (34()):90-92 doi:10.1016/j.ijscr.2017.03.019.

Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice.

Wang YY, Lin YH, Wu YN, et al.

PLoS genetics 2017; (13(4)):e1006715 doi:10.1371/journal.pgen.1006715.

Scrotal Ultrasonic Features of Congenital Bilateral Absence of Vas Deferens.

Liu J, Wang Z, Zhou M, et al.

Ultrasound quarterly 2017; (33(2)):153-156 doi:10.1097/RUQ.0000000000000278.

Unilateral Complete Agenesis of Mesonephric Duct Derivatives in an 82-year-Old Male Cadaver: Embryology, Anatomy and Clinical Considerations.

Darcy DG, Yao-Cohen M, Olson TR, Downie SA

Urology case reports 2017; (15()):20-22 doi:10.1016/j.eucr.2017.06.003.

A step-by-step guide to office-based sperm retrieval for obstructive azoospermia.

Coward RM, Mills JN

Translational andrology and urology 2017; (6(4)):730-744 doi:10.21037/tau.2017.07.15.

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

de Souza DAS, Faucz FR, Pereira-Ferrari L, et al.

Andrology 2018; (6(1)):127-135 doi:10.1111/andr.12450.

Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion.

,

Fertility and sterility 2018; (109(6)):989-992 doi:10.1016/j.fertnstert.2018.04.003.

[Microsurgical management of obstructive azoospermia: Progress and prospects].

Li P, Li Z, Li PS

Zhonghua nan ke xue = National journal of andrology 2018; (24(7)):579-288.

Zinner syndrome presenting with intermittent scrotal pain in a young man.

Florim S, Oliveira V, Rocha D

Radiology case reports 2018; (13(6)):1224-1227 doi:10.1016/j.radcr.2018.08.012.

Vasovasostomy and vasoepididymostomy: Review of the procedures, outcomes, and predictors of patency and pregnancy over the last decade.

Namekawa T, Imamoto T, Kato M, et al.

Reproductive medicine and biology 2018; (17(4)):343-355 doi:10.1002/rmb2.12207.

Non-obstructive vas deferens and epididymis loss in cystic fibrosis rats.

Plyler ZE, Birket SE, Schultz BD, et al.

Mechanisms of development 2019; (155()):15-26 doi:10.1016/j.mod.2018.10.002.

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees.

Yang B, Wang X, Zhang W, et al.

Molecular genetics & genomic medicine 2018; (6(6)):1097-1103 doi:10.1002/mgg3.486.

SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens.

Wu YN, Chen KC, Wu CC, et al.

BioMed research international 2019; (2019()):3562719 doi:10.1155/2019/3562719.

Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.

Yeh JT, Hwang TC

The Journal of physiology 2020; (598(3)):517-541 doi:10.1113/JP278418.

Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.

Pagin A, Bergougnoux A, Girodon E, et al.

Andrology 2020; (8(3)):618-624 doi:10.1111/andr.12744.

Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non-azoospermic.

Mieusset R, Bieth E, Daudin M, et al.

Andrology 2020; (8(3)):645-653 doi:10.1111/andr.12749.

High-resolution imaging of the actin cytoskeleton and epithelial sodium channel, CFTR, and aquaporin-9 localization in the vas deferens.

Sharma S, Kumaran GK, Hanukoglu I

Molecular reproduction and development 2020; (87(2)):305-319 doi:10.1002/mrd.23317.

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens.

Wang H, An M, Liu Y, et al.

Andrology 2020; (8(5)):1064-1069 doi:10.1111/andr.12769.

Genetics of the congenital absence of the vas deferens.

Bieth E, Hamdi SM, Mieusset R

Human genetics 2021; (140(1)):59-76 doi:10.1007/s00439-020-02122-w.

Congenital bilateral absence of the vas deferens (CBAVD) with bilaterally present seminal vesicles.

Lin CH, Huang TY

Urology case reports 2020; (31()):101131 doi:10.1016/j.eucr.2020.101131.

Sperm Extraction in Obstructive Azoospermia: What's Next?

Akerman JP, Hayon S, Coward RM

The Urologic clinics of North America 2020; (47(2)):147-155 doi:10.1016/j.ucl.2019.12.003.

Commentary on: A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.

Oates RD

Journal of assisted reproduction and genetics 2020; (37(6)):1327-1328 doi:10.1007/s10815-020-01834-2.

Sperm retrieval and intracytoplasmic sperm injection outcomes in men with cystic fibrosis disease versus congenital bilateral absence of the vas deferens.

McBride JA, Kohn TP, Mazur DJ, et al.

Asian journal of andrology 2021; (23(2)):140-145 doi:10.4103/aja.aja_48_20.

Epididymal Appearance in Congenital Absence of Vas Deferens.

Gokhale S, Kochhar K

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2021; (40(6)):1085-1090 doi:10.1002/jum.15500.

Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review).

Cui X, Wu X, Li Q, Jing X

Molecular medicine reports 2020; (22(5)):3587-3596 doi:10.3892/mmr.2020.11456.

Utilization of preimplantation genetic testing for monogenic disorders.

Lee I, Alur-Gupta S, Gallop R, Dokras A

Fertility and sterility 2020; (114(4)):854-860 doi:10.1016/j.fertnstert.2020.05.045.

Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men.

Fedder J, Jørgensen MW, Engvad B

Andrology 2021; (9(2)):588-598 doi:10.1111/andr.12925.

Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.

Rudnik-Schöneborn S, Messner M, Vockel M, et al.

Human reproduction (Oxford, England) 2021; (36(3)):551-559 doi:10.1093/humrep/deaa348.

Genetics of CFTR and male infertility.

Bieniek JM, Lapin CD, Jarvi KA

Translational andrology and urology 2021; (10(3)):1391-1400 doi:10.21037/tau.2020.04.05.

How do we counsel men with obstructive azoospermia due to CF mutations?-a review of treatment options and outcomes.

Persily JB, Vijay V, Najari BB

Translational andrology and urology 2021; (10(3)):1467-1478 doi:10.21037/tau-19-681.

A cross-sectional study of the genital duct and renal anomalies in Egyptian cases of congenital absence of the vas deferens.

AbdElnaser T, Elkhiat YI, El-Azizi HM, et al.

Human fertility (Cambridge, England) 2022; (25(4)):738-744 doi:10.1080/14647273.2021.1918352.

Does acquired obstructive azoospermia have less impact than congenital azoospermia on ICSI results? Systematic review and meta-analysis.

Lopes LS, Baccaglini W, von Muhlen B, et al.

Andrologia 2021; (53(7)):e14096 doi:10.1111/and.14096.

Relationship of sperm motility with clinical outcome of percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection in infertile males with congenital domestic absence of vas deferens: a retrospective study.

Jixiang Z, Lianmei Z, Yanghua Z, Huiying X

Zygote (Cambridge, England) 2022; (30(2)):234-238 doi:10.1017/S0967199421000587.

A Triad of Unilateral Renal Dysgenesis with Ipsilateral Seminal Vesical and Ejaculatory Duct Obstruction: An Uncommon Urogenital Congenital Anomaly, Zinner Syndrome-A Case Report.

Gorantla R, Allu S, Rao A

The Indian journal of radiology & imaging 2021; (31(3)):707-709 doi:10.1055/s-0041-1735503.

Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.

Cheng H, Yang S, Meng Q, et al.

Journal of assisted reproduction and genetics 2022; (39(3)):719-728 doi:10.1007/s10815-022-02417-z.

Ultrasound of the Normal and Abnormal Vas Deferens.

Kerr DM, Middleton WD

Ultrasound quarterly 2022; (38(3)):224-236 doi:10.1097/RUQ.0000000000000588.

Congenital Bilateral Absence of the Vas Deferens.

Cai Z, Li H

Frontiers in genetics 2022; (13()):775123 doi:10.3389/fgene.2022.775123.

The impact of male factors and their correct and early diagnosis in the infertile couple's pathway: 2021 perspectives.

Pallotti F, Barbonetti A, Rastrelli G, et al.

Journal of endocrinological investigation 2022; (45(10)):1807-1822 doi:10.1007/s40618-022-01778-7.

Unilateral Kidney Agenesis and other Kidney Anomalies in Infertile Men with Congenital Bilateral Absence of Vas deferens: A Cross-Sectional Study.

Pahlavan F, Niknejad F, Sajadi H, Vosough A

International journal of fertility & sterility 2022; (16(3)):152-155 doi:10.22074/ijfs.2021.535148.1166.

Does ICSI outcome in obstructive azoospermia differ according to the origin of retrieved spermatozoa or the cause of epididymal obstruction? A comparative study.

Yu X, Lu S, Yuan M, et al.

International urology and nephrology 2022; (54(12)):3087-3095 doi:10.1007/s11255-022-03350-x.

Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.

Li L, Qu X, Cui C, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2364 doi:10.1002/mgg3.2364.

Use of preimplantation genetic testing for monogenic adult-onset conditions: an Ethics Committee opinion.

Fertility and sterility 2024; (122(4)):607-611 doi:10.1016/j.fertnstert.2024.05.165.

Clinical outcomes following preimplantation genetic testing for monogenic conditions: a systematic review of observational studies.

Poulton A, Menezes M, Hardy T, et al.

American journal of obstetrics and gynecology 2025; (232(2)):150-163 doi:10.1016/j.ajog.2024.09.114.

[Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients].

Tang Y, Zhang Y, Wu D, et al.

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2024; (56(5)):763-774.

Precision medicine advances in cystic fibrosis: Exploring genetic pathways for targeted therapies.

R S A, R M, Sastri KT, et al.

Life sciences 2024; (358()):123186 doi:10.1016/j.lfs.2024.123186.

Clinical and Laboratorial Evaluation of Male Infertility. A Detailed Practical Approach.

Fraga LG, Gismondi JP, Sanvido LV, et al.

Archives of medical research 2024; (55(8)):103139 doi:10.1016/j.arcmed.2024.103139.

Congenital absence of vas deferens: Anatomical and embryological inputs from a series of autopsies reported in Europe throughout the 18th and 19th century.

Bendayan M, Boitrelle F, Maurens-Hamdi S

Andrology 2024; doi:10.1111/andr.13815.

IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles.

Poulton A, Menezes M, Hardy T, et al.

Journal of assisted reproduction and genetics 2025; (42(5)):1567-1576 doi:10.1007/s10815-025-03416-6.

Wnt3a is an early regulator of the Wolffian duct directionality via the regulation of apicobasal cell polarity.

Hayashi S, Suzuki H, Takada S, Takemoto T

Developmental biology 2025; (522()):136-142 doi:10.1016/j.ydbio.2025.03.015.

Intact spermatogenesis in an azoospermic patient with AZFa (sY84 and sY86) microdeletion and a homozygous TG12-5T variant in CFTR.

Sun Y, Zhong B, Meng Z, et al.

Basic and clinical andrology 2025; (35(1)):13 doi:10.1186/s12610-025-00260-7.

Seminal vesicle status and its association with semen parameters in congenital bilateral absence of the vas deferens (CBAVD).

Shamohammadi I, Haghpanah A, Eslahi A, et al.

Basic and clinical andrology 2025; (35(1)):24 doi:10.1186/s12610-025-00267-0.

Preventing transmission of dyschromatosis universalis hereditaria through preimplantation genetic testing: A case report.

Wang XL, Zou T, Wu YC, et al.

World journal of clinical cases 2025; (13(31)):110620 doi:10.12998/wjcc.v13.i31.110620.

Prenatal initiation of elexacaftor/tezacaftor/ivacaftor via carrier mother prevents congenital bilateral absence of vas deferens in a male infant with cystic fibrosis.

Thee S, Aleksander P, Lechner L, et al.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2026; doi:10.1016/j.jcf.2026.02.001.

Reproductive Urologist Preferences for Sperm Extraction in Congenital Bilateral Absence of the Vas Deferens.

Passarelli R, Moore K, Islam R, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2026; doi:10.1016/j.eprac.2026.02.012.