WHO. Infertility prevalence estimates, 1990-2021. 2023. https://www.who.int/publications/i/item/978920068315.
Gajbhiye RK, Khan S, Shah R. Genetics of vas aplasia. In: Arafa M, Elbardisi H, Majzoub A, Agarwal A, editors. Genetics of male infertility: a case-based guide for clinicians. Cham: Springer International Publishing; 2020. pp. 221–34. https://doi.org/10.1007/978-3-030-37972-8_13.
Gajbhiye R, Gaikwad A. Cystic Fibrosis, CFTR Gene, and male infertility. In: Singh R, Singh K, editors. Male infertility: understanding causes and treatment. Singapore: Springer Singapore; 2017. pp. 131–50. https://doi.org/10.1007/978-981-10-4017-7_9.
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros. 2011;10:S86–102. https://doi.org/10.1016/S1569-1993(11)60014-3.
Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, et al. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Hum Mutat. 2017;38:1297–315. https://doi.org/10.1002/humu.23276.
Weiske W-H, Sälzler N, Schroeder-Printzen I, Weidner W. Clinical findings in congenital absence of the vasa deferentia. Andrologia. 2000;32:13–8. https://doi.org/10.1111/j.1439-0272.2000.tb02859.x.
Article PubMed CAS Google Scholar
Donohue RE, Fauver HE. Unilateral absence of the vas deferens: A useful clinical sign. JAMA. 1989;261:1180–2. https://doi.org/10.1001/jama.1989.03420080100041.
Article PubMed CAS Google Scholar
Akinsal EC, Baydilli N, Dogan ME, Ekmekcioglu O. Comorbidity of the congenital absence of the vas deferens. Andrologia. 2018;50: e12994. https://doi.org/10.1111/and.12994.
Salwan A, Abdelrahman A. Congenital absence of vas deferens and ectopic kidney. Int J Surg Case Rep. 2017;34:90–2. https://doi.org/10.1016/j.ijscr.2017.03.019.
Article PubMed PubMed Central Google Scholar
Gajbhiye R, Kadam K, Khole A, Gaikwad A, Kadam S, Shah R, et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens and renal anomalies. Indian J Med Res. 2016;143(5):616–23. https://doi.org/10.4103/0971-5916.187110.
Article PubMed PubMed Central CAS Google Scholar
Schlegel PN, Shin D, Goldstein M. Urogenital anomalies in men with congenital absence of the vas deferens. J Urol. 1996;155:1644–8. https://doi.org/10.1016/S0022-5347(01)66152-4.
Article PubMed CAS Google Scholar
Dumur V, Gervais R, Rigot J-M, Lafitte J-J, Manouvrier S, Biserte J, et al. Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Orig Publ. 1990;336:512. https://doi.org/10.1016/0140-6736(90)92066-Q.
Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, et al. Congenital bilateral absence of the vas deferens: A primarily genital form of cystic fibrosis. JAMA. 1992;267:1794–7. https://doi.org/10.1001/jama.1992.03480130110034.
Article PubMed CAS Google Scholar
Darcy DG, Yao-Cohen M, Olson TR, Downie SA. Unilateral complete agenesis of mesonephric duct derivatives in an 82-year-old male cadaver: Embryology, anatomy and clinical considerations. Urol Case Rep. 2017;15:20–2. https://doi.org/10.1016/j.eucr.2017.06.003.
Article PubMed PubMed Central Google Scholar
Gaikwad A, Khan S, Kadam S, Shah R, Kulkarni V, Kumaraswamy R, et al. Cystic fibrosis transmembrane conductance regulator-related male infertility: relevance of genetic testing & counselling in Indian population. Indian J Med Res. 2020;152(6):575–83. https://doi.org/10.4103/ijmr.IJMR_906_18.
Article PubMed PubMed Central Google Scholar
Gajbhiye R, Shah R, Kulkarni V. Genetic testing (CFTR -mutations) in Indian men with congenital bilateral absence of vas deferens (CBAVD) before undergoing Intracytoplasmic Sperm Injection (ICSI) Policy Brief. 2020. https://doi.org/10.13140/RG.2.2.26697.77921.
Bieth E, Hamdi SM, Mieusset R. Genetics of the congenital absence of the vas deferens. Hum Genet. 2021;140:59–76. https://doi.org/10.1007/s00439-020-02122-w.
Wu H, Gao Y, Ma C, Shen Q, Wang J, Lv M, et al. A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens. J Assist Reprod Genet. 2020;37:1421–9. https://doi.org/10.1007/s10815-020-01779-6.
Article PubMed PubMed Central Google Scholar
Yuan P, Liang ZK, Liang H, Zheng LY, Li D, Li J, et al. Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing and 2 alleles. Andrology. 2019;7:329–40. https://doi.org/10.1111/andr.12592.
Article PubMed CAS Google Scholar
Patat O, Pagin A, Siegfried A, Mitchell V, Chassaing N, Faguer S, et al. Truncating mutations in the adhesion g protein-coupled receptor G2 gene ADGRG2 cause an x-linked congenital bilateral absence of vas deferens. Am J Hum Genet. 2016;99:437–42. https://doi.org/10.1016/j.ajhg.2016.06.012.
Article PubMed PubMed Central CAS Google Scholar
Cai Z, Li H. Congenital bilateral absence of the vas deferens. Front Genet. 2022;13:775123. https://doi.org/10.3389/fgene.2022.775123.
Wu Y-N, Chen K-C, Wu C-C, Lin Y-H, Chiang H-S. SLC9A3 SLC9A3 affects vas deferens development and associates with taiwanese congenital bilateral absence of the vas deferens. BioMed Res Int. 2019;2019:3562719. https://doi.org/10.1155/2019/3562719.
Article PubMed PubMed Central CAS Google Scholar
Lee C-H, Wu C-C, Wu Y-N, Chiang H-S. Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens. Hum Reprod. 2009;24:748–55. https://doi.org/10.1093/humrep/den413.
Article PubMed CAS Google Scholar
Cai H, Qing X, Niringiyumukiza JD, Zhan X, Mo D, Zhou Y, et al. CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies. Genet Med. 2019;21:826–36. https://doi.org/10.1038/s41436-018-0262-7.
Article PubMed CAS Google Scholar
Browne JA, Yang R, Leir S-H, Eggener SE, Harris A. Expression profiles of human epididymis epithelial cells reveal the functional diversity of caput, corpus and cauda regions. Mol Hum Reprod. 2016;22:69–82. https://doi.org/10.1093/molehr/gav066.
Article PubMed CAS Google Scholar
Sudhakar DVS, Phanindranath R, Jaishankar S, Ramani A, Kalamkar KP, Kumar U, et al. Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility. Hum Mol Genet. 2023;32:533–42. https://doi.org/10.1093/hmg/ddac216.
Article PubMed CAS Google Scholar
Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, et al. VarSome: the human genomic variant search engine. Bioinformatics. 2019;35:1978–80. https://doi.org/10.1093/bioinformatics/bty897.
Article PubMed CAS Google Scholar
Pagin A, Bergougnoux A, Girodon E, Reboul M-P, Willoquaux C, Kesteloot M, et al. Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens. Andrology. 2020;8:618–24. https://doi.org/10.1111/andr.12744.
Article PubMed CAS Google Scholar
Obermann H, Samalecos A, Osterhoff C, Schröder B, Heller R, Kirchhoff C. HE6, a two-subunit heptahelical receptor associated with apical membranes of efferent and epididymal duct epithelia. Mol Reprod Dev. 2003;64:13–26. https://doi.org/10.1002/mrd.10220.
Article PubMed CAS Google Scholar
Davies B, Behnen M, Cappallo-Obermann H, Spiess A-N, Theuring F, Kirchhoff C. Novel epididymis-specific mRNAs downregulated by HE6/Gpr64 receptor gene disruption. Mol Reprod Dev. 2007;74:539–53. https://doi.org/10.1002/mrd.20636.
Article PubMed CAS Google Scholar
Hamann J, Aust G, Araç D, Engel FB, Formstone C, Fredriksson R, et al. International union of basic and clinical pharmacology. XCIV. Adhesion G protein–coupled receptors. Pharmacol Rev 2015;67:338. https://doi.org/10.1124/pr.114.009647.
Eisermann K, Wang D, Jing Y, Pascal LE, Wang Z. Androgen receptor gene mutation, rearrangement, polymorphism. Transl Androl Urol. 2013;2:13747–13147. https://doi.org/10.3978/j.issn.2223-4683.2013.09.15.
Shao J, Hou J, Li B, Li D, Zhang N, Wang X. Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome. Intractable Rare Dis Res. 2015;4:54–9. https://doi.org/10.5582/irdr.2014.01035.
Article PubMed PubMed Central Google Scholar
Lyon MF, Hawkes SG. X-linked gene for testicular feminization in the mouse. Nature. 1970;227:1217–9. https://doi.org/10.1038/2271217a0.
Article PubMed CAS Google Scholar
Brischoux-Boucher E, Dahlen E, Gronier C, Nobili F, Marcoux E, Alkuraya FS, et al. Bifid nose as t
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