Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1986 August; 23(4): 333–337.
PMCID: PMC1049700

Aetiological factors in hypospadias.


Epidemiological and genetic variables in hypospadias were analysed during the years 1978 to 1983 in a case control study of congenital malformations in the Emilia Romagna region of northern Italy. During the observation period, in a sample of 41 078 male newborns, 168 had hypospadias giving a prevalence at birth of 4.1 in 1000 males. Hypospadias was divided into three types: type I or mild (75.0%); type II or moderate (21.4%); and type III or severe (3.6%). Coexisting malformations were found in 8.9% of cases. The heritability coefficient was 0.669. Maternal risk factors correlated with hypospadias were found to be early age at menarche, threatened abortion, and exposure to progestins. Low birth weight and shorter gestation were also correlated with hypospadias.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (639K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Chung CS, Myrianthopoulos NC. Racial and prenatal factors in major congenital malformations. Am J Hum Genet. 1968 Jan;20(1):44–60. [PubMed]
  • Czeizel A, Tóth J, Erodi E. Aetiological studies of hypospadias in Hungary. Hum Hered. 1979;29(3):166–171. [PubMed]
  • Källén B, Winberg J. An epidemiological study of hypospadias in Sweden. Acta Paediatr Scand Suppl. 1982;293:1–21. [PubMed]
  • Svensson J. Male hypospadias, 625 cases, associated malformations and possible etiological factors. Acta Paediatr Scand. 1979 Jul;68(4):587–592. [PubMed]
  • Lowry RB, Kliman MR. Hypospadias in successive generations - possible dominant gene inheritance. Clin Genet. 1976 Mar;9(3):285–288. [PubMed]
  • Bauer SB, Retik AB, Colodny AH. Genetic aspects of hypospadias. Urol Clin North Am. 1981 Oct;8(3):559–564. [PubMed]
  • Chen YC, Woolley PV., Jr Genetic studies on hypospadias in males. J Med Genet. 1971 Jun;8(2):153–159. [PMC free article] [PubMed]
  • Monteleone Neto R, Castilla EE, Paz JE. Hypospadias: an epidemiological study in Latin America. Am J Med Genet. 1981;10(1):5–19. [PubMed]
  • Aarskog D. Maternal progestins as a possible cause of hypospadias. N Engl J Med. 1979 Jan 11;300(2):75–78. [PubMed]
  • Mau G. Progestins during pregnancy and hypospadias. Teratology. 1981 Dec;24(3):285–287. [PubMed]
  • Polednak AP, Janerich DT. Maternal characteristics and hypospadias: a case-control study. Teratology. 1983 Aug;28(1):67–73. [PubMed]
  • Fallon B, Devine CJ, Jr, Horton CE. Congenital anomalies associated with hypospadias. J Urol. 1976 Nov;116(5):585–586. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group