Authors: M Rahimi M Ghanbari Z Fazeli M Rouzrokh S Omrani R Mirfakhraie M D Omrani
Publish Date: 2016/11/15
Volume: 40, Issue: 4, Pages: 391-396
Abstract
Hypospadias is one of the most common forms of congenital malformation of the male external genitalia worldwide The ratio in the Iranian population is one in 250 live male births The conversion of testosterone to dihydrotestosterone DHT in the presence of steroid 5αreductase 2 which is encoded by SRD5A2 gene plays an important role in the normal development of the male reproductive systemWe identified two new mutations in the subgroups of affected cases including a substitution of the nucleotide T A in the codon 73 c219T A pLeu73 Ser74insHisPro and an insertion of an extra A nucleotide in the codon 77 c229insA pGly77 Additionally we performed PCR–RFLP for the two identified polymorphisms and revealed that V89L OR = 58 95 CI 38–88 p value 0001 and A49T OR = 1016 95 CI 394–2625 p value 0001 are significantly associated with hypospadias occurrence in patients Our haplotype analysis further indicated that the Leu–Ala haplotype increases risk of hypospadias conversely the Val–Ala haplotype decreases the risk of hypospadias in the studied patientsAll procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards
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