Zegers-hochschild F, Adamson GD, Dyer S, et al. The international glossary on infertility and fertility care, 2017. Fertil Steril. 2017;108:393–406.
Agarwal A, Baskaran S, Parekh N, et al. Male infertility. The Lancet. 2021;397:319–33.
Agarwal A, Mulgund A, Hamada A, et al. A unique view on male infertility around the globe. Reprod Biol Endocrinol. 2015;13. https://doi.org/10.1186/S12958-015-0032-1.
Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med. 2008;14:1197–213.
Article CAS PubMed PubMed Central Google Scholar
Zorrilla M, Yatsenko AN. The genetics of infertility: current status of the field. Curr Genet Med Rep. 2013;1:247–60.
Karavolos S, Panagiotopoulou N, Alahwany H, et al. An update on the management of male infertility. Obstet Gynaecol. 2020;22:267–74.
Griswold MD. 50 years of spermatogenesis: Sertoli cells and their interactions with germ cells. Biol Reprod. 2018;99:87–100.
Article PubMed PubMed Central Google Scholar
Neto FTL, Bach PV, Najari BB, et al. Spermatogenesis in humans and its affecting factors. Semin Cell Dev Biol. 2016;59:10–26.
Jan SZ, Hamer G, Repping S, et al. Molecular control of rodent spermatogenesis. Biochim Biophys Acta - Mol Basis Dis. 2012;1822:1838–50.
Witchel SF. Disorders of sex development. Best Pr Res Clin Obs Gynaecol. 2018;48:90–102.
Hwang K, Yatsenko AN, Jorgez JC, et al. Mendelian genetics of male infertility. Ann N Y Acad Sci. 2010;1214:E1–17.
Article PubMed PubMed Central Google Scholar
Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018;15:369–84.
Article CAS PubMed Google Scholar
Martins AD, Majzoub A, Agawal A. Metabolic syndrome and male fertility. World J Men’s Heal. 2019;37:113–27.
Mima M, Greenwald D, Ohlander S. Environmental toxins and male fertility. Curr Urol Rep. 2018;19. https://doi.org/10.1007/s11934-018-0804-1.
Harton GL, Tempest HG. Chromosomal disorders and male infertility. Asian J Androl. 2012;14(1):32–9.
Ilacqua A, Izzo G, Emerenziani GP, et al. Lifestyle and fertility: the influence of stress and quality of life on male fertility. Reprod Biol Endocrinol. 2018;16:1–11.
Hamada A, Esteves SC, Nizza M, et al. Unexplained male infertility: diagnosis and management. Int Braz J Urol. 2012;38(5):576–94.
Gianotten J, Lombardi MP, Zwinderman AH, et al. Idiopathic impaired spermatogenesis: genetic epidemiology is unlikely to provide a short-cut to better understanding. Hum Reprod Update. 2004;10:533–9.
Tournaye H. Male factor infertility and ART. Asian J Androl. 2012;14:103–8.
Stephens SM, Arnett DM, Meacham RB. The use of in vitro fertilization in the management of male infertility: what the urologist needs to know. Rev Urol. 2013;15:154–60.
PubMed PubMed Central Google Scholar
Esteves SC, Miyaoka R, Agarwal A. Sperm retrieval techniques for assisted reproduction. Int Braz J Urol. 2011;37:570–83.
Spiller C, Koopman P, Bowles J. Sex determination in the mammalian germline. Annu Rev Genet. 2017;12:22.
Kashimada K, Koopman P. Sry: the master switch in mammalian sex determination. Development. 2010;137(23):3921–30. https://doi.org/10.1242/dev.048983.
Article CAS PubMed Google Scholar
Hanley NA, Hagan DM, Clement-Jones M, et al. SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mech Dev. 2000;91:403–7.
Article CAS PubMed Google Scholar
Svingen T, Koopman P. Building the mammalian testis: origins, differentiation, and assembly of the component cell populations. Genes Dev. 2013;27:2409–26.
Article CAS PubMed PubMed Central Google Scholar
Bonomi M, Rochira V, Pasquali D, et al. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest. 2017;40(2):123–34.
Article CAS PubMed Google Scholar
Klinefelter H, Reifenstein E, Albright F. Syndrome characterized by Gy-necomastia, aspermatogenesis without A-Leydigism, and in-creased excretion of follicle-stimulating hormone. J Clin Endocrinol Metab. 1942;2:615–27.
Shiraishi K, Matsuyama H. Klinefelter syndrome: from pediatrics to geriatrics. Reprod Med Biol. 2019;18:140–50.
Terribile M, Stizzo M, Manfredi C, et al. 46, XX testicular disorder of sex development (DSD): a case report and systematic review. Medicina (Kaunas). 2019;55(7):371.
Grinspon RP, Rey RA. Disorders of sex development with testicular differentiation in SRY-negative 46, XX individuals: clinical and genetic aspects. Sex Dev. 2016;10:1–11.
Article CAS PubMed Google Scholar
Adrião M, Ferreira S, Santos Silva R, et al. 46, XX male disorder of sexual development. Clin Pediar Endocrinol. 2020;29(1):43–5.
Stouffs K, Lissens W. X chromosomal mutations and spermatogenic failure. Biochim Biophys Acta - Mol Basis Dis. 2012;1822:1864–72.
Hughes IA, Davies JD, Bunch TI, et al. Androgen insensitivity syndrome. Lancet. 2012;380:1419–28.
Article CAS PubMed Google Scholar
Mendoza N, Motos MA. Androgen insensitivity syndrome. Gynecol Endocrinol. 2013;29:1–5.
Article CAS PubMed Google Scholar
Colaco S, Modi D. Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol. 2018;16:1–24.
Krausz C, Forti G, Mcelreavey K. The Y chromosome and male fertility and infertility. Int J Androl. 2003;26:70–5.
Disteche CM, Casanova M, Saal H, et al. Small deletions of the short arm of the Y chromosome in 46, XY females. Proc Natl Acad Sci U S A. 1986;83:7841–4.
Article CAS PubMed PubMed Central Google Scholar
Fan Y, Silber SJ. Y chromosome infertility. In: Adam MP, Feldman J, Mirzaa GM, et al. (eds.) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 2002. 1993–2023.
Mierla D, Jardan D, Stoian V. Chromosomal abnormality in men with impaired spermatogenesis. Int J Fertil Steril. 2014;8:35–42.
PubMed PubMed Central Google Scholar
Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm. Hum Genet. 1976;34:119–24.
Article CAS PubMed Google Scholar
Navarro-Costa P, Plancha CE, Gonaçlves J. Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility? J Biomed Biotechnol. 2010. https://doi.org/10.1155/2010/936569.
Ozdemir O, Gul ÆE. SRY and AZF gene variation in male infertility: a cytogenetic and molecular approach. Int Urol Nephrol. 2007;39(4):1183–9.
Article CAS PubMed Google Scholar
Krausz C, Degl’Innocenti S, Nuti F, et al. Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Hum Mol Genet. 2006;15:2673–81.
Article CAS PubMed Google Scholar
Foresta C, Ferlin A, Moro E. Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum Mol Genet. 2000;9:1161–9.
Article CAS PubMed Google Scholar
Ehrmann I, Dalgliesh C, Tsaousi A, et al. Haploinsufficiency of the germ cell-specific nuclear RNA binding protein hnRNP G-T prevents functional spermatogenesis in the mouse. Hum Mol Genet. 2008;17:2803–18.
Article CAS PubMed Google Scholar
Stouffs K, Lissens W, Verheyen G, et al. Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis. Mol Hum Reprod. 2004;10:15–21.
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