The University of Southampton
University of Southampton Institutional Repository

Complex segregation analysis of hypospadias

Fredell, Louise, Iselius, Lennart, Collins, Andy, Hansson, Einar, Holmner, Staffan, Lundquist, Lars, Läckgren, Göran, Pedersen, Jörgen, Stenberg, Arne, Westbacke, Gunnar and Nordenskjöld, Agneta (2002) Complex segregation analysis of hypospadias Human Genetics, 111, (3), pp. 231-234. (doi:10.1007/s00439-002-0799-y).

Record type: Article


Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1000 male births. It is considered a complex disorder with both genetic and environmental factors involved in the pathogenesis. Low birth weight is known to be an important risk factor for hypospadias, but several observations speak in favour of genetic factors as well. In order to delineate the relative contribution of the genetic factors behind hypospadias, we performed a complex segregation analysis of 2005 pedigrees in Sweden. The probands were ascertained through the departments of paediatric surgery and departments of plastic surgery and urology in Sweden where boys with hypospadias undergo surgery. In 7% of the ascertained families one or more additional cases of hypospadias were present. The complex segregation analysis showed a heritability of 0.99 and evidence for multifactorial inheritance. The results suggest that hypospadias might be due to monogenic effects in a small proportion of the families, but that there is a multifactorial cause for the majority of the cases.

Full text not available from this repository.

More information

Published date: September 2002


Local EPrints ID: 24703
ISSN: 0340-6717
PURE UUID: 8e9c8c66-115e-495a-805d-7695efb097bb
ORCID for Andy Collins: ORCID iD

Catalogue record

Date deposited: 03 Apr 2006
Last modified: 17 Jul 2017 16:12

Export record



Author: Louise Fredell
Author: Lennart Iselius
Author: Andy Collins ORCID iD
Author: Einar Hansson
Author: Staffan Holmner
Author: Lars Lundquist
Author: Göran Läckgren
Author: Jörgen Pedersen
Author: Arne Stenberg
Author: Gunnar Westbacke
Author: Agneta Nordenskjöld

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton:

ePrints Soton supports OAI 2.0 with a base URL of

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.