Investigation of SHH (Sonic hedgehog) path in hypospadias genetics

ABSTRACT INVESTIGATION OF SHH (SONIC HEDGEHOG) PATH IN HYPOSPADIAS GENETICS Hypospadias is one of the most common congenital anomalies of the genital system. Hypospadias has been shown to be associated with potentially impaired gene expressions, but the cause remains largely unknown. In this study, we investigated the role of Sonic Hedgehog pathway in the etiology penile tissues and blood from hypospadias children. In this studywe chose 200 patients who were diagnosed with hipospadias and operated in the date between june 2007 and july 2017. We took tissue sample from 48 patients who were operated in the date between june 2016 and july 2017. Our control group consist of 200 patients. We chose control group from the patients whose age were in between 0-16 and also whose parents wanted them to be circumcised. Furthermore our control group were healthy and there is no pathological sign in their examination. We took tissue sample from 48 patients in the control group too. Cicumcised tissue was took during elective surgery without taking ant periurethral tissue. We study mRNA fold changes of penil tissue taken from patients with hipospadias. In this study, we found significant differences in the mRNA folds of the Sonic Hedgehog pathway genes in the hypospadiac tissues. In this study, in which tissue samples were taken from 48 patients who underwent surgery for hypospadias repair and 48 patients who were circumcised electively, the expression of Sonic Hedgehog, Patched Homolog1 and Glioma-Associated Oncogene Homolog 2 genes was shown to decrease in the genes responsible for pathway in the hypospadias group (p<0,05). We did not find any significant difference in the DNA polymorphisms of the Sonic Hedgehog, Patched Homolog 1 and Glioma-Associated Oncogene Homolog 2 genes compared to the control group in the study of blood samples from 200 patients who underwent surgery for hypospadias repair and 200 cases who were circumcised electively. The increase in the incidence of hypospadias in recent years has made it necessary to explain the developmental mechanisms of hypospadias. Molecular studies will help us to explain the role of the exogenous hormones that cause hypospadias and provide the concept of inner aspect of other male developmental disorders. Keywords: Sonic Hedgehog, Patched Homolog 1, Glioma-Associated Oncogene Homolog 2, Hypospadias, Moleculer, Genetic.