Molecular diagnosis in hypospadias

Objective The aim of this study is to perform a systematic review of the principal genetic and molecular diagnostic methods for hypospadias and their usefulness. Methods A Pubmed and EMBASE search was carried out using the following MESH terms: “molecular diagnosis”, “genes”, “hypospadias”, “karyotype”, “wgs”, “fish”, “chg”, “sanger”, “microarray”, “mps”, “wes”, and “gwas”. Meta-analyses, systematic reviews, Cochrane reviews, clinical trials, narrative reviews and case series were included, between 2001 and 2016, in both Spanish and English. A total of 33 ítems were selected for review after reviewing titles, abstracts, and cross references. Results Hypospadias are the birth defect of the ventral aspect of the penis, accompanied by an ectopic location of the urethral meatus. 30% of all birth malformations in the newborns are urological malformations make up 30% of all birth malformations in newborns. Within the genetic and molecular test available for diagnosis, many are of varying usefulness. These include, among others, karyotyping, FISH, and Sanger sequencing. Conclusions Due to advances in technology, there are multiple molecular diagnosis methods that can widen the knowledge of the aetiology of hypospadias. They also allow them to be used in the everyday practice for a complete study of patients.