1. Merry C, Sweeney B, Puri P (1997) The vanishing testis: anatomical and histological findings. Eur Urol 31:65-7

2. Smith NM, Byard RW, Bourne AJ (1991) Testicular regression syndrome – a pathological study of 77 cases. Histopathology 19:269-72

3. Davenport M, Brain C, Vandenberg C, Zappala S, Duffy P, Ransley PG, Grant D (1995) The use of the hCG stimulation test in the endocrine evaluation of cryptorchidism. Br J Urol 76:790-794

4. Lee MM, Donahoe PK, Silverman BL, Hasegawa T, Hasegawa Y, Gustafson ML, Chang Y, MacLaughlin DT (1997) Measurements of serum Müllerian inhibiting substance in the evaluation of children with nonpalpable gonads. N Engl J Med 336:1480-1486

5. Misra M, MacLaughlin DT, Donahoe PK, Lee MM (2002) Measurement of Mullerian inhibiting substance facilitates management of boys with microphallus and cryptorchidism. J Clin Endocrinol Metab 87:3598-602

6. Nieschlag E, Nieschlag S, Behre HM (1993) Lifespan and testosterone. Nature 366:215

7. Kremer H, Kraaij R, Toledo SP, Post M, Fridman JB, Hayashida CY, van Reen M, Milgrom E, Ropers HH, Mariman E, Themmen APN, Brunner HG (1995) Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet 9:160-4

8. Laue L, Wu SM, Kudo M, Hsueh AJ, Cutler Jr GB, Griffin JE, Wilson JD, Brain C, Berry AC, Grant DB (1995) A nonsense mutation of the luteinizing hormone receptor gene in Leydig cell hypoplasia. Hum Mol Gen 4:1429-1433

9. Laue L, Wu SM, Kudo M, Bourdony CJ, Cutler GB, Hsueh AJW, Chan WY (1996) Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia. Mol Endocrinol 10:987-997

10. Misrahi M, Meduri G, Pissard S, Bouvattier C, Beau I, Loosfelt H, Jolivet A, Rappaport R, Milgrom E, Bougneres P (1997) Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor. J Clin Endocrinol Metab 82:2159-65

11. Themmen APN (1998) A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. Mol Endocrinol 12:775-784

12. Themmen AP, Verhoef-Post M (2002) LH receptor defects. Semin Reprod Med 20:199-204

13. Latronico AC, Anasti J, Arnhold IJP, Rapaport R, Menodonca BB, Bloise W, Castro M, Tsigos C, Chrousos GP (1996) Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone receptor gene. New Engl J Med 334:507-512

14. Latronico AC, Chai Y, Arnhold IJP, Liu X, Mendonca BB, Segaloff DL (1998) A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor. Mol Endocrinol 12:442-450

15. Martens JWM, Verhoef-Post M, Abelin N, Ezabella M, Toledo SPA, Brunner HG, Themmen APN (1998) A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. Mol Endocrinol 12:775-784

16. Martens JW, Lumbroso S, Verhoef-Post M, Georget V, Richter-Unruh A, Szarras-Czapnik M, Romer TE, Brunner HG, Themmen AP, Sultan Ch (2002) Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signalling deficiency. J Clin Endocrinol Metab 87:2506-13

17. Wu SM, Hallermeier KM, Laue L, Brain C, Berry AC, Grant DB, Griffin JE, Wilson JD, Cutler Jr GB, Chan WY (1998) Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia. Mol Endocrinol 12:1651-1660

18. Richter-Unruh A, Martens JW, Verhoef-Post M, Wessels HT, Kors WA, Sinnecker GH, Boehmer A, Drop SL, Toledo SP, Brunner HG, Themmen AP (2002) Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. Clin Endocrinol (Oxf) 56:103-12

19. Stavrou SS, Zhu YS, Cai LQ, Katz MD, Herrera C, Defillo-Ricart M, Imperato-McGinley J (1998) A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. J Clin Endocrinol Metab 83:2091-2098

20. Zenteno JC, Canto P, Kofman-Alfaro S, Mendez JP (1999) Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia. J Clin Endocrinol Metab 84:3803-6.

21. Gromoll J, Schulz A, Borta H, Gudermann T, Teerds KJ, Greschniok A, Nieschlag E, Seif FJ (2002) Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism. Eur J Endocrinol 147:597-608

22. Gromoll J, Eiholzer U, Nieschlag E, Simoni M (2000) Male hypogonadism caused by a homozygous deletion of exon 10 of the luteinizing hormone receptor. J Clin Endocrinol Metab 85:2281-2286

23. Müller T, Gromoll J, Simoni M (2003) Absence of exon 10 of the human luteinizing hormone (LH) receptor impairs LH, but not human chorionic gonadotropin action. J Clin Endocrinol Metab 88:2242-2249

24. Del Castillo EB, Trabucco A, de la Balze A (1947) Syndrome produced by absence of the germinal epithelium without impairment of the Sertoli or Leydig cells. J Clin Endocr 7:493

25. Silber SJ, Van Steirteghem AC, Devroiy P (1995) Sertoli cell only revisited (editorial). Hum Reprod 10:1031-2

26. Foresta C, Ferlin A, Garollo A, Moro E, Pistorello M, Barbaux S, Rossato (1998) High frequency of well-defined Y chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod 13:302-307

27. Schulze W, Thoms F, Knuth UA (1999) Testicular sperm extraction: comprehensive analysis with simulataneously performed histology in 1418 biopsies from 766 subfertile men. Hum Reprod 14:82-96

28. McLachlan R, Rajpert-De Meyts Ewa, Christina E Hoei-Hansen CE, de Kretser DM, Skakkebaek NE (2007) Histological evaluation of the human testis: approaches to optimizing the clinical value of the assessment Human Reproduction 22: 2-16

29. Weinbauer GF, Behr R, Bergmann M, Nieschlag E (1998) Testicular cAMP responsive element modulator (CREM) protein is expressed in round spermatids but is absent or reduced in men with round spermatid maturation arrest. Mol Hum Reprod 4:9-15

30. Nishimune Y, Tanaka H (2006) Infertility caused by polymorphisms or mutations in spermatogenesis-specific genes. J Androl. 27:326-34.

31. Tüttelmann F, Rajpert-De Meyts E, Nieschlag E, Simoni M (2007) Gene polymorphisms and male infertility – a meta-analysis and literature review. RBMOnline 15:643-58.

32. Davis-Dao CA, Tuazon ED, Sokol RZ, Cortessis VK (2007) Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis. J Clin Endocrinol Metab 92:4319-26

33. Matin-du-Pan RC, Campana A (1993) Physiopathology of spermatogenic arrest. Fertil Steril 60:937-46

34. Foresta C, Bettella A, Merico M, Garolla A, Plebani M, Ferlin A, Rossato M (2000) FSH in the treatment of oligozoospermia. Mol Cell Endocrinol 161:89-97

35. Bergmann M, Behre HM, Nieschlag E (1994) Serum FSH and testicular morphology in male infertility. Clin Endocrinol 40:133-136

36. Ballesca JL, Balasch J, Calafell JM, Alvarez R, Fabregues F, de Osaba MJ, Ascaso C, Vanrell JA (2000) Serum inhibin B determination is predictive of successful testicular sperm extraction in men with non-obstructive azoospermia. Hum Reprod 15:1734-8

37. Brugo-Olmedo S, De Vincentiis S, Calamera JC, Urrutia F, Nodar F, Acosta AA (2001) Serum inhibin B may be a reliable marker of the presence of testicular spermatozoa in patients with nonobstructive azoospermia. Fertil Steri 76:1124-9

38. von Eckardstein S, Simoni M, Bergmann M, Weinbauer GF, Gassner P, Schepers AG, Nieschlag E (1999) 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 84:2496-2501

39. Bohring C, Schroeder-Printzen I, Weidner W, Krause W (2002) Serum levels of inhibin B and follicle-stimulating hormone may predict successful sperm retrieval in men with azoospermia who are undergoing testicular sperm extraction. Fertil Steril 78:1195-8

40. Kamischke A, Behre HM, Bergmann M, Simoni M, Schafer T, Nieschlag E (1998) Recombinant human follicle stimulating hormone for treatment of male idiopathic infertility: a randomized, double-blind, placebo-controlled, clinical trial. Hum Reprod. 13:596-603

41. Klinefelter HF, Reifenstein EC, Albright F (1942) Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle stimulating hormone. J Clin Endocrinol 2:615-27

42. Bojesen A, Juul S, Gravholt CH (2003) Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 88:622-6

43. Morris JK, Alberman E, Scott C, Jacobs P (2008) Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 16:163-70

44. Ottesen AM, Garn ID, Aksglaede L, Juul A, Rajpert-De Meyts E (2007) A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene. Mol Hum Reprod 13:745-50

45. Thomas NS, Hassold TJ (2003) Aberrant recombination and the origin of Klinefelter syndrome. Hum Reprod Update 9:309-17

46. Westlander G, Ekerhovd E, Bergh C (2003) Low levels of serum inhibin B do not exclude successful sperm recovery in men with nonmosaic Klinefelter syndrome. Fertil Steril. 2003;79 Suppl 3:1680-1682

47. Kamischke A, Baumgardt A, Horst J, Nieschlag E (2003) Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 24:41-8

48. Christiansen P, Andersson AM, Skakkebaek NE (2003) Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome. J Clin Endocrinol Metab 88:888-91

49. Hasle H, Mellemgaard A, Nielsen J, Hansen J (1995) Cancer incidence in men with Klinefelter syndrome. Br J Cancer 71:416-420

50. Giordano SH, Buzdar AU, Hortobagyi GN (2002) Breast cancer in men. Ann Intern Med 137:678-87

51. Samango-Sprouse C (2001) Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): effects of incomplete X inactivation. Semin Reprod Med 19:193-202

52. Ratcliffe SG (1994) The psychological and psychiatric consequences of sex chromosome abnormalties in children, based on population studies. In Basic approaches to genetic and molecularbiolological developmental psychiatry. Poustka F (ed) Quintessenz Berlin, pp 99-122

53. Rovet J, Netley C, Bailey J, Keenan M, Stewart D (1995) Intelligence and achievement in children with extra X aneuploidy: A longitudinal perspective. Am J Med Genet (Neuropsychiatric Genetics) 60:356-363

54. Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E (2004) X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J Clin Endocrinol Metab 89:6208-17

55. Terzoli G, Simoni G, Lalatta F, Colucci G, Lobbiani A (1992) Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting. Fertil Steril 58:821-825

56. Foresta C, Galeazzi C, Bettella A, Stella M, Scandellari C (1998) High incidence of sperm sex chromosomes aneuploidies in two patients with Klinefelter's syndrome. J Clin Endocrinol Metab 83:203-205

57. Rives N, Joly G, Machy A, Simeon N, Leclerc P, Mace B (2000) Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype. Mol Hum Reprod 6:107-112

58. Bergere M, Wainer R, Nataf V, Bailly M, Gombault M, Ville Y, Selva J (2002) Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results. Hum Reprod 17:32-37

59. Morel F, Bernicot I, Herry A, Le Bris MJ, Amice V, De Braekeleer M (2003) An increased incidence of autosomal aneuploidies in spermatozoa from a patient with Klinefelter's syndrome. Fertil Steril 79 Suppl 3:1644-1646

60. Madgar I, Dor J, Weissenberg R, Raviv G, Menashe Y, Levron J (2002) Prognostic value of the clinical and laboratory evaluation in patients with nonmosaic Klinefelter syndrome who are receiving assisted reproductive therapy. Fertil Steril 77:1167-1169

61. Yamamoto Y, Sofikitis N, Mio Y, Loutradis D, Kaponis A, Miyagawa I (2002) Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter's syndrome. Hum Reprod 17:886-896

62. Staessen C, Tournaye H, Van Assche E, Michiels A, Van Landuyt L, Devroey P, Liebaers I, Van Steirteghen A (2003) PGD in 47,XXY Klinefelter’s syndrome patients. Hum Reprod Update 9:319-30

63. Nielsen J, Pelsen B, Sornensen K (1988) Follow-up of 30 Klinefelter males treated with testosterone. Clin Genet 33:262-269

64. De la Chapelle A, Koo GC, Wachtel SS (1978) Recessive sex-determining genes in human XX male syndrome. Cell 15:837-42

65. Fechner PY, Marcantonio SM, Jaswaney V, Stetten G, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD (1993) The role of the sex-determining region Y gene in the etiology of 46,XX maleness. J Clin Endocrinol Metabol 76:690-695

66. Vorona E, Zitzmann M, Gromoll J, Schuring AN, Nieschlag E (2007) Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab 92:3458-65

67. Ferguson-Smith MA, Cooke A, Affara NA, Boyd E, Tolmie JE (1990) Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genetics 84:198-202

68. Gotz MJ, Johnstone EC, Ratcliffe SG (1999) Criminality and antisocial behaviour in unselected men with sex chromosome abnormalities. Psychol Med 29:953-62

69. Witkin HA, Mednick SA, Schulsinger F, Bakkestrom E, Christiansen KO, Goodenough DR, Hirschhorn K, Lundsteen C, Owen DR, Philip J, Rubin DB, Stocking M (1976) Criminality in XYY and XXY men. Science 193:547-55

70. De Braekeleer M, Dao TM (1991) Cytogenetic studies in male infertility: a review. Hum Reprod 6:245-250

71. Egozcue S, Blanco J, Vendrell JM, Garcia F, Veiga A, Aran B, Barri PN, Vidal F, Egozcue J (2000) Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update 6:93-105

72. Egozcue J, Blanco J, Anton E, Egozcue S, Sarrate Z, Vidal F (2003) Genetic analysis of sperm and implications of severe male infertility-a review. Placenta 24 Suppl 2:S62-65

73. Martin RH, Rademaker AW, Greene C, Ko E, Hoang T, Barclay L, Chernos J (2003) A comparison of the frequency of sperm chromosome abnormalities in men with mild, moderate, and severe oligozoospermia. Biol Reprod 69:535-539

74. Martin RH, Greene C, Rademaker AW, Ko E, Chernos J (2003) Analysis of aneuploidy in spermatozoa from testicular biopsies from men with nonobstructive azoospermia. J Androl 24:100-103

75. Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counselling. New York: Oxford University Press, 1996.

76. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, van Steirteghem A, Liebaers I (1996) Cytogenetics of infertile men. Hum Reprod 11 (Suppl 4):1-26

77. Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, Peschka B, Schwanitz G, Albers P, Haidl G, van der Ven H (1997) Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum Reprod 12:2635-2640

78. Meschede D, Horst J (1997) Genetic counselling for infertile male patients. In J Androl 20(suppl. 3):20-30

79. Johnson MD (1998) Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: recommendations for genetic counseling and screening. Fertil Steril 70:397-411

80. Bonduelle M, Van Assche E, Joris H, Keymolen K, Devroey P, Van Steirteghem A, Liebaers I (2002) Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod 17:2600-2614

81. 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 (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003 423:825-837.

82. Hsu LYF (1994) Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53:108-140

83. Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34:119-24

84. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Köhn 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 (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933-943

85. Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, Kamischke A, Carani C, Meschede D, Horst J, Behre HM, Nieschlag E (1997) Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 67:542-547

86. Foresta C, Moro E, Ferlin A (2001) Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 22:226-39

87. Maurer B, Gromoll J, Simoni M, Nieschlag E (2001) Prevalence of Y chromosome microdeletions in infertile men who consulted a tertiary care medical centre: the Muenster experience. Andrologia 33:27-33

88. Simoni M, Tüttelmann F, Gromoll J, Nieschlag E (2008) Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience. RBMOnline 16:289-303

89. Noordam MJ, Repping S (2006) The human Y chromosome: a masculine chromosome. Curr Opin Genet Dev 16:225-32

90. 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 (2003) Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35:247-51

91. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279-86

92. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, Page DC, Rozen S (2002) Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 71:906-22

93. Krausz C, Forti G, McElreavey K (2003) The Y chromosome and male fertility and infertility. Int J Androl 26:70-5

94. 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 (2001) High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod 7:987-94

95. Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, Meisner L, Chandley A, Gouchy G, Jorgensen L, Havighurst T, Grosch J (1999) Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection. Mol Reprod Dev 53:27-41

96. Simoni M, Bakker E, Krausz C (2004) EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 27:240-9

97. Kamischke A, Gromoll J, Simoni M, Behre HM, Nieschlag E (1999) Transmission of a Y chromosomal deletion involving the deleted in azoospermia (DAZ) and chromodomain (CDY1) genes from father to son through intracytoplasmic sperm injection. Hum Reprod 14:2320-2322