Pre-Testicular, Testicular, and Post-Testicular Causes of Male Infertility

Endocrinology (Switzerland)

Volumn , Issue , 2017, Pages 981-1027

  Dimitriadis, Fotios ^a   Adonakis, George ^b   Kaponis, Apostolos ^b   Mamoulakis, Charalampos ^c   Takenaka, Atsushi ^d   Sofikitis, Nikolaos ^e  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b UNIVERSITY OF PATRAS   (Greece)

^c UNIVERSITY OF CRETE   (Greece)

^d TOTTORI UNIVERSITY   (Japan)

^e UNIVERSITY OF IOANNINA   (Greece)

Author keywords

Cryptorchidism; Hypogonadotropic hypogonadism; Idiopathic infertility; Klinefelter s syndrome; Male infertility; Pituitary diseases; Post testicular causes; Pre testicular causes; Sertoli cell only syndrome; Testicular causes; Varicocele; Y chromosome microdeletions

Indexed keywords

FOLLITROPIN RELEASING FACTOR; GONADOTROPIN; LUTEINIZING HORMONE;

ACUTE HIV INFECTION; COITUS INTERRUPTUS; CRANIOPHARYNGIOMA; CRYPTORCHISM; DISORDER OF SEX DEVELOPMENT; ENDOMETRIOSIS; ERECTILE DYSFUNCTION; FEMALE INFERTILITY; GENE MUTATION; GENETIC ANALYSIS; GLOMERULOPATHY; HUMAN; HYPOGONADISM; HYPOGONADOTROPIC HYPOGONADISM; HYPOPARATHYROIDISM; HYPOPHYSIS DISEASE; HYPOPHYSIS TUMOR; KLINEFELTER SYNDROME; LIPOID CONGENITAL ADRENAL HYPERPLASIA; MALE GENITAL SYSTEM; MALE GENITAL TRACT PARAMETERS; MALE INFERTILITY; MYOTONIC DYSTROPHY; NOONAN SYNDROME; ORCHITIS; OVARY HYPERSTIMULATION; OVARY POLYCYSTIC DISEASE; POSTCOITAL TEST; PRIORITY JOURNAL; SERTOLI CELL; SEXUAL DEVELOPMENT; SOCIAL ASPECT; SPERMATOGENESIS; SPERMATOZOON MIGRATION; SPERMATOZOON MOTILITY; TESTICULAR SPERM EXTRACTION; TESTIS DEVELOPMENT; TESTIS DISEASE; TESTIS FUNCTION; TESTIS INJURY; TESTIS SIZE; TESTIS TORSION; TRAUMATIC BRAIN INJURY; VARICOCELE;

EID: 85164763857     PISSN: 25101927     EISSN: 25101935     Source Type: Book Series    
DOI: 10.1007/978-3-319-44441-3_33     Document Type: Chapter

References (352)

1. Abdel-Razic MM, Abdel-Hamid IA, ElSobky ES. Nonmosaic 47,XYY syndrome presenting with male infertility: case series. Andrologia. 2012;44(3):200–4.
2. Abu-Musa A, Hannoun A, Khabbaz A, Devroey P. Failure of fertilization after intracytoplasmic sperm injection in a patient with Kartagener’s syndrome and totally immotile spermatozoa: case report. Hum Reprod. 1999;14(10):2517–8.
3. Agarwal A, Deepinder F, Sharma RK, Ranga G, Li J. Effect of cell phone usage on semen analysis in men attending infertility clinic: an observational study. Fertil Steril. 2008;89(1):124–8.
4. Agbaje IM, Rogers DA, McVicar CM, McClure N, Atkinson AB, Mallidis C, Lewis SE. Insulin dependant diabetes mellitus: implications for male reproductive function. Hum Reprod. 2007; 22(7):1871–7.
5. Aitken RJ. Free radicals, lipid peroxidation and sperm function. Reprod Fertil Dev. 1995; 7(4):659–68.
6. Allanson JE. Noonan syndrome. Am J Med Genet C Semin Med Genet. 2007;145C(3):274–9.
7. Allanson JE, Roberts AE. Noonan syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle: University of Washington; 2001.
8. Alvarez JG, Storey BT. Assessment of cell damage caused by spontaneous lipid peroxidation in rabbit spermatozoa. Biol Reprod. 1984;30(2):323–31.
9. Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA. 1992;267(13):1794–7.
10. Anim JT, Kehinde EO, Prasad A, Varghese R. Morphological responses of the rabbit testis to ischemic/reperfusion injury due to torsion. Urol Int. 2005;75(3):258–63.
11. Anzai C, Morokawa N, Okada H, Kamidono S, Eto Y, Yoshimura K. CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. J Cyst Fibros. 2003; 2(1):14–8.
12. Ariel M, Robinson E, McCarrey JR, Cedar H. Gamete-specific methylation correlates with imprinting of the murine Xist gene. Nat Genet. 1995;9(3):312–5.
13. Asklund C, Jorgensen N, Skakkebaek NE, Jensen TK. Increased frequency of reproductive health problems among fathers of boys with hypospadias. Hum Reprod. 2007;22(10):2639–46.
14. Attardo T, Vicari E, Mollica F, Grazioso C, Burrello N, Garofalo MR, Lizzio MN, Garigali G, Cannizzaro M, Ruvolo G, D’Agata R, Calogero AE. Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens. Int J Androl. 2001; 24(2):73–9.
15. Augarten A, Yahav Y, Kerem BS, Halle D, Laufer J, Szeinberg A, Dor J, Mashiach S, Gazit E, Madgar I. Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet. 1994;344(8935):1473–4.
16. Baazeem A, Belzile E, Ciampi A, Dohle G, Jarvi K, Salonia A, Weidner W, Zini A. Varicocele and male factor infertility treatment: a new meta-analysis and review of the role of varicocele repair. Eur Urol. 2011;60(4):796–808.
17. Backhouse KM. Embryology of testicular descent and maldescent. Urol Clin North Am. 1982;9:315–25.
18. Baker HW. Reproductive effects of nontesticular illness. Endocrinol Metab Clin North Am. 1998;27(4):831–50.
19. Baker K, Sabanegh Jr E. Obstructive azoospermia: reconstructive techniques and results. Clinics (Sao Paulo). 2013;68 Suppl 1:61–73.
20. Bar-Maor JA, Groisman G, Lam M. Antenatal torsion of the testes, a cause of vanishing testis syndrome. Pediatr Surg Int. 1993;8:236–8.
21. Bareil C, Guittard C, Altieri JP, Templin C, Claustres M, des Georges M. Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. J Mol Diagn. 2007;9(5):582–8.
22. Barseghyan H, Delot E, Vilain E. New genomic technologies: an aid for diagnosis of disorders of sex development. Horm Metab Res. 2015;47(5):312–20.
23. Bartak V. Sperm count, morphology and motility after unilateral mumps orchitis. J Reprod Fertil. 1973;32(3):491–4.
24. Bartsch G, Frank S, Marberger H, Mikuz G. Testicular torsion: late results with special regard to fertility and endocrine function. J Urol. 1980;124(3):375–8.
25. Bay K, Main KM, Toppari J, Skakkebaek NE. Testicular descent: INSL3, testosterone, genes and the intrauterine milieu. Nat Rev Urol. 2011;8(4):187–96.
26. Benoff SH, Millan C, Hurley IR, Napolitano B, Marmar JL. Bilateral increased apoptosis and bilateral accumulation of cadmium in infertile men with left varicocele. Hum Reprod. 2004; 19(3):616–27.
27. Berardinucci D, Zini A, Jarvi K. Outcome of microsurgical reconstruction in men with suspected epididymal obstruction. J Urol. 1998;159(3):831–4.
28. Beretta G. Iatrogenic infertility. In: Cavallini G, Beretta G, editors. Clinical management of male infertility. New York/Dordrecht/London: Springer; 2015. p. 145–51.
29. Bergmann M, Behre HM, Nieschlag E. Serum FSH and testicular morphology in male infertility. Clin Endocrinol (Oxf). 1994;40(1):133–6.
30. Bhagavath B, Podolsky RH, Ozata M, Bolu E, Bick DP, Kulharya A, Sherins RJ, Layman LC. Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. Fertil Steril. 2006;85(3):706–13.
31. Bird TD. Myotonic dystrophy type 1. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. GeneReviews® [Internet]. Seattle: University of Washington; 1993–2016 [updated 2015 Oct 22].
32. Blanco J, Rubio C, Simon C, Egozcue J, Vidal F. Increased incidence of disomic sperm nuclei in a 47,XYY male assessed by fluorescent in situ hybridization (FISH). Hum Genet. 1997; 99(3):413–6.
33. Bohring C, Krause W. Immune infertility: towards a better understanding of sperm (auto)-immu-nity. The value of proteomic analysis. Hum Reprod. 2003;18(5):915–24.
34. Bona G, Marinello D, Oderda G. Mechanisms of abnormal puberty in coeliac disease. Horm Res. 2002;57 Suppl 2:63–5.
35. Bonde JP. Effects of lifestyle and toxicants. In: Schill WB, Comhaire FH, Hargreave TB, editors. Andrology for the clinician. Berlin/Heidelberg/New York: Springer; 2006. p. 348–57.
36. Bonde JP, Toppari J. Prevention of male infertility: environmental and systemic disease effects on male fertility. In: Björndahl L, Giwercman A, Tournaye H, Weidner W, editors. Clinical andrology EAU/ESAU course guidelines. New York: Informa Healthcare; 2010. p. 164–75.
37. Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, Jaubert F, Toublanc M, McElreavey K, Vilain E, et al. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol (Oxf). 1994; 40(6):733–42.
38. Brackett NL, Lynne CM, Ibrahim E, Ohl DA, Sonksen J. Treatment of infertility in men with spinal cord injury. Nat Rev Urol. 2010;7(3):162–72.
39. Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD, Schlegel PN. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod. 1998;13(1O):2812–5.
40. Bronspiegel-Weintrob N, Oliver NF, Tyler B, Andrews DF, Freedman MH, Holland FJ. Effect of age at the start of iron chelation therapy on gonadal function in beta-thalassemia major. N Engl J Med. 1990;323:713–9.
41. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3’ end of a transcript encoding a protein kinase family member. Cell. 1992;68(4):799–808.
42. Bush A, Ferkol T. Movement: the emerging genetics of primary ciliary dyskinesia. Am J Respir Crit Care Med. 2006;174(2):109–10.
43. Calogero AE, Garofalo MR, Barone N, De Palma A, Vicari E, Romeo R, Tumino S, D’Agata R. Spontaneous regression over time of the germinal epithelium in a Y chromosome-microdeleted patient: case report. Hum Reprod. 2001;16(9):1845–8.
44. Carlsen E, Andersson AM, Petersen JH, Skakkebaek NE. History of febrile illness and variation in semen quality. Hum Reprod. 2003;18(10):2089–92.
45. Carpino A, Sisci D, Aquila S, Salerno M, Siciliano L, Sessa M, Ando S. Adnexal gland secretion markers in unexplained asthenozoospermia. Arch Androl. 1994;32(1):37–43.
46. Carson JL, Collier AM, Hu SS. Acquired ciliary defects in nasal epithelium of children with acute viral upper respiratory infections. N Engl J Med. 1985;312(8):463–8.
47. Casals T, Bassas L, Ruiz-Romero J, Chillon M, Gimenez J, Ramos MD, Tapia G, Narvaez H, Nunes V, Estivill X. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet. 1995;95(2): 205–11.
48. Cayan S, Shavakhabov S, Kadioglu A. Treatment of palpable varicocele in infertile men: a meta-analysis to define the best technique. J Androl. 2009;30(1):33–40.
49. Cendron M, Schned AR, Ellsworth PI. Histological evaluation of the testicular nubbin in the vanishing testis syndrome. J Urol. 1998;160(3 Pt 2):1161–2; discussion 1163.
50. Chan PT, Brandell RA, Goldstein M. Prospective analysis of outcomes after microsurgical intussusception vasoepididymostomy. BJU Int. 2005;96(4):598–601.
51. Chan PT, Lee R, Li PS. Six years of experience with microsurgical longitudinal intussusception vasoepididymostomy (LIVE): a prospective analysis [abstract]. J Urol. 2008;179(suppl):591.
52. Chehensse C, Bahrami S, Denys P, Clement P, Bernabe J, Giuliano F. The spinal control of ejaculation revisited: a systematic review and meta-analysis of anejaculation in spinal cord injured patients. Hum Reprod Update. 2013;19(5):507–26.
53. Chevret E, Rousseaux S, Monteil M, Usson Y, Cozzi J, Pelletier R, Sele B. Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35,142 sperm nuclei from two 47,XYY males. Hum Genet. 1997;99(3):407–12.
54. Chiang HS, Lu JF, Liu CH, Wu YN, Wu CC. CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis. Clin Genet. 2009;76(3): 282–6.
55. Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med. 1995;332(22):1475–80.
56. Chiu WW, Chamley LW. Clinical associations and mechanisms of action of antisperm antibodies. Fertil Steril. 2004;82(3):529–35.
57. Clarke BG. Incidence of varicocele in normal men and among men of different ages. JAMA. 1966;198(10):1121–2.
58. Colpi GM, Contalbi GF, Nerva F, Sagone P, Piediferro G. Testicular function following chemo-radiotherapy. Eur J Obstet Gynecol Reprod Biol. 2004;113 Suppl 1:S2–6.
59. Cornwall GA. Role of posttranslational protein modifications in epididymal sperm maturation and extracellular quality control. In: Sutovsky P, editor. Posttranslational protein modifications in the reproductive system, Advances in experimental medicine and biology. New York: Springer; 2014. p. 159–80.
60. Costabile RA, Spevak M. Cancer and male factor infertility. Oncology (Williston Park). 1998;12(4): 557–62, 565; discussion 566–58, 570.
61. Costabile RA, Spevak M. Characterization of patients presenting with male factor infertility in an equal access, no cost medical system. Urology. 2001;58(6):1021–24.
62. Costes B, Girodon E, Ghanem N, Flori E, Jardin A, Soufir JC, Goossens M. Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet. 1995;3(5):285–93.
63. Coulam CB. Testicular regression syndrome. Obstet Gynecol. 1979;53(1):44–9.
64. Courty A, Franchebois P. [The genital disturbances in arteritis]. Presse Med. 1952;60(65):1379–81.
65. Crum NF, Furtek KJ, Olson PE, Amling CL, Wallace MR. A review of hypogonadism and erectile dysfunction among HIV-infected men during the pre-and post-HAART eras: diagnosis, pathogenesis, and management. AIDS Patient Care STDS. 2005;19(10):655–71.
66. Culard JF, Desgeorges M, Costa P, Laussel M, Razakatzara G, Navratil H, Demaille J, Claustres M. Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum Genet. 1994;93(4):467–70.
67. Dacheux JL, Dacheux F. New insights into epididymal function in relation to sperm maturation. Reproduction. 2014;147(2):R27–42.
68. Dalton JC, Ranum LPW, Day JW. Myotonic dystrophy type 2. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. GeneReviews®. Seattle: University of Washington; 1993–2016. 2006 Sep 21 [updated 2013 Jul 3].
69. Danan C, Sternberg D, Van Steirteghem A, Cazeneuve C, Duquesnoy P, Besmond C, Goossens M, Lissens W, Amselem S. Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection. Am J Hum Genet. 1999;65(2):463–73.
70. Davila Garza SA, Patrizio P. Reproductive outcomes in patients with male infertility because of Klinefelter’s syndrome, Kartagener’s syndrome, round-head sperm, dysplasia fibrous sheath, and ‘stump’ tail sperm: an updated literature review. Curr Opin Obstet Gynecol. 2013;25(3): 229–46.
71. De Braekeleer M, Ferec C. Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. Mol Hum Reprod. 1996;2(9):669–77.
72. de Lamirande E, Gagnon C. Capacitation-associated production of superoxide anion by human spermatozoa. Free Radic Biol Med. 1995;18(3):487–495.
73. De Sanctis V, Katz M, Wonke B. Semen parameters in patients with homozygous β-thalassemia. Infertility. 1989;12:167–74.
74. Dejucq N, Jegou B. Viruses in the mammalian male genital tract and their effects on the reproductive system. Microbiol Mol Biol Rev. 2001;65(2):208–31; first and second pages, table of contents.
75. Del Castillo EB, Trabucco A, FA DElB. Syndrome produced by absence of the germinal epithelium without impairment of the Sertoli or Leydig cells. J Clin Endocrinol Metab. 1947;7(7):493–502.
76. Délot EC, Vilain EJ. Nonsyndromic 46,XX testicular disorders of sex development. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle: University of Washington; 1993–2016. 2003 Oct 30 [updated 2015 May 7].
77. Diao R, Fok KL, Zhao L, Chen H, Tang H, Chen J, Zheng A, Zhang X, Gui Y, Chan HC, Cai Z. Decreased expression of cystic fibrosis transmembrane conductance regulator impairs sperm quality in aged men. Reproduction. 2013;146(6):637–45.
78. Dimitriadis F, Giannakis D, Pardalidis N, Tsoukanelis K, Kanakas N, Saito M, Watanabe T, Miyagawa I, Tsounapi P, Sofikitis N. Effects of primary testicular damage on sperm DNA oxidative status and embryonic and foetal development. Andrologia. 2009;41(5):282–96.
79. Ding EL, Song Y, Malik VS, Liu S. Sex differences of endogenous sex hormones and risk of type 2 diabetes: a systematic review and meta-analysis. JAMA. 2006;295(11):1288–99.
80. Dohle GR, Colpi GM, Hargreave TB, Papp GK, Jungwirth A, Weidner W. EAU guidelines on male infertility. Eur Urol. 2005;48(5):703–11.
81. Dorfman DM, Genest DR, Reijo Pera RA. Human DAZL1 encodes a candidate fertility factor in women that localizes to the prenatal and postnatal germ cells. Hum Reprod. 1999;14 (10):2531–6.
82. Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet. 1997;100(3–4):365–77.
83. Dumur V, Gervais R, Rigot JM, Lafitte JJ, Manouvrier S, Biserte J, Mazeman E, Roussel P. Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet. 1990;336(8713):512.
84. Dwyer AA, Raivio T, Pitteloud N. Gonadotrophin replacement for induction of fertility in hypogonadal men. Best Pract Res Clin Endocrinol Metab. 2015;29(1):91–103.
85. Eggert-Kruse W, Rohr G, Demirakca T, Rusu R, Naher H, Petzoldt D, Runnebaum B. Chlamydial serology in 1303 asymptomatic subfertile couples. Hum Reprod. 1997;12(7):1464–75.
86. Egozcue S, Blanco J, Vendrell JM, Garcia F, Veiga A, Aran B, Barri PN, Vidal F, Egozcue J. Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update. 2000;6(1):93–105.
87. El-Dahtory F, Elsheikha HM. Male infertility related to an aberrant karyotype, 47,XYY: four case reports. Cases J. 2009;2(1):28.
88. el-Hazmi MA, Bahakim HM, al-Fawaz I. Endocrine functions in sickle cell anaemia patients. J Trop Pediatr. 1992;38(6):307–13.
89. Elder JS. Laparoscopy for impalpable testes: significance of the patent processus vaginalis. J Urol. 1994;152(2 Pt 2):776–8.
90. Emir H, Ayik B, Elicevik M, Buyukunal C, Danismend N, Dervisoglu S, Soylet Y. Histological evaluation of the testicular nubbins in patients with nonpalpable testis: assessment of etiology and surgical approach. Pediatr Surg Int. 2007;23(1):41–4.
91. Evenson DP, Jost LK, Corzett M, Balhorn R. Characteristics of human sperm chromatin structure following an episode of influenza and high fever: a case study. J Androl. 2000;21(5):739–46.
92. Faed M, Robertson J, MacIntosh WG, Grieve J. Spermatogenesis in an infertile XYY man. Hum Genet. 1976;33(3):341–7.
93. Farmaki K, Tzoumari I, Pappa C, Chouliaras G, Berdoukas V. Normalisation of total body iron load with very intensive combined chelation reverses cardiac and endocrine complications of thalassaemia major. Br J Haematol. 2010;148(3):466–75.
94. Farthing MJ, Dawson AM. Impaired semen quality in Crohn’s disease – drugs, ill health, or undernutrition? Scand J Gastroenterol. 1983;18(1):57–60.
95. Fechner PY, Marcantonio SM, Jaswaney V, Stetten G, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD, Amrhein JA, Bard PA, et al. The role of the sex-determining region Y gene in the etiology of 46,XX maleness. J Clin Endocrinol Metab. 1993;76(3):690–5.
96. Foresta C, Ferlin A, Garolla A, Moro E, Pistorello M, Barbaux S, Rossato M. High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod. 1998;13(2):302–7.
97. Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune JP, Briault S, Rio M, Bourouillou G, Carre-Pigeon F, Wasels R, Benzacken B. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod. 2001;16(1): 82–90.
98. Georgopoulos NA, Koika V, Varnavas P, Efthymiadou A, Marioli DJ, Mantagos S, Chrysis D. Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements. Asian J Androl. 2009;11(4):521–3.
99. Giachini C, Guarducci E, Longepied G, Degl’Innocenti S, Becherini L, Forti G, Mitchell MJ, Krausz C. The gr/gr deletion(s): a new genetic test in male infertility? J Med Genet. 2005;42(6): 497–502.
100. Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C. Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum Genet. 2008;124(4):399–410.
101. Giagulli VA, Carbone MD. Varicocele correction for infertility: which patients to treat? Int J Androl. 2011;34(3):236–41.
102. Giannakis D, Baltogiannis D, Tsoukanelis K, Loutradis D, Miyagawa I, Makrydimas G, Kanakas N, Sofikitis N. Role of testicular tissue telomerase assay for the prediction of the presence of testicular spermatozoa in azoospermic men with varicoceles, pre-and post-varicocelectomy. Andrologia. 2004;36(3):111–22.
103. Giuliani R, Antonucci I, Torrente I, Grammatico P, Palka G, Stuppia L. Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols. Asian J Androl. 2010;12(6):819–26.
104. Giwercman A, Giwercman YL. Epidemiology of male reproductive disorders. In: De Groot LJ, Beck-Peccoz P, Chrousos G, et al., editors. Endotext. South Dartmouth: MDText.com; 2000.
105. Goeminne PC, Dupont LJ. The sinusitis-infertility syndrome: Young’s saint, old devil. Eur Respir J. 2010;35(3):698.
106. Goldstein M, Gilbert BR, Dicker AP, Dwosh J, Gnecco C. Microsurgical inguinal varicocelectomy with delivery of the testis: an artery and lymphatic sparing technique. J Urol. 1992;148(6): 1808–11.
107. Gonzalez-Merino E, Hans C, Abramowicz M, Englert Y, Emiliani S. Aneuploidy study in sperm and preimplantation embryos from nonmosaic 47,XYY men. Fertil Steril. 2007;88(3):600–6.
108. Gorelick JI, Goldstein M. Loss of fertility in men with varicocele. Fertil Steril. 1993;59(3):613–6.
109. Grady RW, Mitchell ME, Carr MC. Laparoscopic and histologic evaluation of the inguinal vanishing testis. Urology. 1998;52(5):866–9.
110. Grangeia A, Carvalho F, Fernandes S, Silva J, Sousa M, Barros A. A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens. Fertil Steril. 2005;83(2):448–51.
111. Griveau JF, Renard P, Le Lannou D. Superoxide anion production by human spermatozoa as a part of the ionophore-induced acrosome reaction process. Int J Androl. 1995;18(2):67–74.
112. Groth KA, Skakkebaek A, Host C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome – a clinical update. J Clin Endocrinol Metab. 2013;98(1):20–30.
113. Guichard C, Harricane MC, Lafitte JJ, Godard P, Zaegel M, Tack V, Lalau G, Bouvagnet P. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet. 2001;68(4):1030–5.
114. Hadziselimovic F. Cryptorchidism, its impact on male fertility. Eur Urol. 2002;41(2):121–3.
115. Hadziselimovic F, Herzog B. Importance of early postnatal germ cell maturation for fertility of cryptorchid males. Horm Res. 2001;55(1):6–10.
116. Hallen M, Westerdahl J, Nordin P, Gunnarsson U, Sandblom G. Mesh hernia repair and male infertility: a retrospective register study. Surgery. 2012;151(1):94–8.
117. Handelsman DJ, Conway AJ, Boylan LM, Turtle JR. Young’s syndrome. Obstructive azoospermia and chronic sinopulmonary infections. N Engl J Med. 1984;310(1):3–9.
118. Handelsman DJ, Strasser S, McDonald JA, Conway AJ, McCaughan GW. Hypothalamic-pituitary-testicular function in end-stage non-alcoholic liver disease before and after liver transplantation. Clin Endocrinol (Oxf). 1995;43(3):331–7.
119. Harkonen K, Viitanen T, Larsen SB, Bonde JP, Lahdetie J. Aneuploidy in sperm and exposure to fungicides and lifestyle factors. ASCLEPIOS. A European Concerted Action on Occupational Hazards to Male Reproductive Capability. Environ Mol Mutagen. 1999;34(1):39–46.
120. Heaton ND, Pryor JP. Vasa aplasia and cystic fibrosis. Br J Urol. 1990;66(5):538–40.
121. Hegarty PK, Mushtaq I, Sebire NJ. Natural history of testicular regression syndrome and consequences for clinical management. J Pediatr Urol. 2007;3(3):206–8.
122. Hendin BN, Kolettis PN, Sharma RK, Thomas AJ, Jr., Agarwal A. Varicocele is associated with elevated spermatozoal reactive oxygen species production and diminished seminal plasma antioxidant capacity. J Urol. 1999;161(6):1831–4.
123. Hendry WF, A’Hern RP, Cole PJ. Was Young’s syndrome caused by exposure to mercury in childhood? BMJ. 1993;307(6919):1579–82.
124. Hendry WF, Hughes L, Scammell G, Pryor JP, Hargreave TB. Comparison of prednisolone and placebo in subfertile men with antibodies to spermatozoa. Lancet. 1990;335(8681):85–8.
125. Heyns CF. The gubernaculum during testicular descent and maldescent. Urol Clin N Am. 1982;9:315–25.
126. Heyns CF, Human HJ, De Klerk DP. Hyperplasia and hypertrophy of the gubernaculum during testicular descent in the fetus. J Urol. 1986;135(5):1043–7.
127. Heyns CF, Human HJ, Werely CJ, De Klerk DP. The glycosaminoglycans of the gubernaculum during testicular descent in the fetus. J Urol. 1990;143(3):612–7.
128. Hirsch IH, Abdel-Meguid TA, Gomella LG. Postsurgical outcomes assessment following varicocele ligation: laparoscopic versus subinguinal approach. Urology. 1998;51(5):810–5.
129. Hirsh A, Williams C, Williamson B. Young’s syndrome and cystic fibrosis mutation delta F508. Lancet. 1993;342(8863):118.
130. Hofny ER, Ali ME, Abdel-Hafez HZ, Kamal Eel D, Mohamed EE, Abd El-Azeem HG, Mostafa T. Semen parameters and hormonal profile in obese fertile and infertile males. Fertil Steril. 2010; 94(2):581–4.
131. Hook EB, Hamerton JL. The frequency of chromosome abnormalities detected in consecutive newborn studies-differences between studies-results by sex and by severity of phenotypic involvement. In: Hook EB, Porter IH, editors. Population cytogenetics. New York: Academic; 1977. p. 63–79.
132. Hopps CV, Goldstein M, Schlegel PN. The diagnosis and treatment of the azoospermic patient in the age of intracytoplasmic sperm injection. Urol Clin North Am. 2002;29(4):895–911.
133. Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nusslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med. 2006; 174(2):120–6.
134. Huhtaniemi I, Alevizaki M. Mutations along the hypothalamic-pituitary-gonadal axis affecting male reproduction. Reprod Biomed Online. 2007;15(6):622–32.
135. Hutson JM. A biphasic model for the hormonal control of testicular descent. Lancet. 1985;2 (8452):419–21.
136. Hutson JM, Balic A, Nation T, Southwell B. Cryptorchidism. Semin Pediatr Surg. 2010;19(3): 215–24.
137. Hutson JM, Hasthorpe S, Heyns CF. Anatomical and functional aspects of testicular descent and cryptorchidism. Endocr Rev. 1997;18(2):259–80.
138. Hutson JM, Southwell BR, Li R, Lie G, Ismail K, Harisis G, Chen N. The regulation of testicular descent and the effects of cryptorchidism. Endocr Rev. 2013;34(5):725–52.
139. Ichioka K, Kohei N, Okubo K, Nishiyama H, Terai A. Obstructive azoospermia associated with chronic sinopulmonary infection and situs inversus totalis. Urology. 2006;68(1):204 e205–207.
140. Isaiah IN, Nche BT, Nwagu IG, Nnanna, II. Current studies on bacterospermia the leading cause of male infertility: a protege and potential threat towards mans extinction. N Am J Med Sci. 2011; 3(12):562–4.
141. Jarvi K, Zielenski J, Wilschanski M, Durie P, Buckspan M, Tullis E, Markiewicz D, Tsui LC. Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet. 1995; 345(8964):1578.
142. Jensen MS, Toft G, Thulstrup AM, Henriksen TB, Olsen J, Christensen K, Bonde JP. Cryptorchidism concordance in monozygotic and dizygotic twin brothers, full brothers, and half-brothers. Fertil Steril. 2010;93(1):124–9.
143. Joesbury KA, Edirisinghe WR, Phillips MR, Yovich JL. Evidence that male smoking affects the likelihood of a pregnancy following IVF treatment: application of the modified cumulative embryo score. Hum Reprod. 1998;13(6):1506–13.
144. Josso N, Briard ML. Embryonic testicular regression syndrome: variable phenotypic expression in siblings. J Pediatr. 1980;97(2):200–4.
145. Jungwirth A, Giwercman A, Tournaye H, Diemer T, Kopa Z, Dohle G, Krausz C, European Association of Urology Working Group on Male I. European Association of Urology guidelines on Male Infertility: the 2012 update. Eur Urol. 2016;62(2):324–32.
146. Kalichman SC, Di Berto G, Eaton L. Human immunodeficiency virus viral load in blood plasma and semen: review and implications of empirical findings. Sex Transm Dis. 2008;35(1):55–60.
147. Kamischke A, Baumgardt A, Horst J, Nieschlag E. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl. 2003;24(1):41–8.
148. Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, Mielnik A, Kleiman S, Yavetz H, Krause W, Kupker W, Johannisson R, Schulze W, Weidner W, Barros A, Vogt PH. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod. 2001;7(10):987–94.
149. Kaplan E, Shwachman H, Perlmutter AD, Rule A, Khaw KT, Holsclaw DS. Reproductive failure in males with cystic fibrosis. N Engl J Med. 1968;279(2):65–9.
150. Kartagener M. Zur pathogene der bronkiectasein:bronkiectasein bei situs viscerum inversus. Beitr Klin Tuberk. 1933;82:489.
151. Kaymakoglu S, Okten A, Cakaloglu Y, Boztas G, Besisik F, Tascioglu C, Yalcin S. Hypogonadism is not related to the etiology of liver cirrhosis. J Gastroenterol. 1995;30(6):745–50.
152. Kerem B, Kerem E. The molecular basis for disease variability in cystic fibrosis. Eur J Hum Genet. 1996;4(2):65–73.
153. Khera M, Lipshultz LI. Evolving approach to the varicocele. Urol Clin North Am. 2008;35(2): 183–9, viii.
154. Kheradmand AR, Javadneia AH. Efficacy of hemodialysis and renal transplantation on reproductive function in men with end stage renal disease. Transplant Proc. 2003;35(7):2718–9.
155. Kilgallon SJ, Simmons LW. Image content influences men’s semen quality. Biol Lett. 2005;1(3): 253–5.
156. Kim IW, Khadilkar AC, Ko EY, Sabanegh ES, Jr. 47,XYY Syndrome and Male Infertility. Rev Urol. 2013;15(4):188–96.
157. Kim SK, Yoon YD, Park YS, Seo JT, Kim JH. Involvement of the Fas-Fas ligand system and active caspase-3 in abnormal apoptosis in human testes with maturation arrest and Sertoli cell-only syndrome. Fertil Steril. 2007;87(3):547–53.
158. Klesert TR, Otten AD, Bird TD, Tapscott SJ. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet. 1997;16(4):402–6.
159. Kolstad HA, Bisanti L, Roeleveld N, Bonde JP, Joffe M. Time to pregnancy for men occupationally exposed to styrene in several European reinforced plastics companies. Asclepios. Scand J Work Environ Health. 1999;25 Suppl 1:66–9; discussion 68–76.
160. Koyama T, Nonomura K, Ameda K, Kakizaki H, Matsugase Y, Shinno Y, Kanno T, Yamashita T, Murakumo M, Koyanagi T. Laparoscopic evaluation and the management of the nonpalpable testis. Diagn Ther Endosc. 1997;4(2):69–74.
161. Kraus MR, Schafer A, Bentink T, Scheurlen M, Weissbrich B, Al-Taie O, Seufert J. Sexual dysfunction in males with chronic hepatitis C and antiviral therapy: interferon-induced functional androgen deficiency or depression? J Endocrinol. 2005;185(2):345–52.
162. Krausz C. Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab. 2011;25(2):271–85.
163. Krausz C, Degl’Innocenti S. Y chromosome and male infertility: update, 2006. Front Biosci. 2006;11:3049–61.
164. Krausz C, Forti G, McElreavey K. The Y chromosome and male fertility and infertility. Int J Androl. 2003;26(2):70–5.
165. Krausz C, Hoefsloot L, Simoni M, Tuttelmann F. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology. 2014;2(1):5–19.
166. Kumagai J, Hsu SY, Matsumi H, Roh JS, Fu P, Wade JD, Bathgate RA, Hsueh AJ. INSL3/Leydig insulin-like peptide activates the LGR8 receptor important in testis descent. J Biol Chem. 2002;277(35):31283–6.
167. Landefeld CS, Schambelan M, Kaplan SL, Embury SH. Clomiphene-responsive hypogonadism in sickle cell anemia. Ann Intern Med. 1983;99(4):480–3.
168. Lauwerys R, Roels H, Genet P, Toussaint G, Bouckaert A, De Cooman S. Fertility of male workers exposed to mercury vapor or to manganese dust: a questionnaire study. Am J Ind Med. 1985; 7(2):171–6.
169. Le Lannou D, Jezequel P, Blayau M, Dorval I, Lemoine P, Dabadie A, Roussey M, Le Marec B, Legall JY. Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young’s syndrome): a genetic approach. Hum Reprod. 1995;10(2):338–41.
170. Lee IP, Dixon RL. Effects of mercury on spermatogenesis studied by velocity sedimentation cell separation and serial mating. J Pharmacol Exp Ther. 1975;194(1):171–81.
171. Lee PA, Coughlin MT. The single testis: paternity after presentation as unilateral cryptorchidism. J Urol. 2002;168(4 Pt 2):1680–2; discussion 1682–3.
172. Lee PA, Coughlin MT, Bellinger MF. Paternity and hormone levels after unilateral cryptorchidism: association with pretreatment testicular location. J Urol. 2000;164(5):1697–701.
173. Lerda D, Rizzi R. Study of reproductive function in persons occupationally exposed to 2,4-dichlorophenoxyacetic acid (2,4-D). Mutat Res. 1991;262(1):47–50.
174. Lim AS, Fong Y, Yu SL. Analysis of the sex chromosome constitution of sperm in men with a 47, XYY mosaic karyotype by fluorescence in situ hybridization. Fertil Steril. 1999;72(1):121–3.
175. Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. Am J Hum Genet. 2003;73(4):849–62.
176. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001;293(5531):864–7.
177. Loane M, Dolk H, Kelly A, Teljeur C, Greenlees R, Densem J. Paper 4: EUROCAT statistical monitoring: identification and investigation of ten year trends of congenital anomalies in Europe. Birth Defects Res A Clin Mol Teratol. 2011;91 Suppl 1:S31–43.
178. Lohi S, Lohi O, Vierula M, Maki M, Toppari J. Coeliac disease autoantibodies in seminal plasma from cases with screen-detected coeliac disease. Scand J Gastroenterol. 2009;44(4):509–11.
179. Lorusso F, Palmisano M, Chironna M, Vacca M, Masciandaro P, Bassi E, Selvaggi Luigi L, Depalo R. Impact of chronic viral diseases on semen parameters. Andrologia. 2010;42(2):121–6.
180. Lu S, Cui Y, Li X, Zhang H, Liu J, Kong B, Cai F, Chen ZJ. Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens. Fertil Steril. 2014;101(5):1255–60.
181. Lue TF. Physiology of penile erection and pathophysiology of erectile dysfunction. In: Wein AJ, Kavoussi LR, Partin AW, Peters CA, editors. Campbell-Walsh urology. vol. 1. Philadelphia: Elsevier; 2016. p. 612–42.
182. Luppa PB, Thaler M, Schulte-Frohlinde E, Schreiegg A, Huber U, Metzger J. Unchanged andro-gen-binding properties of sex hormone-binding globulin in male patients with liver cirrhosis. Clin Chem Lab Med. 2006;44(8):967–73.
183. Lysiak JJ, Turner SD, Nguyen QA, Singbartl K, Ley K, Turner TT. Essential role of neutrophils in germ cell-specific apoptosis following ischemia/reperfusion injury of the mouse testis. Biol Reprod. 2001;65(3):718–25.
184. Ma X, Dong Y, Matzuk MM, Kumar TR. Targeted disruption of luteinizing hormone beta-subunit leads to hypogonadism, defects in gonadal steroidogenesis, and infertility. Proc Natl Acad Sci U S A. 2004;101(49):17294–9.
185. ʹ untranslated region of the gene. Science. 1992;255(5049):1253–5.
186. Mahmoud A, Comhaire F. Systemic causes of male infertility. In: Schill WB, Comhaire FH, Hargreave TB, editors. Andrology for the clinician. Berlin/Heidelberg/New York: Springer; 2006. p. 57–62.
187. Mamoulakis C, Antypas S, Sofras F, Takenaka A, Sofikitis N. Testicular Descent. Hormones (Athens). 2015;14(4):515–30.
188. Mamoulakis C, Demetriadis D, Antypas S, Sofikitis N. Seasonality of cryptorchidism and hypospadias in Greece: epidemiological relationships. J Androl. 2002;March/April(Suppl):37.
189. Mamoulakis C, Georgiou I, Dimitriadis F, Tsounapi P, Giannakis I, Chatzikyriakidou A, Antypas S, Sofras F, Takenaka A, Sofikitis N. Genetic analysis of the human Insulin-like 3 gene: absence of mutations in a Greek paediatric cohort with testicular maldescent. Andrologia. 2014;46(9): 986–96.
190. Mamoulakis C, Georgiou I, Dimitriadis F, Tsounapi P, Koukos S, Antypas S, Tzortzakakis D, Sofras F, Takenaka A, Sofikitis N. Screening for Y chromosome microdeletions in childhood: lack of evidence for a direct association with testicular maldescent. Andrologia. 2013a;45(6):409–16.
191. Mamoulakis C, Kaponis A, Georgiou J, Giannakis D, Antypas S, Tsambalas S, Giannakopoulos X, Miyagawa I, Sofikitis N. Mammalian testicular descent and maldescent; implications in fertility potential. In: Colpi GM, editor. Male infertility today. vol. 4. Milan: Italian Andrological Society; 2004. p. 63–137.
192. Mamoulakis C, Sofikitis N, Tsounapi P, Vlachopoulou E, Chatzikyriakidou A, Antypas S, Tzortzakakis D, Sofras F, Takenaka A, Georgiou I. The (TAAAA)n polymorphism of sex hormone-binding globulin gene is not associated with testicular maldescent. Andrologia. 2013b;45(1):40–5.
193. Mamoulakis C, Tzortzakakis D, Sofras F. Cryptorchidism. In: Sakellaris G, editor. Essentials in pediatric urology. India: Research Signpost; 2012.
194. Massart A, Lissens W, Tournaye H, Stouffs K. Genetic causes of spermatogenic failure. Asian J Androl. 2012;14(1):40–8.
195. Massart F, Saggese G. Sex steroidal targets & genetic susceptibility to idiopathic cryptorchidism. Pediatr Endocrinol Rev. 2009;6(4):481–90.
196. Mastrogiacomo I, De Besi L, Zucchetta P, Serafini E, Gasparotto ML, Marchini P, Pisani E, Dean P, Chini M. Effect of hyperprolactinemia and age on the hypogonadism of uremic men on hemodialysis. Arch Androl. 1984;12(2–3):235–42.
197. Masuda H, Inamoto T, Azuma H, Katsuoka Y, Tawara F. [Successful testicular sperm extraction in an azoospermic man with postpubertal mumps orchitis]. Hinyokika Kiyo. 2011;57(9):529–30.
198. Matsuda T, Horii Y, Yoshida O. Unilateral obstruction of the vas deferens caused by childhood inguinal herniorrhaphy in male infertility patients. Fertil Steril. 1992;58(3):609–13.
199. Matthews GJ, Matthews ED, Goldstein M. Induction of spermatogenesis and achievement of pregnancy after microsurgical varicocelectomy in men with azoospermia and severe oligoasthe-nospermia. Fertil Steril. 1998;70(1):71–5.
200. McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Natl Acad Sci U S A. 1993;90(8):3368–72.
201. McGregor AJ, Mason HJ. Chronic occupational lead exposure and testicular endocrine function. Hum Exp Toxicol. 1990;9(6):371–6.
202. McLachlan RI, Rajpert-De Meyts E, Hoei-Hansen CE, de Kretser DM, Skakkebaek NE. Histological evaluation of the human testis – approaches to optimizing the clinical value of the assessment: mini review. Hum Reprod. 2007;22(1):2–16.
203. Meistrich ML. Potential genetic risks of using semen collected during chemotherapy. Hum Reprod. 1993;8(1):8–10.
204. Meistrich ML, M.E. vB. Radiation sensitivity of the human testis. Adv Radiat Biol. 1990;14:227–68.
205. Melmed S. Update in pituitary disease. J Clin Endocrinol Metab. 2008;93(2):331–8.
206. Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet. 1985;21(3):493–506.
207. Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrezet MP, Ferec C. Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet. 1995;56(1):272–7.
208. Merry C, Sweeney B, Puri P. The vanishing testis: anatomical and histological findings. Eur Urol. 1997;31(1):65–7.
209. Meschede D, Dworniczak B, Behre HM, Kliesch S, Claustres M, Nieschlag E, Horst J. CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles. Am J Hum Genet. 1997;61(5):1200–2.
210. Mickle J, Milunsky A, Amos JA, Oates RD. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod. 1995;10(7):1728–35.
211. Milunsky A, Milunsky J. Genetic disorders and the fetus: diagnosis, prevention and treatment. Chichester: Wiley; 2010.
212. Morel F, Roux C, Bresson JL. Sex chromosome aneuploidies in sperm of 47,XYY men. Arch Androl. 1999;43(1):27–36.
213. Moretti E, Federico MG, Giannerini V, Collodel G. Sperm ultrastructure and meiotic segregation in a group of patients with chronic hepatitis B and C. Andrologia. 2008;40(5):286–91.
214. Mulhall JP, Reijo R, Alagappan R, Brown L, Page D, Carson R, Oates RD. Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod. 1997;12(3):503–8.
215. Mylonakis E, Koutkia P, Grinspoon S. Diagnosis and treatment of androgen deficiency in human immunodeficiency virus-infected men and women. Clin Infect Dis. 2001;33(6):857–64.
216. Nachtigall LB, Boepple PA, Pralong FP, Crowley WF, Jr. Adult-onset idiopathic hypogonadotropic hypogonadism – a treatable form of male infertility. N Engl J Med. 1997;336(6):410–5.
217. Naffah J. [Familial testicular regression syndrome]. Bull Acad Natl Med. 1989;173(6):709–14; discussion 705–714.
218. Nakagawa K, Yamano S, Kamada M, Maegawa M, Tokumura A, Irahara M, Saito H. Sperm-immobilizing antibodies suppress an increase in the plasma membrane fluidity of human spermatozoa. Fertil Steril. 2004;82 Suppl 3:1054–8.
219. Navarro-Costa P. Sex, rebellion and decadence: the scandalous evolutionary history of the human Y chromosome. Biochim Biophys Acta. 2012;1822(12):1851–63.
220. Navarro-Costa P, Goncalves J, Plancha CE. The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum Reprod Update. 2010;16(5): 525–42.
221. Nieschlag E. Andrology at the end of the twentieth century: from spermatology to male reproductive health. Inaugural Address at the VIth International Congress of Andrology, Salzburg, 25 May 1997. Int J Androl. 1997;20(3):129–31.
222. Nieschlag E, Behre HM, Wieacker P, Meschede D, Kamischke A, Kliesch S. Disorders at the testicular level. In: Nieschlag E, Behre HM, Nieschlag S, editors. Andrology. Male reproductive health and dysfunction. Berlin/Heidelberg: Springer; 2010. p. 193–238.
223. Oates RD. The natural history of endocrine function and spermatogenesis in Klinefelter syndrome: what the data show. Fertil Steril. 2012;98(2):266–73.
224. Oates RD, Amos JA. The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl. 1994;15(1):1–8.
225. Ohl DA, Naz RK. Infertility due to antisperm antibodies. Urology. 1995;46(4):591–602.
226. Omu AE, al-Qattan F, Ismail AA, al-Taher S, al-Busiri N. Relationship between unexplained infertility and human leukocyte antigens and expression of circulating autogeneic and allogeneic antisperm antibodies. Clin Exp Obstet Gynecol. 1999;26(3–4):199–202.
227. Osborne LR, Lynch M, Middleton PG, Alton EW, Geddes DM, Pryor JP, Hodson ME, Santis GK. Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. Hum Mol Genet. 1993;2(10):1605–9.
228. Ozturk H, Tander B, Aydin A, Okumus Z, Cetinkursun S. The effects of chemical sympathectomy on testicular injury in varicocele. BJU Int. 2001;87(3):232–4.
229. Paick J, Kim SH, Kim SW. Ejaculatory duct obstruction in infertile men. BJU Int. 2000;85(6): 720–4.
230. Pajarinen J, Laippala P, Penttila A, Karhunen PJ. Incidence of disorders of spermatogenesis in middle aged finnish men, 1981–91: two necropsy series. BMJ. 1997;314(7073):13–8.
231. Pajarinen JT, Karhunen PJ. Spermatogenic arrest and ‘Sertoli cell-only’ syndrome – common alcohol-induced disorders of the human testis. Int J Androl. 1994;17(6):292–9.
232. Papparella A, Zamparelli M, Cobellis G, Amici G, Saggiomo G, Parmeggiani P, Fioretti GP. Laparoscopy for nonpalpable testis: is inguinal exploration always necessary when the cord structures exit the inguinal ring? Pediatr Endosu Innov Tech. 1999;3:29–33.
233. Pasqualotto FF, Sundaram A, Sharma RK, Borges E, Jr., Pasqualotto EB, Agarwal A. Semen quality and oxidative stress scores in fertile and infertile patients with varicocele. Fertil Steril. 2008; 89(3):602–7.
234. Pauli EM, Legro RS, Demers LM, Kunselman AR, Dodson WC, Lee PA. Diminished paternity and gonadal function with increasing obesity in men. Fertil Steril. 2008;90(2):346–51.
235. Peces R, Venegas JL. [Seminal vesicle cysts and infertility in autosomal dominant polycystic kidney disease]. Nefrologia. 2005;25(1):78–80.
236. Pena JE, Thornton MH, Jr., Sauer MV. Reversible azoospermia: anabolic steroids may profoundly affect human immunodeficiency virus-seropositive men undergoing assisted reproduction. Obstet Gynecol. 2003;101(5 Pt 2):1073–5.
237. Peng J, Yuan Y, Cui W, Zhang Z, Gao B, Song W, Xin Z. Causes of suspected epididymal obstruction in Chinese men. Urology. 2012;80(6):1258–61.
238. Perez-Palacios G, Medina M, Ullao-Aguirre A, Chavez BA, Villareal G, Dutrem MT, Cahill LT, Wachtel S. Gonadotropin dynamics in XX males. J Clin Endocrinol Metab. 1981;53(2): 254–7.
239. Pirgon O, Dundar BN. Vanishing testes: a literature review. J Clin Res Pediatr Endocrinol. 2012; 4(3):116–20.
240. Plotzker ED, Rushton HG, Belman AB, Skoog SJ. Laparoscopy for nonpalpable testes in childhood: is inguinal exploration also necessary when vas and vessels exit the inguinal ring? J Urol. 1992;148(2 Pt 2):635–7; discussion 638.
241. Poretsky L, Can S, Zumoff B. Testicular dysfunction in human immunodeficiency virus-infected men. Metabolism. 1995;44(7):946–53.
242. Prem AR, Punekar SV, Kalpana M, Kelkar AR, Acharya VN. Male reproductive function in uraemia: efficacy of haemodialysis and renal transplantation. Br J Urol. 1996;78(4):635–8.
243. Prillaman HM, Turner TT. Rescue of testicular function after acute experimental torsion. J Urol. 1997;157(1):340–5.
244. Pusch H. [Environmental factors on male fertility]. Fortschr Med. 1996;114(14):172–4.
245. Radpour R, Gourabi H, Gilani MA, Dizaj AV, Rezaee M, Mollamohamadi S. Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens. Mol Hum Reprod. 2006;12(11):717–21.
246. Ramanujam LN, Liao WX, Roy AC, Ng SC. Association of molecular variants of luteinizing hormone with male infertility. Hum Reprod. 2000;15(4):925–8.
247. Rave-Harel N, Madgar I, Goshen R, Nissim-Rafinia M, Ziadni A, Rahat A, Chiba O, Kalman YM, Brautbar C, Levinson D, et al. CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am J Hum Genet. 1995;56(6): 1359–66.
248. Raviv G, Mor Y, Levron J, Shefi S, Zilberman D, Ramon J, Madgar I. Role of transrectal ultrasonography in the evaluation of azoospermic men with low-volume ejaculate. J Ultrasound Med. 2006;25(7):825–9.
249. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S, van der Veen F, Page DC, Rozen S. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet. 2003;35(3):247–51.
250. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, Page DC, Rozen S. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet. 2002;71(4):906–22.
251. Ridgway PF, Shah J, Darzi AW. Male genital tract injuries after contemporary inguinal hernia repair. BJU Int. 2002;90(3):272–6.
252. Rietschel P, Corcoran C, Stanley T, Basgoz N, Klibanski A, Grinspoon S. Prevalence of hypogonadism among men with weight loss related to human immunodeficiency virus infection who were receiving highly active antiretroviral therapy. Clin Infect Dis. 2000;31(5):1240–4.
253. Rives N, Milazzo JP, Miraux L, North MO, Sibert L, Mace B. From spermatocytes to spermatozoa in an infertile XYY male. Int J Androl. 2005a;28(5):304–10.
254. Rives N, Mousset-Simeon N, Mazurier S, Mace B. Primary flagellar abnormality is associated with an increased rate of spermatozoa aneuploidy. J Androl. 2005b;26(1):61–9.
255. Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2013;381 (9863):333–42.
256. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126(4):746–59.
257. Rose SS. An investigation into sterility after lumbar ganglionectomy. Br Med J. 1953;1:247–50.
258. Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Fritsche E, Elliott DJ, Laippala P, Ahola AL, McNay D, Harrison RF, Hughes B, Barrett T, Bailey DM, Mehmet D, Jequier AM, Hargreave TB, Kao SH, Cummins JM, Barton DE, Cooke HJ, Wei YH, Wichmann L, Poulton J, Jacobs HT. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet. 2001;29(3):261–2.
259. Rowe PJ, Comhaire FH, Hargreave TB, Mahmoud AMA. WHO manual for the standardized investigation, diagnosis and management of the infertile male. Cambridge: Cambridge University Press; 2000.
260. Rowley MJ, Leach DR, Warner GA, Heller CG. Effect of graded doses of ionizing radiation on the human testis. Radiat Res. 1974;59(3):665–78.
261. Rozanski TA, Wojno KJ, Bloom DA. The remnant orchiectomy. J Urol. 1996;155(2):712–13; discussion 714.
262. Rueffer U, Breuer K, Josting A, Lathan B, Sieber M, Manzke O, Grotenhermen FJ, Tesch H, Bredenfeld H, Koch P, Nisters-Backes H, Wolf J, Engert A, Diehl V. Male gonadal dysfunction in patients with Hodgkin’s disease prior to treatment. Ann Oncol. 2001;12(9):1307–11.
263. Ruiz-Pesini E, Lapena AC, Diez-Sanchez C, Perez-Martos A, Montoya J, Alvarez E, Diaz M, Urries A, Montoro L, Lopez-Perez MJ, Enriquez JA. Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet. 2000;67(3):682–96.
264. Rybar R, Prinosilova P, Kopecka V, Hlavicova J, Veznik Z, Zajicova A, Rubes J. The effect of bacterial contamination of semen on sperm chromatin integrity and standard semen parameters in men from infertile couples. Andrologia. 2012;44 Suppl 1:410–8.
265. Sabanegh EJ, Agarwal IA. Male infertility. In: Wein AJ, editor. CAMPBELL-WALSH urology. vol. 1. Philadelphia: Saunders, an imprint of Elsevier; 2012. p. 616–47.
266. Sachdeva K, Saxena R, Majumdar A, Chadha S, Verma IC. Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants. Genet Test Mol Biomarkers. 2011;15(5):307–12.
267. Safarinejad MR. Evaluation of semen quality, endocrine profile and hypothalamus-pituitary-testis axis in male patients with homozygous beta-thalassemia major. J Urol. 2008;179(6):2327–32.
268. Sagel J, Distiller LA, Morley JE, Isaacs H, Kay G, Van Der Walt A. Myotonia dystrophica: studies on gonadal function using luteinizing hormone-releasing hormone (LRH). J Clin Endocrinol Metab. 1975;40(6):1110–3.
269. Salonen I, Pakarinen P, Huhtaniemi I. Effect of chronic ethanol diet on expression of gonadotropin genes in the male rat. J Pharmacol Exp Ther. 1992;260(2):463–7.
270. Sarkar PS, Paul S, Han J, Reddy S. Six5 is required for spermatogenic cell survival and spermio-genesis. Hum Mol Genet. 2004;13(14):1421–31.
271. Sartorius GA, Handelsman DJ. Testicular dysfunction in systemic diseases. In: Nieschlag E, Behre HM, Nieschlag S, editors. Andrology. Male reproductive health and dysfunction. Berlin/Heidelberg: Springer; 2010. p. 339–64.
272. Sauer MV. Sperm washing techniques address the fertility needs of HIV-seropositive men: a clinical review. Reprod Biomed Online. 2005;10(1):135–40.
273. Saunders PT, Turner JM, Ruggiu M, Taggart M, Burgoyne PS, Elliott D, Cooke HJ. Absence of mDazl produces a final block on germ cell development at meiosis. Reproduction. 2003;126(5):589–97.
274. Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics. 2000;67(3):256–67.
275. Schiff J, Chan P, Li PS, Finkelberg S, Goldstein M. Outcome and late failures compared in 4 techniques of microsurgical vasoepididymostomy in 153 consecutive men. J Urol. 2005;174(2): 651–5; quiz 801.
276. Schlegel PN. Aromatase inhibitors for male infertility. Fertil Steril. 2012;98(6):1359–62.
277. Schubbert S, Shannon K, Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer. 2007;7(4):295–308.
278. Schulze W, Thoms F, Knuth UA. Testicular sperm extraction: comprehensive analysis with simultaneously performed histology in 1418 biopsies from 766 subfertile men. Hum Reprod. 1999;14 Suppl 1:82–96.
279. Selby DM. Sexual maldevelopment syndromes. In: Stocker JT, Dehner L, editors. Pediatric pathology. Philadelphia: JB Lippincott; 1992. p. 117–59.
280. Serefoglu EC, McMahon CG, Waldinger MD, Althof SE, Shindel A, Adaikan G, Becher EF, Dean J, Giuliano F, Hellstrom WJ, Giraldi A, Glina S, Incrocci L, Jannini E, McCabe M, Parish S, Rowland D, Segraves RT, Sharlip I, Torres LO. An evidence-based unified definition of lifelong and acquired premature ejaculation: report of the second International Society for Sexual Medicine Ad Hoc Committee for the Definition of Premature Ejaculation. J Sex Med. 2014;11(6):1423–41.
281. Sharma H, Mavuduru RS, Singh SK, Prasad R. Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers. Mol Hum Reprod. 2014;20(9):827–35.
282. Shefi S, Levron J, Nadu A, Raviv G. Male infertility associated with adult dominant polycystic kidney disease: a case series. Arch Gynecol Obstet. 2009;280(3):457–60.
283. Shibahara H, Shigeta M, Inoue M, Hasegawa A, Koyama K, Alexander NJ, Isojima S. Diversity of the blocking effects of antisperm antibodies on fertilization in human and mouse. Hum Reprod. 1996;11(12):2595–9.
284. Shimizu S, Saito M, Dimitriadis F, Kinoshita Y, Shomori K, Satoh I, Satoh K. Protective effect of ischaemic post-conditioning on ipsilateral and contralateral testes after unilateral testicular ischaemia-reperfusion injury. Int J Androl. 2011;34(3):268–75.
285. Siddiq FM, Sigman M. A new look at the medical management of infertility. Urol Clin North Am. 2002;29(4):949–63.
286. Silber SJ, Van Steirteghem AC, Devroey P. Sertoli cell only revisited. Hum Reprod. 1995;10(5): 1031–32.
287. Silva CA, Borba E, Cocuzza M, Carvalho J, Bonfä E. Autoimmune orchitis. In: Shoenfeld YCC, Gershwin ME, editors. Diagnostic criteria in autoimmune diseases. California: Springer Science; 2008. p. 281–4.
288. Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, Kamischke A, Carani C, Meschede D, Behre HM, Horst J, Nieschlag E. Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril. 1997;67(3):542–7.
289. Simoni M, Tuttelmann F, Gromoll J, Nieschlag E. Clinical consequences of microdeletions of the Y chromosome: the extended Munster experience. Reprod Biomed Online. 2008;16(2):289–303.
290. Skakkebaek NE, Rajpert-De Meyts E, Main KM. Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod. 2001;16(5):972–8.
291. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S, Page DC. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003;423 (6942):825–37.
292. Smit M, Romijn JC, Wildhagen MF, Veldhoven JL, Weber RF, Dohle GR. Decreased sperm DNA fragmentation after surgical varicocelectomy is associated with increased pregnancy rate. J Urol. 2010;183(1):270–4.
293. Smith NM, Byard RW, Bourne AJ. Testicular regression syndrome – a pathological study of 77 cases. Histopathology. 1991;19(3):269–72.
294. Sofikitis N, Dritsas K, Miyagawa I, Koutselinis A. Anatomical characteristics of the left testicular venous system in man. Arch Androl. 1993a;30(2):79–85.
295. Sofikitis N, Miyagawa I. Experimental models for the study of varicocele: a selected review. Jpn J Fertil Steril. 1993b;38(1):168–77.
296. Sofikitis N, Miyagawa I, Dimitriadis D, Zavos P, Sikka S, Hellstrom W. Effects of smoking on testicular function, semen quality and sperm fertilizing capacity. J Urol. 1995;154(3):1030–4.
297. Sofikitis N, Miyagawa I, Zavos PM. Re: should the testicular artery be preserved at varicocelectomy? J Urol. 1994;151(5):1355.
298. Sofikitis N, Miyagawa I, Zavos PM, Inaga S, Iino A, Toda T, Harada T, Mio Y, Terakawa N. Acrosin profiles of human spermatozoa recovered from the new Sperm Prep II filtration column. Tohoku J Exp Med. 1992a;166(4):451–7.
299. Sofikitis N, Stavrou S, Skouros S, Dimitriadis F, Tsounapi P, Takenaka A. Mysteries, Facts, and Fiction in Varicocele Pathophysiology and Treatment. E U R O P E A N U R O L O G Y S U P P L E M E N T S. 2014;13:89–99.
300. Sofikitis N, Takahashi C, Nakamura I, Hirakawa S, Miyagawa I. Surgical repair of secondary right varicocele in rats with primary left varicocele: effects on fertility, testicular temperature, spermatogenesis, and sperm maturation. Arch Androl. 1992b;28(1):43–52.
301. Sokol RZ. Endocrinology of male infertility: evaluation and treatment. Semin Reprod Med. 2009;27(2):149–58.
302. Soler JM, Previnaire JG, Plante P, Denys P, Chartier-Kastler E. Midodrine improves orgasm in spinal cord-injured men: the effects of autonomic stimulation. J Sex Med. 2008;5(12):2935–41.
303. Sotolongo JR, Jr. Immunological effects of vasectomy. J Urol. 1982;127(6):1063–6.
304. Speed RM, Faed MJ, Batstone PJ, Baxby K, Barnetson W. Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man. Hum Genet. 1991;87(4):416–20.
305. Spires SE, Woolums CS, Pulito AR, Spires SM. Testicular regression syndrome: a clinical and pathologic study of 11 cases. Arch Pathol Lab Med. 2000;124(5):694–8.
306. Steigman CK, Sotelo-Avila C, Weber TR. The incidence of spermatic cord structures in inguinal hernia sacs from male children. Am J Surg Pathol. 1999;23(8):880–5.
307. Stochholm K, Juul S, Gravholt CH. Diagnosis and mortality in 47,XYY persons: a registry study. Orphanet J Rare Dis. 2010;5:15.
308. Storm D, Redden T, Aguiar M, Wilkerson M, Jordan G, Sumfest J. Histologic evaluation of the testicular remnant associated with the vanishing testes syndrome: is surgical management necessary? Urology. 2007;70(6):1204–6.
309. Stouffs K, Lissens W, Tournaye H, Haentjens P. What about gr/gr deletions and male infertility? Systematic review and meta-analysis. Hum Reprod Update. 2011;17(2):197–209.
310. Stuppia L, Gatta V, Calabrese G, Guanciali Franchi P, Morizio E, Bombieri C, Mingarelli R, Sforza V, Frajese G, Tenaglia R, Palka G. A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. Hum Genet. 1998;102(5):566–70.
311. Sykiotis GP, Hoang XH, Avbelj M, Hayes FJ, Thambundit A, Dwyer A, Au M, Plummer L, Crowley WF, Jr., Pitteloud N. Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes. J Clin Endocrinol Metab. 2010a; 95(6):3019–27.
312. Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF, Jr., Pitteloud N. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci U S A. 2010b;107(34): 15140–4.
313. Tekgül S, Dogan HS, Erdem E, Hoebeke P, Kocvara R, Nijman JM, Radmayr C, Silay MS, Stein R, Undre S. EAU guidelines on paediatric urology. 31th EAU Annual Congress, Munich; 2016.
314. Tilford CA, Kuroda-Kawaguchi T, Skaletsky H, Rozen S, Brown LG, Rosenberg M, McPherson JD, Wylie K, Sekhon M, Kucaba TA, Waterston RH, Page DC. A physical map of the human Y chromosome. Nature. 2001;409(6822):943–5.
315. Toppari J, Kaleva M. Maldescendus testis. Horm Res. 1999;51(6):261–9.
316. Torra R, Sarquella J, Calabia J, Marti J, Ars E, Fernandez-Llama P, Ballarin J. Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2008;3(3):790–3.
317. Toshimori K. Maturation of mammalian spermatozoa: modifications of the acrosome and plasma membrane leading to fertilization. Cell Tissue Res. 1998;293(2):177–87.
318. Toth A. Male infertility due to sulphasalazine. Lancet. 1979;2(8148):904.
319. Tournaye H, Liu J, Nagy PZ, Camus M, Goossens A, Silber S, Van Steirteghem AC, Devroey P. Correlation between testicular histology and outcome after intracytoplasmic sperm injection using testicular spermatozoa. Hum Reprod. 1996;11(1):127–32.
320. Tsounapi P, Saito M, Dimitriadis F, Kitatani K, Kinoshita Y, Shomori K, Takenaka A, Satoh K. The role of K ATP channels on ischemia-reperfusion injury in the rat testis. Life Sci. 2012; 90(17–18):649–56.
321. Tsounapi P, Saito M, Dimitriadis F, Shimizu S, Kinoshita Y, Shomori K, Satoh I, Satoh K. Protective effect of sivelestat, a neutrophil elastase inhibitor, on ipsilateral and contralateral testes after unilateral testicular ischaemia-reperfusion injury in rats. BJU Int. 2011;107(2): 329–36.
322. Turek PJ. Male infertility. In: Tanagho EA, McAninch JW, editors. Smith’s general urology. New York: McGraw-Hill; 2008. p. 684–716.
323. Turner TT, Tung KS, Tomomasa H, Wilson LW. Acute testicular ischemia results in germ cell-specific apoptosis in the rat. Biol Reprod. 1997;57(6):1267–74.
324. UK_Testicular_Cancer_Study_Group. Aetiology of testicular cancer: association with congenital abnormalities, age at puberty, infertility, and exercise. United Kingdom Testicular Cancer Study Group. BMJ. 1994a;308(6941):1393–9.
325. UK_Testicular_Cancer_Study_Group. Social, behavioural and medical factors in the aetiology of testicular cancer: results from the UK study. UK Testicular Cancer Study Group. Br J Cancer. 1994b;70(3):513–20.
326. Umapathy E, Simbini T, Chipata T, Mbizvo M. Sperm characteristics and accessory sex gland functions in HIV-infected men. Arch Androl. 2001;46(2):153–8.
327. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis. 2007;2:4.
328. Van Savage JG. Avoidance of inguinal incision in laparoscopically confirmed vanishing testis syndrome. J Urol. 2001;166(4):1421–4.
329. Vanhoorne M, Comhaire F, De Bacquer D. Epidemiological study of the effects of carbon disulfide on male sexuality and reproduction. Arch Environ Health. 1994;49(4):273–8.
330. Vazquez-Levin MH, Kupchik GS, Torres Y, Chaparro CA, Shtainer A, Bonforte RJ, Nagler HM. Cystic fibrosis and congenital agenesis of the vas deferens, antisperm antibodies and CF-genotype. J Reprod Immunol. 1994;27(3):199–212.
331. Vazquez-Levin MH, Marin-Briggiler CI, Veaute C. Antisperm antibodies: invaluable tools toward the identification of sperm proteins involved in fertilization. Am J Reprod Immunol. 2014;72(2): 206–18.
332. Villegas J, Schulz M, Soto L, Sanchez R. Bacteria induce expression of apoptosis in human spermatozoa. Apoptosis. 2005;10(1):105–10.
333. Vine MF. Smoking and male reproduction: a review. Int J Androl. 1996;19(6):323–37.
334. Visser L, Westerveld GH, Korver CM, van Daalen SK, Hovingh SE, Rozen S, van der Veen F, Repping S. Y chromosome gr/gr deletions are a risk factor for low semen quality. Hum Reprod. 2009;24(10):2667–73.
335. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Grone HJ, Jung A, Engel W, Haidl G. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet. 1996;5(7):933–43.
336. von Eckardstein S, Simoni M, Bergmann M, Weinbauer GF, Gassner P, Schepers AG, Nieschlag E. Serum inhibin B in combination with serum follicle-stimulating hormone (FSH) is a more sensitive marker than serum FSH alone for impaired spermatogenesis in men, but cannot predict the presence of sperm in testicular tissue samples. J Clin Endocrinol Metab. 1999;84(7): 2496–501.
337. Walsh TJ, Smith JF. Male infertility. In: McAninch JW, Lue TF, editors. Smith & Tanagho’s general urology. New York: McGraw-Hill; 2013. p. 687–719.
338. Walsh TJ, Turek PJ. Partial ejaculatory duct obstruction: new approaches to diagnosis and treatment. Contemp Urol. 2006;18:48.
339. Wang C, Baker HW, Burger HG, De Kretser DM, Hudson B. Hormonal studies in Klinefelter’s syndrome. Clin Endocrinol (Oxf). 1975;4(4):399–411.
340. Wang Z, Milunsky J, Yamin M, Maher T, Oates R, Milunsky A. Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Hum Reprod. 2002;17(8):2066–72.
341. Warrell DA. Oxford textbook of medicine: sections 18–33. Oxford: Oxford University Press; 2005.
342. Welsh MJ, Tsui LC, Boat TF, Beaudet AL. Cystic fibrosis. In: Striver CL, Beaudet AL, Sly D, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 1995. p. 3799–876.
343. Wibowo E, Johnson TW, Wassersug RJ. Infertility, impotence, and emasculation – psychosocial contexts for abandoning reproduction. Asian J Androl. 2016;18(3):403–8.
344. Wieacker P. Mechanisms of dysfunction and pathology. Disorders of prenatal sexual development. In: Schill WB, Comhaire FH, Hargreave TB, editors. Andrology for the clinician. Berlin/ Heidelberg/New York: Springer; 2006. p. 305–13.
345. Winters S. Male hypogonadism. In: Melmed S, editor. Male reproductive function. Norwell: Kluwer; 1999. p. 119–38.
346. Wong EC, Ferguson KA, Chow V, Ma S. Sperm aneuploidy and meiotic sex chromosome configurations in an infertile XYY male. Hum Reprod. 2008;23(2):374–8.
347. Wright JE. The atrophic testicular remnant. Pediatr Surg Int. 1986;1:229–31.
348. Xu WM, Chen J, Chen H, Diao RY, Fok KL, Dong JD, Sun TT, Chen WY, Yu MK, Zhang XH, Tsang LL, Lau A, Shi QX, Shi QH, Huang PB, Chan HC. Defective CFTR-dependent CREB activation results in impaired spermatogenesis and azoospermia. PLoS One. 2011;6(5):e19120.
349. Yang X, Sun Q, Yuan P, Liang H, Wu X, Lai L, Zhang Y. Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens. Fertil Steril. 2015;104(5):1268–75 e1261–1262.
350. Zenteno-Ruiz JC, Kofman-Alfaro S, Mendez JP. 46,XX sex reversal. Arch Med Res. 2001;32(6): 559–66.
351. Zhou-Cun A, Yang Y, Zhang SZ, Zhang W, Lin L. Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia. Yi Chuan Xue Bao. 2006;33(2):111–6.
352. Zielenski J, Patrizio P, Corey M, Handelin B, Markiewicz D, Asch R, Tsui LC. CFTR gene variant for patients with congenital absence of vas deferens. Am J Hum Genet. 1995;57(4):958–60.