Genetic and Clinical Studies on Hypospadias

  • Agneta Nordenskjöld
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 545)


Hypospadias, one of the most common malformations in man, is characterized by an abnormal position of the urethral meatus and different degrees of ventral curvature of the penis. Hypospadias arises due to a defect in the urethral development during fetal week 8 to 16 causing the meatus to be located on the underside of the penis. Earlier disturbance of the urethral development will result in a more severe hypospadias (figure 1a and b). In severe cases the penis is curved, short and with the urethral opening in the scrotum or perineum. The most severe cases are boys born with ambiguous genitalia. The registered incidence in Sweden according to the Swedish Malformation Registry is 1:500 boys, but the malformation is probably underreported and the estimated incidence is likely to be about 1:300 (Källén and Winberg 1982).


Birth Weight Androgen Receptor Twin Pair Recurrence Risk Androgen Receptor Gene 
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Copyright information

© Springer Science+Business Media New York 2004

Authors and Affiliations

  • Agneta Nordenskjöld
    • 1
  1. 1.Department of Molecular Medicine, Karolinska InstitutetStockholmSweden

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