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Heredity of hypospadias and the significance of low birth weight

Fredell, L; Kockum, I; Hansson, Eva LU ; Holmner, S; Lundquist, L; Lackgren, G; Pedersen, J; Stenberg, A; Westbacke, G and Nordenskjold, A (2002) In Journal of Urology 167(3). p.1423-1427
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
low birth weight, infant, hypospadias, genetics, phenotype, twins
in
Journal of Urology
volume
167
issue
3
pages
1423 - 1427
publisher
Lippincott Williams & Wilkins
external identifiers
  • wos:000173752900076
  • pmid:11832761
  • scopus:20244371284
ISSN
1527-3792
DOI
10.1016/S0022-5347(05)65334-7
language
English
LU publication?
yes
id
0eb97a08-1082-4520-be68-66d77ea8fd68 (old id 343383)
date added to LUP
2007-08-20 11:50:40
date last changed
2017-11-12 03:58:53
@article{0eb97a08-1082-4520-be68-66d77ea8fd68,
  abstract     = {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.},
  author       = {Fredell, L and Kockum, I and Hansson, Eva and Holmner, S and Lundquist, L and Lackgren, G and Pedersen, J and Stenberg, A and Westbacke, G and Nordenskjold, A},
  issn         = {1527-3792},
  keyword      = {low birth weight,infant,hypospadias,genetics,phenotype,twins},
  language     = {eng},
  number       = {3},
  pages        = {1423--1427},
  publisher    = {Lippincott Williams & Wilkins},
  series       = {Journal of Urology},
  title        = {Heredity of hypospadias and the significance of low birth weight},
  url          = {http://dx.doi.org/10.1016/S0022-5347(05)65334-7},
  volume       = {167},
  year         = {2002},
}