Advertisement

The Reproductive System

  • Jørn Müller
  • Niels Græm

Abstract

The very complex and specific development of the genital system in male and female embryos and fetuses is under genetic and hormonal control. Recently, sex chromosomal and autosomal genes responsible for primary sex differentiation have been discovered, and effects of many hormones on the subsequent development of gonads, ducts and external genitalia are known. Abnormal sex differ-entiantion and malformations due to genetic and hormonal defects are relatively well described. Less is known about the role of environmental factors. A possible relationship between prenatal exposure to exogenous oestrogen-like substances and congenital abnormalities of the urogenital system, and infertility and testicular germ cell tumours in adult life has recently been subjected to much attention (Toppari et al. 1996).

Keywords

Congenital Adrenal Hyperplasia External Genitalia Gonadal Dysgenesis Urogenital Sinus Wolffian Duct 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Bardoni B, Zanaria E, Guioli S et al. (1994) A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nature Genet 7:497–501PubMedCrossRefGoogle Scholar
  2. Byskov AG, Høyer PE (1988) Embryology of mammalian gonads and ducts. In: Knobil E, Neill J, Ewing LL, Greenwald GS, Markert CL, Pfaff DW (eds) The physiology of reproduction. Raven Press, New York, pp. 265–302Google Scholar
  3. Chang HJ, Clark RD, Bachman H (1990) The phenotype of 45 X/46 XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 46:156–167PubMedGoogle Scholar
  4. Clements JA, Reyes FI, Winter JSD, Faiman C (1976) Studies on human sexual development. III. Fetal pituitary and serum, and aminotic fluid concentrations of LG, CG, and FSH. J Clin Endocrinol Metab 42:9–19PubMedCrossRefGoogle Scholar
  5. Coppes MJ, Huff V, Pelletier J (1993) Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1. J Pediatr 123:673–678PubMedCrossRefGoogle Scholar
  6. Foster JW, Dominguez-Steglich MA, Guioli S et al. (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525–530PubMedCrossRefGoogle Scholar
  7. Gantt PA, Byrd JR, Greenblatt RB, McDonough PG (1980) A clinical and cytogenetic study of fifteen patients with 45 X/46 XY gonadal dysgenesis. Fertil Steril 34:216–221PubMedGoogle Scholar
  8. Grumbach MM, Conte FA (1985) Disorders of sexual differentiation. In: Wilson JD, Foster DW (eds) Textbook of endocrinology, 7th edn. W.B. Saunders, Philadelphia, pp. 312–401Google Scholar
  9. Hung W, Randolph JG, Chandra R, Belman AB (1981) Gonadoblastoma in dysgenetic testis causing male pseudohermaphroditism in newborn. Urology 17:584–587PubMedCrossRefGoogle Scholar
  10. Hutson JM, Terada M, Zhou B, Williams MP (1996) Normal testicular descent and the aetiology of cryptorchidism. Adv Anat Embryol Cell Biol 132:1–56PubMedCrossRefGoogle Scholar
  11. Jackson MB, John Radcliffe Hospital Cryptorchidism Study Group (1988) The epidemiology of cryptorchidism. Horm Res 30:153–156CrossRefGoogle Scholar
  12. Jacobsen GK; Henriques UV (1992) A fetal testis with intratubular germ cell neoplasia (ITGCN). Mod Pathol.5: 547–549PubMedGoogle Scholar
  13. John Radcliffe Hospital Cryptorchidism Study Group (1988) Clinical diagnosis of cryptorchidism. Arch Dis Child 63:587–591CrossRefGoogle Scholar
  14. Josso N (1986) AntiMüllerian hormone: new perspectives for a sexist molecule. Endocr Rev 7:421–433PubMedCrossRefGoogle Scholar
  15. Kerr JB (1989) The cytology of the human testis. In: Burger H, de Kretser D (eds) The testis, 2nd edn. Raven Press, New York, pp. 197–229Google Scholar
  16. Kreidberg JA, Sariola H, Loring JM et al. (1993) WT-1 is required for early kidney development. Cell 74:679–691PubMedCrossRefGoogle Scholar
  17. Luo X, Ikeda Y, Parker JL (1995) The cell-specific nuclear receptor steroidogenic factor 1 plays multiple roles in reproductive function. Phil Trans R Soc Lond B 350:279–283CrossRefGoogle Scholar
  18. MacLean HE, Warne GL, Zajec JD (1997) Intersex disorders: shedding light on male sexual differentiation beyond SRY. Clin Endocrinol 46:101–108CrossRefGoogle Scholar
  19. McLaren A (1990) What makes a man a man? Nature 346:216–217PubMedCrossRefGoogle Scholar
  20. Moerman P, Fryn SJ-P, van der Steen K, Kleczkowska A, Lauweryn SJ (1988) The pathology of trisomy 13 syndrome. A study of 12 cases. Hum Genet 80:349–356PubMedCrossRefGoogle Scholar
  21. Morley R, Lucas A (1987) Undescended testes in low birthweight infants. Br Med J 295:753CrossRefGoogle Scholar
  22. Müller J, Skakkebaek NE (1984) Testicular carcinoma in situ in children with the androgen insensitivity (testicular feminisation) syndrome. Br Med J 288:1419–1420CrossRefGoogle Scholar
  23. Müller J, Skakkebaek NE, Ritzén M, Plöen L, Petersen KE (1985) Carcinoma in situ of the testis in children with 45 X/46 XY gonadal dysgenesis. J Pediatr 106:431–436PubMedCrossRefGoogle Scholar
  24. Müller, J., Schwartz M., Skakkebaek NE (1992) Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46 XY female. J. Clin. Endocrinol. Metab. 75:331–333PubMedCrossRefGoogle Scholar
  25. Nielsen J, Wohlert M (1991) Sex chromosome abnormalities found among 34, 910 newborn children: results from a 13-year incidence study in Århus, Denmark. In: Evan SJA, Hamerton JL, Robinson A (eds) Children and young adults with sex chromosome aneuploidy, Wiley-Liss, New York, pp. 209–223Google Scholar
  26. Reyes FI, Boroditsky RS, Winter JSD, Faiman C (1974) Studies on human sexual development. II. Fetal and maternal serum gonadotropin and sex steroid concentrations. J Clin Endocrinol Metab 38:612–617PubMedCrossRefGoogle Scholar
  27. Satge D, Jacobsen GK, Cessot F, Raffi F, Vekemans M (1996) A fetus with Down syndrome and intratubular germ cell neoplasia. Pediatr Pathol Lab Med. 16: 107–112PubMedCrossRefGoogle Scholar
  28. Simpson JL, Jirásek JE, Speroff L, Kase NG (1976) Disorders of sexual differentiation, pp 341–359 Academic Press, New YorkGoogle Scholar
  29. Sinclair AH, Berta P, Palmer MS, et al. (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240–244PubMedCrossRefGoogle Scholar
  30. Spear GS, Martin CG (1986) Fetal gonadoblastoid testicular dysplasia. Hum Pathol 17:531–533PubMedCrossRefGoogle Scholar
  31. Tiwary CM (1989) Testicular injury in breech delivery: possible implications. Urology 34:210–212PubMedCrossRefGoogle Scholar
  32. Toppari J, Larsen JC, Christiansen P et al. (1996) Male reproductive health and environmental chemicals with estrogenic effects. Environ Health Persp 104 (suppl 4): 742–747CrossRefGoogle Scholar
  33. Walker K, Gunn AJ, Gluckman PD (1990) XO/XY mosaicism in phenotypic males. Arch Dis Childh 65:891–892PubMedCrossRefGoogle Scholar
  34. Wartenberg H (1989) Differentiation and development of the testes. In: Burger H, de Kretser D (eds) The testis, 2nd edn. Raven Press, New York, pp. 67–118Google Scholar
  35. Wensing CJG (1988) The embryology of testicular descent. Horm Res 30:144–152PubMedCrossRefGoogle Scholar
  36. Zanaria E, Muscatelli F, Bardoni B et al. (1994) An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372:635–641PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag London 2001

Authors and Affiliations

  • Jørn Müller
  • Niels Græm

There are no affiliations available

Personalised recommendations