Pediatric Surgery International

, Volume 31, Issue 6, pp 519–527 | Cite as

Genetic and environmental factors in the aetiology of hypospadias

  • Mathew George
  • Francisco J. Schneuer
  • Sarra E. Jamieson
  • Andrew J. A. HollandEmail author
Review Article


This article reviews the current evidence and knowledge of the aetiology of hypospadias. Hypospadias remains a fascinating anomaly of the male phallus. It may be an isolated occurrence or part of a syndrome or field defect. The increasing use of assisted reproductive techniques and hormonal manipulation during pregnancy may have been associated with an apparent rise in the incidence of hypospadias. Genetic studies and gene analysis have suggested some defects that could result in hypospadias. New light has also been thrown on environmental factors that could modulate candidate genes, causing altered development of the male external genitalia.


Hypospadias Aetiology Genetics Endocrine Gene deletion Gene expression 



Assisted reproductive technology


Activating transcription factor


Body mass index


Bone morphogenic protein


p p’ Dichloro diphenyl dichloroethane


p p’Dichloro diphenyl trichloroethane




Diacylglycerol kinase kappa


Dihydrocholesterol reductase


Endocrine disrupting chemicals


Oestrogen receptor 1


Oestrogen receptor 2


Fibroblast growth factor


Fibroblast growth factor


Fibroblast growth factor


Genome-wide association study


Gene environment interactions




Human chorionic gonadotrophin


Homeobox A 13


Intracytoplasmic sperm injection


Intrauterine growth retardation


In vitro fertilisation


Low birth weight


Mastermind-like domain containing 1

SF 1

Splicing factor 1


Small for gestational age


Single nucleotide polymorphisms


SRY box 9


Steroid 5 alpha reductase

SRY gene

Sex-determining region Y


Wilms tumour 1


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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Mathew George
    • 1
  • Francisco J. Schneuer
    • 2
  • Sarra E. Jamieson
    • 3
  • Andrew J. A. Holland
    • 1
    Email author
  1. 1.Douglas Cohen Department of Paediatric Surgery, The Children’s Hospital at Westmead, Discipline of Paediatrics and Child Health, Sydney Medical SchoolThe University of SydneyWestmeadAustralia
  2. 2.Northern Clinical School, Kolling Institute of Medical ResearchThe University of SydneySt LeonardsAustralia
  3. 3.Telethon Kids InstituteUniversity of Western AustraliaPerthAustralia

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