Etiology of Hypospadias:a Systematic Review of Genetic Variants
Hypospadias,characterized by abnormal position of the urethral opening,is the second most common congenital anomaly in men.Its incidence is increasing year by year,and it has become the fourth largest birth de-fect disease in China.Not only does it bring both physical and psychological distress to the patients,but its surgical repair and long-term postoperative management also occupy a large amount of social economic and medical re-sources.Hypospadias can be isolated or present as a manifestation of some syndrome.At present,there are a varie-ty of methods used to define and evaluate hypospadias,and it is imperative to develop a uniform classification standard to standardize care and surgical methods.In humans,the normal development of the penis structure has experienced an early androgen-independent stage and a late androgen-dependent sexual differentiation stage.In ad-dition to genetic changes,endocrine or external environmental influences can cause damage or loss of the basic ele-ments of penile development,which can induce hypospadias.Therefore,the disease is the result of genetic,endo-crine and environmental factors and their interaction,with genetic factors generally considered to be more important than others.Based on different population cohorts,this paper elucidates the causes of hypospadias from the per-spective of classical genetic variation,involving gene polymorphism,single nucleotide polymorphism and copy num-ber variation of genes in normal biological processes such as growth differentiation of reproductive nodules,gonadal development and testis differentiation,androgen and estrogen production,etc.Moreover,the candidate genes relat-ed to human hypospadias are summarized.This paper will provide theoretical basis for the screening,intervention and clinical treatment of hypospadias,and contribute to improve the quality of birth population.
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