Document Detail


Heredity of hypospadias and the significance of low birth weight.
MedLine Citation:
PMID:  11832761     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: We analyzed a large group of patients with hypospadias regarding familial aggregation, phenotype, twin rate and ethnic origin and assessed the correlation of low birth weight with hypospadias. MATERIALS AND METHODS: We mailed questionnaires to 2,503 boys operated on for hypospadias in Sweden asking for additional cases of hypospadias in the family, the number of brothers in the nuclear family, and birth weight of the boys with hypospadias and their brothers. RESULTS: Of the boys 7% reported 1 or more additional family members with hypospadias. The birth weight of the boys with hypospadias was significantly lower (p = 5 x 10-13) than the birth weight of their unaffected brothers. Phenotyping of 676 individuals revealed glandular hypospadias in 53%, penile forms in 39%, penoscrotal or perineal variants in 6% and cleaved prepuce as the only manifestation in 2%. There were 50% more twins than expected compared to the general population and established zygosity in 83% (67% monozygotic, 33% dizygotic). Non-Swedish ethnicity was noted in 22% of the subjects, a third of whom were from Middle Eastern countries. CONCLUSIONS: We present data on heredity, birth weight, phenotype and ethnic origin in a large group of patients with hypospadias. The finding of additional members with hypospadias in 7% of the families supports the concept that genetic factors are involved in the pathogenesis. The strong association with low birth weight may be explained by genetic and environmental factors.
Authors:
Louise Fredell; Ingrid Kockum; Einar Hansson; Staffan Holmner; Lars Lundquist; Göran Läckgren; Jörgen Pedersen; Arne Stenberg; Gunnar Westbacke; Aneta Nordenskjöld
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of urology     Volume:  167     ISSN:  0022-5347     ISO Abbreviation:  J. Urol.     Publication Date:  2002 Mar 
Date Detail:
Created Date:  2002-02-08     Completed Date:  2002-02-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0376374     Medline TA:  J Urol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1423-7     Citation Subset:  AIM; IM    
Affiliation:
Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
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MeSH Terms
Descriptor/Qualifier:
Birth Weight*
Humans
Hypospadias / epidemiology,  genetics*,  physiopathology
Male
Pedigree
Phenotype
Registries
Sweden / epidemiology

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