Cryptorchidism - Disease or symptom?

Annales d'Endocrinologie

Volumn 75, Issue 2, 2014, Pages 72-76

  Toppari, Jorma ^a   Rodprasert, Wiwat ^a   Virtanen, Helena E ^a  

^a UNIVERSITY OF TURKU   (Finland)

Author keywords

Reproductive health; Semen; Testicular cancer; Testicular dysgenesis syndrome; Testis

Indexed keywords

FLUDROCORTISONE; GONADORELIN AGONIST; HYDROCORTISONE; INSULIN LIKE PEPTIDE 3; PEPTIDE HORMONE; TESTOSTERONE; UNCLASSIFIED DRUG; GONADORELIN; INSULIN; LEYDIG INSULIN-LIKE PROTEIN; PROTEIN;

ANDROGEN SYNTHESIS; ARTICLE; CANCER RISK; CLINICAL CLASSIFICATION; CRYPTORCHISM; DISEASE ASSOCIATION; EARLY DIAGNOSIS; EARLY INTERVENTION; ENVIRONMENTAL EXPOSURE; GENE; GENE MUTATION; GENETIC RISK; HORMONAL THERAPY; HORMONE ACTION; HUMAN; HYPOSPADIAS; INCIDENCE; INSL3 GENE; KARYOTYPING; ORCHIDOPEXY; RXFP2 GENE; SPERMATOGENESIS; TESTIS CARCINOMA; TESTIS DESCENT; TESTIS DEVELOPMENT; AGONISTS; COMPLICATION; CRYPTORCHIDISM; EMBRYOLOGY; GENETICS; INFERTILITY, MALE; MALE; NEOPLASMS, GERM CELL AND EMBRYONAL; ONSET AGE; PATHOPHYSIOLOGY; PHYSIOLOGY; RISK; TESTICULAR NEOPLASMS; TESTIS;

AGE OF ONSET; CRYPTORCHIDISM; EARLY DETECTION OF CANCER; GONADOTROPIN-RELEASING HORMONE; HUMANS; INFERTILITY, MALE; INSULIN; MALE; NEOPLASMS, GERM CELL AND EMBRYONAL; ORCHIOPEXY; PROTEINS; RISK; SPERMATOGENESIS; TESTICULAR NEOPLASMS; TESTIS; TESTOSTERONE;

EID: 84901230800     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2014.04.010     Document Type: Article

References (69)

1. Achiron R., Pinhas-Hamiel O., Zalel Y., Rotstein Z., Lipitz S. Development of fetal male gender: prenatal sonographic measurement of the scrotum and evaluation of testicular descent. Ultrasound Obstet Gynecol 1998, 11(4):242-245.
2. Rotondi M., Valenzano F., Bilancioni E., Spanò G., Giorlandino C. Prenatal measurement of testicular diameter by ultrasonography: development of fetal male gender and evaluation of testicular descent. Prenat Diagn 2001, 21(2):112-115.
3. Gaspari L., Paris F., Jandel C., Kalfa N., Orsini M., Daurès J.P., et al. Prenatal environmental risk factors for genital malformations in a population of 1442 French male newborns: a nested case-control study. Hum Reprod 2011, 26(11):3155-3162.
4. Virtanen H.E., Toppari J. Epidemiology and pathogenesis of cryptorchidism. Hum Reprod Update 2008, 14(1):49-58.
5. Virtanen H.E., Toppari J. Embryology and physiology of testicular development and descent. Pediatr Endocrinol Rev 2014, 11(Suppl. 2):206-213.
6. Hutson J.M., Southwell B.R., Li R., Lie G., Ismail K., Harisis G., et al. The Regulation of testicular descent and the effects of cryptorchidism. Endocr Rev 2013, 34(5):725-752.
7. Nef S., Parada L.F. Cryptorchidism in mice mutant for Insl3. Nat Genet 1999, 22(3):295-299.
8. Zimmermann S., Steding G., Emmen J.M., Brinkmann A.O., Nayernia K., Holstein A.F., et al. Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. Mol Endocrinol 1999, 13(5):681-691.
9. 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 2002, 11(19):2309-2318.
10. Foresta C., Zuccarello D., Garolla A., Ferlin A. Role of hormones, genes, and environment in human cryptorchidism. Endocr Rev 2008, 29(5):560-580.
11. Ars E., Lo Giacco D., Bassas L., Nuti F., Rajmil O., Ruíz P., et al. Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations. Int J Androl 2011, 34(4):333-338.
12. Nuti F., Marinari E., Erdei E., El-Hamshari M., Echavarria M.G., Ars E., et al. The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism. J Clin Endocrinol Metab 2008, 93(3):1072-1076.
13. El Houate B., Rouba H., Imken L., Sibai H., Chafik A., Boulouiz R., et al. No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population. Horm Res 2008, 70(4):236-239.
14. Barthold J.S., Kumasi-Rivers K., Upadhyay J., Shekarriz B., Imperato-Mcginley J. Testicular position in the androgen insensitivity syndrome: implications for the role of androgens in testicular descent. J Urol 2000, 164(2):497-501.
15. Hutson J.M. Testicular feminization: a model for testicular descent in mice and men. J Pediatr Surg 1986, 21(3):195-198.
16. Twesten W., Holterhus P., Sippell W.G., Morlot M., Schumacher H., Schenk B., et al. Clinical, endocrine, and molecular genetic findings in patients with 17beta-hydroxysteroid dehydrogenase deficiency. Horm Res 2000, 53(1):26-31.
17. Nicoletti A., Baldazzi L., Balsamo A., Barp L., Pirazzoli P., Gennari M., et al. SRD5A2 gene analysis in an Italian population of under-masculinized 46 XY subjects. Clin Endocrinol (Oxf) 2005, 63(4):375-380.
18. Elert A., Jahn K., Heidenreich A., Hofmann R. [The familial undescended testis]. Klin Padiatr 2003, 215(1):40-45.
19. Weidner I.S., Moller H., Jensen T.K., Skakkebaek N.E. Risk factors for cryptorchidism and hypospadias. J Urol 1999, 161(5):1606-1609.
20. Ferlin A., Zuccarello D., Zuccarello B., Chirico M.R., Zanon G.F., Foresta C. Genetic alterations associated with cryptorchidism. JAMA 2008, 300(19):2271-2276.
21. Suzuki Y., Sasagawa I., Ashida J., Nakada T., Muroya K., Ogata T. Screening for mutations of the androgen receptor gene in patients with isolated cryptorchidism. Fertil Steril 2001, 76(4):834-836.
22. Suzuki Y., Sasagawa I., Itoh K., Ashida J., Ogata T. 5Alpha-reductase type 2 genes in Japanese males do not appear to be associated with cryptorchidism. Fertil Steril 2002, 78(2):330-334.
23. Wiener J.S., Marcelli M., Gonzales E.T., Roth D.R., Lamb D.J. Androgen receptor gene alterations are not associated with isolated cryptorchidism. J Urol 1998, 160(3 Pt 1):863-865.
24. Laitinen E.M., Tommiska J., Virtanen H.E., Oehlandt H., Koivu R., Vaaralahti K., et al. Isolated cryptorchidism: no evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism. Mol Cell Endocrinol 2011, 341(1-2):35-38.
25. Jensen M.S., Toft G., Thulstrup A.M., Henriksen T.B., Olsen J., Christensen K., et al. Cryptorchidism concordance in monozygotic and dizygotic twin brothers, full brothers, and half-brothers. Fertil Steril 2010, 93(1):124-129.
26. Virtanen H.E., Adamsson A. Cryptorchidism and endocrine disrupting chemicals. Mol Cell Endocrinol 2012, 355(2):208-220.
27. State of the Science of Endocrine Disrupting Chemicals-2012 United Nations Environment Programme and the World Health Organization 2013, T. Bergman, J.J. Heindel, S. Jobling, K.A. Kidd, R.T. Zoeller (Eds.).
28. Gray L.E., Ostby J., Furr J., Wolf C.J., Lambright C., Parks L., et al. Effects of environmental antiandrogens on reproductive development in experimental animals. Hum Reprod Update 2001, 7(3):248-264.
29. Kelce W.R., Stone C.R., Laws S.C., Gray L.E., Kemppainen J.A., Wilson E.M., et al. metabolite p,p'-DDE is a potent androgen receptor antagonist. Nature 1995, 375(6532):581-585.
30. McKinnell C., Atanassova N., Williams K., Fisher J.S., Walker M., Turner K.J., et al. Suppression of androgen action and the induction of gross abnormalities of the reproductive tract in male rats treated neonatally with diethylstilbestrol. J Androl 2001, 22(2):323-338.
31. Laguë E., Tremblay J.J. Estradiol represses insulin-like 3 expression and promoter activity in MA-10 Leydig cells. Toxicology 2009, 258(2-3):101-105.
32. Emmen J.M., McLuskey A., Adham I.M., Engel W., Verhoef-Post M., Themmen A.P., et al. Involvement of insulin-like factor 3 (Insl3) in diethylstilbestrol-induced cryptorchidism. Endocrinology 2000, 141(2):846-849.
33. Bock K.W., Köhle C. Ah receptor: dioxin-mediated toxic responses as hints to deregulated physiologic functions. Biochem Pharmacol 2006, 72(4):393-404.
34. Mably T.A., Moore R.W., Peterson R.E. In utero and lactational exposure of male rats to 2,3,7,8-tetrachlorodibenzo-p-dioxin 1. Effects on androgenic status. Toxicol Appl Pharmacol 1992, 114(1):97-107.
35. Barthold J.S., Kryger J.V., Derusha A.M., Duel B.P., Jednak R., Skafar D.F. Effects of an environmental endocrine disruptor on fetal development, estrogen receptor(alpha) and epidermal growth factor receptor expression in the porcine male genital tract. J Urol 1999, 162(3 Pt 1):864-871.
36. Rider C.V., Furr J., Wilson V.S., Gray L.E. A mixture of seven antiandrogens induces reproductive malformations in rats. Int J Androl 2008, 31(2):249-262.
37. Jacobsen P.R., Christiansen S., Boberg J., Nellemann C., Hass U. Combined exposure to endocrine disrupting pesticides impairs parturition, causes pup mortality and affects sexual differentiation in rats. Int J Androl 2010, 33(2):434-442.
38. Scholze M., Silva E., Kortenkamp A. Extending the applicability of the dose addition model to the assessment of chemical mixtures of partial agonists by using a novel toxic unit extrapolation method. PLoS One 2014, 9(2):e88808.
39. Virtanen H.E., Bjerknes R., Cortes D., Jørgensen N., Rajpert-De Meyts E., Thorsson A.V., et al. Cryptorchidism: classification, prevalence and long-term consequences. Acta Paediatr 2007, 96(5):611-616.
40. Dieckmann K.P., Pichlmeier U. Clinical epidemiology of testicular germ cell tumors. World J Urol 2004, 22(1):2-14.
41. Rajpert-De Meyts E. Developmental model for the pathogenesis of testicular carcinoma in situ: genetic and environmental aspects. Hum Reprod Update 2006, 12(3):303-323.
42. Pettersson A., Richiardi L., Nordenskjold A., Kaijser M., Akre O. Age at surgery for undescended testis and risk of testicular cancer. N Engl J Med 2007, 356(18):1835-1841.
43. Walsh T.J., Dall'Era M.A., Croughan M.S., Carroll P.R., Turek P.J. Prepubertal orchiopexy for cryptorchidism may be associated with lower risk of testicular cancer. J Urol 2007, 178(4 Pt 1):1440-1446. [discussion 6].
44. Myrup C., Schnack T.H., Wohlfahrt J. Correction of cryptorchidism and testicular cancer. N Engl J Med 2007, 357(8):825-826.
45. Kollin C., Stukenborg J.B., Nurmio M., Sundqvist E., Gustafsson T., Söder O., et al. Boys with undescended testes: endocrine, volumetric and morphometric studies on testicular function before and after orchidopexy at nine months or three years of age. J Clin Endocrinol Metab 2012, 97(12):4588-4595.
46. Cortes D., Thorup J.M., Beck B.L. Quantitative histology of germ cells in the undescended testes of human fetuses, neonates and infants. J Urol 1995, 154(3):1188-1192.
47. Virtanen H.E., Cortes D., Rajpert-De Meyts E., Ritzen M., Nordenskjöld A., Skakkebaek N.E., et al. Development and descent of the testis in relation to cryptorchidism. Acta Paediatr 2007, 96(5):622-627.
48. Ritzen E.M., Bergh A., Bjerknes R., Christiansen P., Cortes D., Haugen S.E., et al. Nordic consensus on treatment of undescended testes. Acta Paediatr 2007, 96(5):638-643.
49. Hadziselimovic F., Herzog B. The importance of both an early orchidopexy and germ cell maturation for fertility. Lancet 2001, 358(9288):1156-1157.
50. Skakkebaek N.E., Rajpert-De Meyts E., Main K.M. Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod 2001, 16(5):972-978.
51. Toppari J., Virtanen H.E., Main K.M., Skakkebaek N.E. Cryptorchidism and hypospadias as a sign of testicular dysgenesis syndrome (TDS): environmental connection. Birth Defects Res A Clin Mol Teratol 2010, 88(10):910-919.
52. Dalgaard M.D., Weinhold N., Edsgärd D., Silver J.D., Pers T.H., Nielsen J.E., et al. A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation. J Med Genet 2012, 49(1):58-65.
53. Bay K., Virtanen H.E., Hartung S., Ivell R., Main K.M., Skakkebaek N.E., et al. Insulin-like factor 3 levels in cord blood and serum from children: effects of age, postnatal hypothalamic-pituitary-gonadal axis activation, and cryptorchidism. J Clin Endocrinol Metab 2007, 92(10):4020-4027.
54. Raivio T., Toppari J., Kaleva M., Virtanen H., Haavisto A.M., Dunkel L., et al. Serum androgen bioactivity in cryptorchid and noncryptorchid boys during the postnatal reproductive hormone surge. J Clin Endocrinol Metab 2003, 88(6):2597-2599.
55. Suomi A.M., Main K.M., Kaleva M., Schmidt I.M., Chellakooty M., Virtanen H.E., et al. Hormonal changes in 3-month-old cryptorchid boys. J Clin Endocrinol Metab 2006, 91(3):953-958.
56. Pyörälä S., Huttunen N.P., Uhari M. A review and meta-analysis of hormonal treatment of cryptorchidism. J Clin Endocrinol Metab 1995, 80(9):2795-2799.
57. Henna M.R., Del Nero R.G., Sampaio C.Z., Atallah A.N., Schettini S.T., Castro A.A., et al. Hormonal cryptorchidism therapy: systematic review with metanalysis of randomized clinical trials. Pediatr Surg Int 2004, 20(5):357-359.
58. Kaleva M., Arsalo A., Louhimo I., Rapola J., Perheentupa J., Henriksen K., et al. Treatment with human chorionic gonadotrophin for cryptorchidism: clinical and histological effects. Int J Androl 1996, 19(5):293-298.
59. Hjertkvist M., Lackgren G., Ploen L., Bergh A. Does HCG treatment induce inflammation-like changes in undescended testes in boys?. J Pediatr Surg 1993, 28(2):254-258.
60. Heiskanen P., Billig H., Toppari J., Kaleva M., Arsalo A., Rapola J., et al. Apoptotic cell death in the normal and cryptorchid human testis: the effect of human chorionic gonadotropin on testicular cell survival. Pediatr Res 1996, 40(2):351-356.
61. Dunkel L., Taskinen S., Hovatta O., Tilly J.L., Wikstrom S. Germ cell apoptosis after treatment of cryptorchidism with human chorionic gonadotropin is associated with impaired reproductive function in the adult. J Clin Invest 1997, 100(9):2341-2346.
62. Taran I., Elder J.S. Results of orchiopexy for the undescended testis. World J Urol 2006, 24(3):231-239.
63. Boisen K.A., Kaleva M., Main K.M., Virtanen H.E., Haavisto A.M., Schmidt I.M., et al. Difference in prevalence of congenital cryptorchidism in infants between two Nordic countries. Lancet 2004, 363(9417):1264-1269.
64. White P.C., Speiser P.W. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000, 21(3):245-291.
65. Hughes I.A., Houk C., Ahmed S.F., Lee P.A., Group L.C., Group E.C. Consensus statement on management of intersex disorders. Arch Dis Child 2006, 91(7):554-563.
66. Hack W.W., Goede J., van der Voort-Doedens L.M., Meijer R.W. Acquired undescended testis: putting the pieces together. Int J Androl 2012, 35(1):41-45.
67. Hack W.W., Meijer R.W., van der Voort-Doedens L.M., Bos S.D., Haasnoot K. Natural course of acquired undescended testis in boys. Br J Surg 2003, 90(6):728-731.
68. van der Plas E.M. The undescended testis putting the pieces together 2014, University of Amsterdam, The Netherlands.
69. Hack W.W., van der Voort-Doedens L.M., Sijstermans K., Meijer R.W., Pierik F.H. Reduction in the number of orchidopexies for cryptorchidism after recognition of acquired undescended testis and implementation of expectative policy. Acta Paediatr 2007, 96(6):915-918.