Cryptorchidism: Diagnosis, treatment, and long-term prognosis

Urologic Clinics of North America

Volumn 31, Issue 3, 2004, Pages 469-480

  Kolon, Thomas F ^a   Patel, Rakesh P ^a   Huff, Dale S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; BUSERELIN; CHORIONIC GONADOTROPIN; GONADORELIN; NAFARELIN;

ANAMNESIS; CLINICAL TRIAL; CRYPTORCHISM; DIAGNOSTIC IMAGING; DIAGNOSTIC PROCEDURE; EPIDEMIOLOGICAL DATA; FERTILITY; GENE FUNCTION; GONAD DEVELOPMENT; HISTOLOGY; HOMEOBOX; HORMONAL THERAPY; HORMONE ACTION; HUMAN; INCIDENCE; LABORATORY TEST; MALE GENITAL SYSTEM SURGERY; NONHUMAN; PENIS DISEASE; PHYSICAL EXAMINATION; PIGMENT DISORDER; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SCROTAL RUGAE; SCROTUM DISORDER; SURGICAL TECHNIQUE; TESTICULAR FEMINIZATION; TESTIS CANCER;

CHORIONIC GONADOTROPIN; CRYPTORCHIDISM; GONADOTROPIN-RELEASING HORMONE; HUMANS; MALE; PROGNOSIS; RECEPTORS, ANDROGEN; UROLOGIC SURGICAL PROCEDURES, MALE;

EID: 4143092518     PISSN: 00940143     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ucl.2004.04.009     Document Type: Review

References (97)

1. Scorer C.G. The descent of the testis. Arch Dis Child. 39:1964;605-609
2. Berkowitz G.S., Lapinski R.H., Dolgin S.E., et al. Prevalence and natural history of cryptorchidism. Pediatrics. 92:1993;44-49
3. Scorer C.G., Farrington H.G. Congenital deformities of the testis and epididymis. 1971;Butterworths, London
4. Chilvers C., Pike M.C., Forman D., et al. Apparent doubling of frequency of undescended testis in England and Wales in 1962-1982. Lancet. 2:1984;330
5. Johnson W.W. Cryptorchidism. JAMA. 113:1939;25
6. Simpson A.S., Laugesen M., Silva P.A., Stewart C., Walton J. The prevalence of retained testes in Dunedin. N Z Med J. 98:1985;758
7. Job J.C., Toublanc J.E., Chaussain J.L., et al. The pituitary-gonadal axis in cryptorchid infants and children. Eur J Pediatr. 146:1987;S2-S5
8. Gendrel D., Job J.C., Roger M. Reduced postnatal rise of testosterone in plasma of cryptorchid infants. Acta Endocrinol (Copenh). 89:1978;372
9. Forest M.G., Sizonenko P.C., Cathiard A.M., et al. Hypophyso-gonadal function in humans during the first year of life. I. Evidence for testicular activity in early infancy. J Clin Invest. 53:1974;819-828
10. Hadziselimovic F., Thommen L., Girard J., et al. The significance of postnatal gonadotropin surge for testicular development in normal and cryptorchid testes. J Urol. 136:1986;274-276
11. Barthold J, Regan G, Si X, Manson J, Lee P. Hormone levels in infants with cryptorchidism [abstract]. Presented at the AAP National Conference-Section on Urology, New Orleans, LA, November 2, 2003.
12. Berkowitz G.S., Lapinski R.H. Risk factors for cryptorchidism: a nested case-controlled study. Pediatr Perinat Epidemiol. 10:1996;39-51
13. Kolon TF. Cryptorchidism. In: E-medicine textbook of medicine and surgery. www.emedicine.com. Accessed June 1, 2004.
14. Lyons-Jones K. Smith's recognizable patterns of human malformations. 1997;W.B. Saunders, Philadelphia. p. 836-7
15. Yamaguchi T., Kitada S., Osada Y. Chromosomal anomalies in cryptorchidism and hypospadias. Urol Int. 47:1991;60
16. Rohtagi M., Menon P.S.N., Verma I.C., et al. The presence of intersexuality in patients with advanced hypospadias and undescended gonads. J Urol. 137:1987;263
17. Moreno Garcia M., Miranda E.B. Chromosomal anomalies in cryptorchidism and hypospadias. J Urol. 168:2002;2170-2172
18. Kolon TF, Murthy L, Gonzales ET Jr, Lamb DJ. The prevalence of intersex in hypospadias and cryptorchidism [abstract]. Presented at the AAP National Conference-Section on Urology, San Francisco, CA, October 20, 2001.
19. Kolon TF, Sutherland RW, Wiener JS, et al. Molecular analysis of the androgen receptor gene in hereditary hypospadias and cryptorchidism. In: Proceedings of the 45th Kimbrough Urological Seminar, San Francisco (CA): Tripler Army Medical Center, Honolulu, HI. 1996.
20. Kolon T.F., Wiener J.S., Lewitton M., Roth D.R., Gonzales E.T. Jr., Lamb D.J. Analysis of homeobox gene HOXA10 mutations in cryptorchidism. J Urol. 161:1999;275-280
21. Adham I.M., Emmen J.M., Engel W. The role of the testicular factor INSL3 in establishing the gonadal position. Mol Cell Endocrinol. 160:2000;11-16
22. Casella R, Kolon TF, Maduro MR, Jones EA, Lipschultz LI, Lamb DJ. Polyglutamine polymorphisms in the androgen receptor gene in patients with cryptorchidism and/or hypospadias. In: Proceedings of the 48th Kimbrough Urological Seminar, Seattle (WA): Madigan Army Medical Center, Tacoma, WA. 2001.
23. Lewis A.G., Pecha B.R., Smith E.P., Gardner B.J., Hsieh-Li H.M., Potter S.S., et al. Early orchiopexy restores fertility in the Hoxa 11 gene knockout mouse. J Urol. 170:2003;302-305
24. Cortes D., Thorup J.M., Lindenberg S. Fertility potential after unilateral orchiopexy: an age independent risk of subsequent infertility when biopsies at surgery lack germ cells. J Urol. 156:1996;217
25. Elert A., Jahn K., Heidenreich A., et al. The familial undescended testis. Kiln Pediatr. 215:2003;40-45
26. Kubota Y., Temelco C., Bathgate R.A.D., Smith K.J., Scott P., Zhao C., et al. The role of insulin 3, testosterone, mullerian inhibiting substance and relaxin in rat gubernacular growth. Mol Hum Reprod. 8:2002;900-905
27. Hutson J.M., Baker M., Terada M., Zhou B., Parton G. Hormonal control of testicular descent and the cause of cryptorchidism. Reprod Fertil Dev. 6:1994;151-156
28. Quigley C.A., DeBellis A., Marschke K.B., et al. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 16:1995;271-321
29. Marcelli M., Tilley W.D., Wilson C.D., Griffin J.E., Wilson J.D., McPhaul M.J. Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor gene protein at amino acid residue 588 causes complete androgen resistance. Mol Endocrinol. 4:1990;1105-1116
30. McPhaul M.J., Marcelli M., Zoppi S., Griffin J.E., Wilson J.D. Genetic basis of endocrine disease 4: the spectrum of mutations in the androgen receptor gene that causes androgen resistance. J Clin Endocrinol Metab. 76:1993;17-23
31. Rodien P., Mebarki F., Mowszowicz I., et al. Different phenotypes in a family with androgen insensitivity caused by the same M7801 point mutation in the androgen receptor gene. J Clin Endocrinol Metab. 61:1996;2994
32. Batch J.A., Davies H.R., Evans B.A., et al. Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. Arch Dis Child. 68:1993;453
33. Sutherland R.W., Wiener J.S., Hicks J.P., Marcelli M., Gonzales E.T., Roth D.R., et al. Androgen gene mutations are rarely associated with isolated penile hypospadias. J Urol. 156:1996;828-831
34. Allera A., Herbst M.A., Griffin J.E., et al. Mutations of the androgen receptor coding sequences are infrequent in patients with isolated hypospadias. J Clin Endocrinol Metab. 80:1995;2697
35. Wiener J.S., Marcelli M., Gonzales E.T. Jr., Roth D.R., Lamb D.L. Androgen receptor gene alterations are not associated with isolated cryptorchidism. J Urol. 160:1998;863-865
36. Edwards A., Hammond H.A., Jin L., et al. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics. 12:1992;241
37. Chamberlain N.L., Driver E.D., Miesfeld R.L. The length and location of CAG trinucleotide repeats in the androgen receptor N'terminal domain affect transactivation function. Nucleic Acids Res. 22:1994;3181
38. LaSpada A.R., Wilson E.M., Lubahn D.B., Harding A.E., Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352:1991;77-79
39. Tut T.G., Ghadessy F.J., Triforo M.A., Pinsky L., Yong E.L. Long polyglutamine tracts in the androgen receptor are associated with trans-activation, impaired sperm production and male infertility. J Clin Endocrinol Metab. 82:1997;3777-3782
40. Patrizzio P., Trounon A.O., Chen K.L., Hernandez-Hyup S., Leonard D.G.B. Larger trinucleotide repeat size in the androgen receptor gene of infertile males with extremely severe oligospermia. J Androl. 22:2001;444-448
41. Sasagawa I., Suzuki Y., Ashida J., Nakada T., Muroya K., Ogata T. CAG repeat length analysis and mutation screening of the androgen receptor gene in Japanese men with idiopathic azoospermia. J Androl. 22:2001;804-808
42. Ogata T., Muroya K., Ishii T., Suzuki Y., Nakada T., Sasagawa I. Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene. Clin Endocrinol. 54:2001;835-838
43. Sasagawa I., Suzuki Y., Tateno T., Nakada T., Mroya K., Ogata T. CAG repeat length of the androgen receptor gene in Japanese males with cryptorchidism. Mol Hum Reprod. 6:2000;973-975
44. Nef S., Parada L.F. Cryptorchidism in mice mutant for Insl3. Nat Genet. 22:1999;295-299
45. Zimmermann S., Steding G., Emmen J.M., Brinkmann A.O., et al. Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. Mol Endocrinol. 13:1999;681-691
46. Tomboc M., Lee P.A., Mitwally M.F., Schneck F.X., Bellinger M., Witchel S.F. Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. J Clin Endocrinol Metab. 85:2000;4013-4018
47. Canto P., Escudero I., Soderlund D., Nishimura E., Carranza-Lira S., Gutierrez J., et al. A novel mutation of the insulin-like 3 gene in patients with cryptorchidism. J Hum Genet. 48:2003;86-90
48. Baker L.A., Nef S., Nguyen M.T., Stapleton R., Nordenskjold A., Pohl H., et al. The insulin-3 gene: lack of a genetic basis for human cryptorchidism. J Urol. 169:2003;622
49. Overbeek P.A., Gorlov I.P., Sutherland R.W., Houston J.B., Harrison W.R., Boettger-Tong H.L., et al. A transgenic insertion causing cryptorchidism in mice. Genesis. 30:2001;26-35
50. Gorlov I.P., Kamat A., Bogatcheva N.V., Jones E., Lamb D.J., Truong A., et al. Mutations of the GREAT gene cause cryptorchidism. Hum Mol Genet. 11:2002;2309-2318
51. Kumagai J., Hsu S.Y., Matsumi H., Roh J.S., Fu P., Wade J.D., et al. INSL3/Leydig insulin-like peptide activates the LGR8 receptor important in testis descent. J Biol Chem. 277:2002;31283-31286
52. Bogatcheva N.V., Truong A., Feng S., Engel W., Adham I.M., Agoulnik A.I. GREAT/LGR8 is the only receptor for insulin-like 3 peptide. Mol Endocrinol. 17:2003;2639-2646
53. Ferlin A., Simonato M., Bartoloni L., Rizzo G., Bettella A., Dottoini T., et al. The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. J Clin Endocrinol Metab. 88:2003;4273-4279
54. Botas J. Control of morphogenesis and differentiation by Hom/HOX genes. Curr Opin Cell Biol. 5:1993;1015
55. Satokata I., Benson G., Maas R. Sexually dimorphic sterility phenotypes in Hoxa-10-deficient mice. Nature. 374:1995;460
56. Rijli F.M., Matyas R., Pellegrini M., Dierich A., Gruss P., Dolle P., et al. Cryptorchidism and homeotic transformations of spinal nerves and vertebrae in Hoxa-10 mutant mice. Proc Natl Acad Sci USA. 92:1995;8185
57. DeFoor WR, Kuan CY, Pinkerton M, Pastura P, Sheldon CA, Lewis AG. Modulation of germ cell apoptosis with a nitric oxide synthase inhibitor in a murine model of congenital cryptorchidism. Presented at the AAP National Conference-Section on Urology, New Orleans, LA, November 2, 2003.
58. Hughes I.A. Minireview: sex differentiation. Endocrinology. 142:2001;3281-3287
59. Nudell D.M., Turek P.J. Genetic causes of male infertility: current concepts. Curr Urol Rep. 1:2000;273-281
60. Gill W.B., Schumacher G.F., Bibbo M., et al. Association of diethylstilbestrol exposure in utero with cryptorchidism, testicular hypoplasia and semen abnormalities. J Urol. 122:1979;36-39
61. Rusnack S.L., Wu H.Y., Huff D.S., et al. The ascending testis and the testis undescended since birth share the same histopathology. J Urol. 168:2002;2590-2591
62. Witschi E. Migration of the germ cells of human embryos from the yolk to the primitive gonadal folds. Contrib Embryol Canegie Inst. 32:1948;67
63. Page D.C., Mosher R., Simpson E.M., et al. The sex determining region of the human Y chromosome encodes a finger protein. Cell. 51:1987;1091-1104
64. Jost A. Problems of fetal endocrinology: the gonadal and hypophyseal hormones. Rec Prog Horm Res. 8:1953b;379
65. Payne A.H., Jaffe R.B. Androgen formation from pregnenolone sulfate by fetal neonatal adult human testis. J Clin Endocrinol Metab. 40:1975;102
66. Josso N. Evolution of the mullerian inhibiting activity of the human testis. Biol Neonate. 20:1972;368-379
67. Siiteri P.K., Wilson J.D. Testosterone formation and metabolism during male sexual differentiation in the human embryo. J Clin Endocrinol Metab. 38:1974;113
68. Farrington G.H. The position and retractibility of the normal testis in childhood with reference to the diagnosis and treatment of cryptorchidism. J Pediatr Surg. 3:1968;53
69. Lamesch A. Unilateral anorchidism or monorchidism. Chirurgie. 118:1992;328-332
70. Kaefer M., Diamond D.W., Hendren H., et al. The incidence of intersexuality in children with cryptorchidism and hypospadias: stratification based on gonadal palpability and meatal position. J Urol. 162:1999;1003-1007
71. Hrebinko R.L., Bellinger M.F. The limited role of imaging techniques in managing children with undescended testes. J Urol. 150:1993;458-460
72. Davenport M., Brain C., Vandenberg C., et al. The use of the hCG stimulation test in the endocrine evaluation of cryptorchidism. Br J Urol. 76:1995;790-794
73. De Rosa M., Lupoli G., Mennitti M., et al. Congenital bilateral anorchis: clinical, hormonal and imaging study in 12 cases. Andrologia. 28:1996;281-285
74. Yeung C.K., Tam Y.H., Chan Y.L., Lee K.H., Metreweli C. A new management algorithm for impalpable testes with gadolinium-enhanced magnetic resonance angiography. J Urol. 162:1999;998-1002
75. Bigler J.A., Hardy L.M., Scott H.V. Cryptorchidism treated with gonadotropic principle. Am J Dis Child. 55:1938;273-294
76. Job J.C., Canlorbe P., Garagorri J.M., Toublanc J.E. Hormonal therapy of cryptorchidism with human chorionic gonadotropin. Urol Clin North Am. 9:1982;405-411
77. Rajfer J., Handelman D.J., Swerdloff R.S., Hurwitz R., Kaplan H., Vandergats T., et al. Hormonal therapy of cryptorchidism. N Engl J Med. 314:1986;466-470
78. Waldschmidt J., Doede T., Vygen I. The results of 9 years of experience with a combined treatment with LH-RH and HCG for cryptorchidism. Eur J Pediatr. 152:(Suppl 2):1993;S34-S36
79. Lala R., Matarazzo P., Chiabotto P., et al. Combined therapy with LHRH and HCG in cryptorchid infants. Eur J Pediatr. 152:(Suppl 2):1993;S31-S33
80. Bica D.T.G., Hadziselimovic F. Buserelin treatment of cryptorchidism: a randomized, double-blind, placebo-controlled study. J Urol. 148:1992;617-621
81. Hadziselimovic F., Girard J., Herzog B. Four years' experience with a combined hormone therapy of cryptorchidism. Z Kinderchir. 39:1984;324
82. Hadziselimovic F., Huff D., Duckett J., Herzog B., Elder J., Snyder H., et al. Long-term effect of luteinizing hormone-releasing hormone analogue (buserelin) on cryptorchid testes. J Urol. 138:1987;1043-1045
83. Huff D.S., Snyder H.M., Rusnack S.L., et al. Hormonal therapy for the subfertility of cryptorchidism. Horm Res. 55:2001;38-40
84. Hadziselimovic F., Herzog B. Treatment with a luteinizing hormone-releasing hormone analogue after successful orchiopexy markedly improves the chance of fertility later in life. J Urol. 158:1997;1193-1195
85. Gatti J.M., Cooper C.S., Kirsch A.J. Bimanual digital rectal examination for the evaluation of the nonpalpable testis. J Urol. 170:2003;207-210
86. Fowler R. Jr., Stephens F.D. The role of testicular vascular anatomy in the salvage of high undescended testes. Aust N Z J Surg. 29:1959;92
87. Koff S.A., Sethi P.S. Treatment of high undescended testes by low spermatic vessel ligation: an alternative to the Fowler-Stephens technique. J Urol. 156:1996;799-803
88. Bellinger M.F., Abromowitz H., Brantley S., Marshall G. Orchiopexy: an experimental study of the effect of surgical technique on testicular histology. J Urol. 142:1989;553-555
89. Jarow J.P. Clinical significance of intratesticular vascular anatomy. J Urol. 145:1991;777-779
90. Docimo S.G. The results of surgical therapy for cryptorchidism: a literature review and analysis. J Urol. 154:1995;1148-1152
91. Wollach Y., Shaher E., Schachter A., Dintsman M. Fertility and sexual development after bilateral orchiopexy for cryptorchidism. Isr J Med Sci. 16:1980;707
92. Mack W.S.L. Discussion on male fertility. Proc R Soc Med. 46:1953;840
93. Cromie W.J. Cryptorchidism and malignant testicular disease. Hadziselimovic F. Cryptorchidism: management and implications. 1983;83-92 Springer-Verlag, New York
94. Zdeb M.S. The probability of developing cancer. Am J Epidemiol. 106:1977;6
95. Chilvers C., Dudley N.E., Gough M.H., et al. Undescended testis: the effect of treatment and subsequent risk of subfertility and malignancy. J Pediatr Surg. 21:1986;691
96. Lee P.A., O'Leary L.A., Songer N.J., et al. Paternity after unilateral cryptorchidism: a controlled study. Pediatrics. 98:1996;676
97. Lee P.A., Coughlin M.T., Bellinger M.F. Paternity and hormone levels after unilateral cryptorchidism: association with pretreatment testicular location. J Urol. 164:2000;1697