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Cited by 157Urological Disorders and TreatmentsCongenital Anomalies and Fetal SurgerySexual Differentiation and Disorders

Heredity of hypospadias and the significance of low birth weight

FREDELL, LOUISE, KOCKUM, INGRID, HANSSON, EINAR, HOLMNER, STAFFAN, LUNDQUIST, LARS, LÄCKGREN, GÖRAN, PEDERSEN, JÖRGEN, STENBERG, ARNE +2 more·2002·Journal of Urology
DOI 10.1016/s0022-5347(05)65334-7
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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.

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Crossref · 10.1016/s0022-5347(05)65334-7

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  • Placental insufficiency, associated with intrauterine growth restriction (IUGR), is associated with abnormalities in development of the male external genitalia, and hypospadias in particular.

    “placental insufficiency, associated with intrauterine growth restriction (IUGR), is associated with abnormalities in development of the male external genitalia, and hypospadias in particular [60,61]”

    From Alternative (backdoor) androgen production and masculinization in the human fetus (2019) · cites this paper as [61]

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Authors
FREDELL, L., KOCKUM, I., HANSSON, E., HOLMNER, S., LUNDQUIST, L., LÄCKGREN, G., PEDERSEN, J., STENBERG, A., WESTBACKE, G., & NORDENSKJÖLD, A.
Affiliations
  • Karolinska University Hospital (SE)
  • From the Department of Molecular Medicine, Karolinska Institutet, and Department of Women and Child Health, Astrid Lindgren Children Hospital, Karolinska Hospital, Stockholm, Department of Pediatric Surgery, Queen Silvia Children’s Hospital, Göteborg, Department of Plastic Surgery, University Hospital of Northern Sweden, Umeå, Departments of Plastic Surgery and Urology, Örebro Medical Center Hospital, Örebro, Department of Pediatric Surgery, University Hospital, Uppsala and Department of Pediatric...
ORCID
Venue
Journal of Urology
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2002-03
Volume
167
Issue
3
Pages
1423-1427
ISSN
  • 0022-5347 (ISSN-L)
  • 1527-3792
DOI
10.1016/s0022-5347(05)65334-7
OpenAlex
W2117352016
Cited by
157
References
29
Citations by year
2026: 1 · 2025: 2 · 2024: 5 · 2023: 6 · 2022: 8 · 2021: 4 · 2020: 5 · 2019: 6 · 2018: 8 · 2017: 6 · 2016: 3 · 2015: 10 · 2014: 10 · 2013: 9 · 2012: 10
FWCI
6.55
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • The Journal of Urology (publishedVersion)
  • PubMed (publishedVersion)
  • Lund University Publications (Lund University) (submittedVersion)
Topics
  • Health Sciences › Medicine › Urology › Urological Disorders and Treatments
  • Health Sciences › Medicine › Surgery › Congenital Anomalies and Fetal Surgery
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords
hypospadias, heredity (biology), familial aggregation, low birth weight, twin birth rate, monozygotic twins, dizygotic twins, zygosity, ethnicity, genetic factors, environmental factors, congenital urogenital anomalies
MeSH terms
Birth Weight, Humans, Hypospadias, Male, Pedigree, Phenotype, Registries, Sweden

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