Cytogenetic Profile of Patients with Isolated Hypospadias in Semarang

Abstract

Back ground: Hypospadias is one of the most common anomalies among newborn boys. Most cases of hypospadias occur as an isolated defect. Cytogenetic study in patients with isolated hypospadias has not been conducted in Indonesia. Purpose: The aim of this study is to ascertain the cytogenetic profile of patients with isolated hypospadias. Methods: We retrieved a total of 44 medical records of patients with isolated hypospadias who underwent chromosome analysis in Molecular and Cytogenetics Unit of Biotechnology Laboratory, Medical Faculty of Diponegoro University during the period of January 2003 to May 2007. Results: The age at presentation of a total 44 patients ranging from 47 weeks to 15 years old with a mean 7.10 years. Meatal position was classified as anterior in15.9% of the cases, midpenile in 45.5% and posterior in 38.6%. Karyotype results of all patients were 46, XY. There was no chromosomal abnormality neither structure nor number. Conclusion: The etiology of isolated hypospadias is still obscure until now. All patients with isolated hypospadias had normal karyotype. Number of patients with isolated hypospadias tends to increase each year. Broad study including molecular genetic, endocrine and environmental is needed to find definite etiology of isolated hypospadias. Education to medical personnel about isolated hypospadias especially in primary care is very important to avoid misdiagnosis and late management.