Skip to main content

Genetic Aspects of Hypospadias

  • Chapter
Hypospadias Surgery
  • 1136 Accesses

Abstract

Hypospadias is one of the most common urogenital anomalies, occurring in about 3 per 1,000 male births. The heritability of the condition is well recognised, and empiric recurrence risks suggest that brothers of an affected individual have a 6–17% chance of also being affected (Angerpointer 1984; Stoll et al. 1990). Data regarding the offspring risk for an affected father are scanty but one study has indicated that the incidence of hypospadias among fathers of affected boys is increased fivefold (Angerpointer 1984).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 79.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 99.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  • Angerpointer TA: Hypospadias — genetics, epidemiology and other possible aetiological influences. Z Kinderchir. 1984; 39:112–118.

    Google Scholar 

  • Boehmer AL, Nijman RJ, Lammers BA, et al: Etiological studies of severe or familial hypospadias. J Urol. 2001; 165: 1246–1254.

    Article  PubMed  CAS  Google Scholar 

  • Brewer C, Holloway S, Zawalnyski P, et al: A chromosomal deletion map of human malformations. Am J Hum Genet. 1998;63:1153–1159.

    Article  PubMed  CAS  Google Scholar 

  • Brewer C, Holloway S, Zawalnyski P, et al: A chromosomal duplication map of malformations: Regions of suspected haplo and triplolethality — and tolerance of segmental aneuploidy — in humans. Am J Hum Genet. 1999; 64: 1702–1708.

    Article  PubMed  CAS  Google Scholar 

  • Cote GB, Petmezaki S, Bastakis N: A gene for hypospadias in a child with presumed tetrasomy 18p. Am J Med Genet. 1979;4:141–146.

    Article  PubMed  CAS  Google Scholar 

  • Elias ER, Irons MB, Hurley AD, et al: Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet. 1997;68:305–310.

    Article  PubMed  CAS  Google Scholar 

  • Fredell L, Iselius L, Collins A, et al: Complex segregation analysis of hypospadias. Hum Genet. 2002; 111:231–234.

    Article  PubMed  Google Scholar 

  • Frydmen M, Greiber C, Cohen HA: Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance. Am J Med Genet. 1985; 21:51–55.

    Article  Google Scholar 

  • Harris EL, Beaty TH.: Segregation analysis of hypospadias: a reanalysis of published pedigree data. Am J Med Genet. 1993;45:420–425.

    Article  PubMed  CAS  Google Scholar 

  • Kang S, Graham JM, Olney AH, et al: GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997; 15:266–268.

    Article  PubMed  CAS  Google Scholar 

  • McKusick VA, Bauer RL, Koop CE, et al: Hydrometrocolpos as a simply inherited malformation. JAMA. 1964; 189:816.

    Article  Google Scholar 

  • Online Mendelian Inheritance in Man (OMIM) http://www.ncbi.nlm.nih.gov/Omim

    Google Scholar 

  • Schinzel A: Human Cytogenetics Database. Oxford University Press, Oxford, 1994.

    Google Scholar 

  • Smith DW, Lemli L, Opitz JM: A newly recognized syndrome of multiple congenital anomalies. J. Pediat. 1964; 64: 210–217.

    Article  PubMed  CAS  Google Scholar 

  • Sorensen HR: Hypospadias with special reference to aetiology. Munksgaard, Copenhagen, 1953.

    Google Scholar 

  • Stoll C, Alembik Y, Roth MP, et al: Genetic and environmental factors in hypospadias. J Med Genet. 1990; 27:559–563.

    Article  PubMed  CAS  Google Scholar 

  • Stone DL, Slavotinek A, Bouffard GG, et al: Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet. 2000; 25:79–82.

    Article  PubMed  CAS  Google Scholar 

  • Tint GS, Irons M, Elias ER, et al: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994; 330:107–113.

    Article  PubMed  CAS  Google Scholar 

  • Tsur M, Linder N, Cappis S: Hypospadias in a consanguineous family (letter). Am J Med Genet. 1987; 27:487–489.

    Article  PubMed  CAS  Google Scholar 

  • Wilson GN, Oliver WJ: Further delineation of the G syndrome; a manageable genetic cause of infantile dysphagia. J Med Genet. 1988; 25:157–163.

    Article  PubMed  CAS  Google Scholar 

  • Winter R, Baraitser M: London Dysmorphology Database. Oxford University Press, Oxford.

    Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2004 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Whiteford, M. (2004). Genetic Aspects of Hypospadias. In: Hadidi, A.T., Azmy, A.F. (eds) Hypospadias Surgery. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-07841-9_4

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-07841-9_4

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-07843-3

  • Online ISBN: 978-3-662-07841-9

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics