Fedder J, Crüger D, Oestergaard B, Bruun Petersen G. Etiology of azoospermia in 100 consecutive nonvasectomized men. Fertil Steril. 2004;82:1463–5.
Miller DC, Saigal CS, Litwin MS. The demographic burden of urologic diseases in America. Urol Clin North Am. 2009;36:11–27.
Chung E, Brock GB. Cryptorchidism and its impact on male fertility: a state of art review of current literature. Can Urol Assoc J. 2011;5:210–4.
Forest MG, Sizonenko PC, Cathiard AM, Bertrand J. Hypophyso-gonadal function in humans during the first year of life. Evidence for testicular activity in early infancy. J Clin Invest. 1974;53:819–28.
Winter JSD, Hughes IA, Reyes FI, Faiman C. Pituitary gonadal relations in infancy: II. Patterns of serum gonadal steroid concentrations in man from birth to two years of age. J Clin Endocrinol Metab. 1976;42:679–86.
Corbier P, Edwards DA, Roffi J. The neonatal testosterone surge: a comparative study. Arch Int Physiol Biochim Biophys. 1992;100:127–31.
Hadziselimovic F, Zivkovic D, Bica DTG, Emmons LR. The importance of mini-puberty for fertility in cryptorchidism. J Urol. 2005;174:1536–9; discussion 1538-1539.
Hadziselimovic F, Gegenschatz-Schmid K, Verkauskas G, Docampo-Garcia MJ, Demougin P, Bilius V, et al. Gene expression changes underlying idiopathic central hypogonadism in cryptorchidism with defective mini-puberty. Sex Dev. 2016;10(3):136-46. https://doi.org/10.1159/000447762. Epub 2016 Sep 13.
Hadziselimovic F, Herzog B. The importance of both an early orchidopexy and germ cell maturation for fertility. Lancet. 2001;358:1156–7.
Hadziselimovic F, Höcht B, Herzog B, Buser MW. Infertility in cryptorchidism is linked to the stage of germ cell development at orchidopexy. Horm Res. 2007;68:46–52.
Hadziselimovic F, Höcht B. Testicular histology related to fertility outcome and postpubertal hormone status in cryptorchidism. Klin Padiatr. 2008;220:302–7.
Hadziselimovic F, Höcht B, Herzog B, Girard J. Does long term treatment with Buserelin improve the fertility chances of Cryptorchid testes? Labrie F, Belanger A, Dupont A, Ed LH-RH its analog Amsterdam Elsevier. Amsterdam-New York-Oxford: Elsevier; 1984. p. 457.
Hadziselimovic F, Gegenschatz-Schmid K, Verkauskas G, Demougin P, Bilius V, Dasevicius D, et al. GnRHa treatment of Cryptorchid boys affects genes involved in hormonal control of the HPG Axis and fertility. Sex Dev. 2017;11(3):126-36. https://doi.org/10.1159/000471937. Epub 2017 May 16.
Gegenschatz-Schmid K, Verkauskas G, Demougin P, Bilius V, Dasevicius D, Stadler MB, et al. DMRTC2, PAX7, BRACHYURY/T and TERT are implicated in male germ cell development following curative hormone treatment for cryptorchidism-induced infertility. Genes (Basel). 2017;8(10):E267. https://doi.org/10.3390/genes8100267.
Gegenschatz-Schmid K, Verkauskas G, Demougin P, Bilius V, Dasevicius D, Stadler MB, et al. Curative GnRHa treatment has an unexpected repressive effect on Sertoli cell specific genes. Basic Clin Androl. 2018;28:2. https://doi.org/10.1186/s12610-018-0067-1. eCollection 2018.
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.
Vogt PH, Bender U, Zimmer J, Strowitzki T. Human Y chromosome and male infertility: forward and Back from azoospermia factor chromatin structure to azoospermia factor gene function; 2017. p. 57–73.
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003;423:825–37.
Chandley AC, Edmond P. Meiotic studies on a subfertile patient with a ring Y chromosome. Cytogenetics. 1971;10(4):295-304.
Navarro-Costa P, Plancha CE, Gonçalves J. Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility? J Biomed Biotechnol. 2010;2010:1–18.
Foresta C, Ferlin A, Garolla A, Moro E, Pistorello M, Barbaux S, et al. High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod. 1998;13:302–7.
Blagosklonova O, Fellmann F, Clavequin MC, Roux C, Bresson JL. AZFa deletions in Sertoli cell-only syndrome: a retrospective study. Mol Hum Reprod. 2000;6:795–9.
Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, Mielnik A, et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod. 2001;7:987–94.
Okada Y, Scott G, Ray MK, Mishina Y, Zhang Y. Histone demethylase JHDM2A is critical for Tnp1 and Prm1 transcription and spermatogenesis. Nature. 2007;450:119–23.
Liu Z, Zhou S, Liao L, Chen X, Meistrich M, Xu J. Jmjd1a demethylase-regulated histone modification is essential for cAMP-response element modulator-regulated gene expression and spermatogenesis. J Biol Chem. 2010;285:2758–70.
Kuroki S, Akiyoshi M, Tokura M, Miyachi H, Nakai Y, Kimura H, et al. JMJD1C, a JmjC domain-containing protein, is required for long-term maintenance of male germ cells in mice. Biol Reprod. 2013;89:93.
Shamoo Y, Abdul-Manan N, Williams KR. Multiple RNA binding domains (RBDs) just don’t add up. Nucleic Acids Res. 1995;23:725–8.
Elliott DJ, Millar MR, Oghene K, Ross A, Kiesewetter F, Pryor J, et al. Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc Natl Acad Sci U S A. 1997;94:3848–53.
Chai NN, Zhou H, Hernandez J, Najmabadi H, Bhasin S, Yen PH. Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene. Genomics. 1998;49:283–9.
Lahn BT, Tang ZL, Zhou J, Barndt RJ, Parvinen M, Allis CD, et al. Previously uncharacterized histone acetyltransferases implicated in mammalian spermatogenesis. Proc Natl Acad Sci U S A. 2002;99:8707–12.
Yen PH. Putative biological functions of the DAZ family. Int J Androl. 2004;27:125–9.
Reynolds N, Cooke HJ. Role of the DAZ genes in male fertility. Reprod BioMed Online. 2005;10:72–80.
Fu X-F, Cheng S-F, Wang L-Q, Yin S, De Felici M, Shen W. DAZ family proteins, key players for germ cell development. Int J Biol Sci. 2015;11:1226–35.
Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. 1990;346:240–4.
Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature. 1991;351:117–21.
Salo P, Kääriäinen H, Petrovic V, Peltomäki P, Page DC, de la Chapelle A. Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. Genes Chromosomes Cancer. 1995;14:210–4.
Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet. 1995;57:1400–7.
Vincel B, Verkauskas G, Bilius V, Dasevicius D, Malcius D, Jones B, et al. Gonadotropin-releasing hormone agonist corrects defective mini-puberty in boys with cryptorchidism: a prospective randomized study. Biomed Res Int. 2018;2018:4651218. https://doi.org/10.1155/2018/4651218. eCollection 2018.
Seguchi H, Hadziselimovic F. Ultramicroscopic studies on the seminiferous tubule in children from birth to puberty. I. Spermatogonia development. Verh Anat Ges. 1974;68:133–48.
Singh NP, Madabhushi SR, Srivastava S, Senthilkumar R, Neeraja C, Khosla S, et al. Epigenetic profile of the euchromatic region of human Y chromosome. Nucleic Acids Res. 2011;39:3594–606.
Zhang M, Wang C-C, Yang C, Meng H, Agbagwa IO, Wang L-X, et al. Epigenetic pattern on the human Y chromosome is evolutionarily conserved. PLoS One. 2016;11:e0146402.
Marques CJ, Carvalho F, Sousa M, Barros A. Genomic imprinting in disruptive spermatogenesis. Lancet (London, England). 2004;363:1700–2.
Kobayashi H, Sato A, Otsu E, Hiura H, Tomatsu C, Utsunomiya T, et al. Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients. Hum Mol Genet. 2007;16:2542–51.
Marques CJ, Costa P, Vaz B, Carvalho F, Fernandes S, Barros A, et al. Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia. Mol Hum Reprod. 2008;14:67–74.
Stuppia L, Franzago M, Ballerini P, Gatta V, Antonucci I. Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health. Clin Epigenetics. 2015;7:120. https://doi.org/10.1186/s13148-015-0155-4. eCollection 2015.
Hammoud SS, Purwar J, Pflueger C, Cairns BR, Carrell DT. Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility. Fertil Steril. 2010;94:1728–33.
Marques CJ, Francisco T, Sousa S, Carvalho F, Barros A, Sousa M. Methylation defects of imprinted genes in human testicular spermatozoa. Fertil Steril. 2010;94:585–94.
Hammoud SS, Nix DA, Hammoud AO, Gibson M, Cairns BR, Carrell DT. Genome-wide analysis identifies changes in histone retention and epigenetic modifications at developmental and imprinted gene loci in the sperm of infertile men. Hum Reprod. 2011;26:2558–69.
Walport LJ, Hopkinson RJ, Vollmar M, Madden SK, Gileadi C, Oppermann U, et al. Human UTY(KDM6C) is a male-specific Nϵ-methyl lysyl demethylase. J Biol Chem. 2014;289:18302–13.
Iwase S, Lan F, Bayliss P, de la Torre-Ubieta L, Huarte M, Qi HH, et al. The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. Cell. 2007;128:1077–88.
Lee MG, Norman J, Shilatifard A, Shiekhattar R. Physical and functional association of a trimethyl H3K4 demethylase and Ring6a/MBLR, a polycomb-like protein. Cell. 2007;128:877–87.
Shpargel KB, Sengoku T, Yokoyama S, Magnuson T. UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development. PLoS Genet. 2012;8:e1002964.
Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, et al. Spermatogenesis in a man with complete deletion of USP9Y. N Engl J Med. 2009;360:881–5.
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.
Yan Y, Yang X, Liu Y, Shen Y, Tu W, Dong Q, et al. Copy number variation of functional RBMY1 is associated with sperm motility: an azoospermia factor-linked candidate for asthenozoospermia. Hum Reprod. 2017;32:1521–31.