title: Review of genetic and environmental factors leading to hypospadias.
abstract: Hypospadias is one of the most common congenital malformations, affecting about 4-6 males per 1000 male births, and ranging in severity from a urethral meatus that is slightly off-center to a meatus in the perineal area. Over the past three decades its prevalence may have increased due to changes in reporting of mild cases and/or increased survival of low birth weight infants due to improved neonatal care. However, despite the increasing numbers of males with hypospadias, the overall etiology remains unclear and likely multifactorial in nature. The purpose of this review article is to provide a comprehensive overview of the various factors implicated in hypospadias etiology, including genetic and environmental factors. In addition, we list syndromes in which hypospadias is a relatively common association and delineate the areas that require further investigation in an effort to understand this condition.
authors.affiliation: Center for Endocrinology, Diabetes, and Metabolism, Children's Hospital Los Angeles, 4650 Sunset Blvd, #61, Los Angeles, CA 90027, USA. Electronic address: eshih@chla.usc.edu.
authors.forename: Erin M
authors.initials: EM
authors.lastname: Shih
authors.affiliation: Medical Genetics Institute, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
mesh_terms: D004777:Environment; D006801:Humans; D007021:Hypospadias / Q000209:etiology* / Q000235:genetics; D008297:Male; D012307:Risk Factors
keywords: Environmental factors; Genetics; Hypospadias; Low birth weight infants; Placental insufficiency; Syndromes