MAMLD1 Mutation and Phenotypes of Hypospadias The relationship between clinical phenotypes and mutations of MAMLD1 in children with hypospadias Yong-fen Lv, Lu-lu Cui, Pin Li* Department of Endocrinology, Shanghais Children Hospital, Shanghai Jiaotong University Acknowledgements: The work was financially supported by the key project of Shanghai municipal health bureau (2011111), youth project of Shanghai municipal health bureau，major issue subprojects of Shanghai science and technology commission (12411952408), Yangtze river delta research project of Shanghai science and technology commission (13495810300). Abstract Purpose: To verify the relationship between clinical phenotypes of hypospadias and mutations of MAMLD1. Methods: Seventy-two patients were diagnosed to be hypospadias in department of endocrinology and department of urinary surgery in our hospital. Among all the patients, 69 were with normal karyotype and enrolled as the studied group. Fifty healthy boys were employed as the controls. Peripheral Blood were collected for DNA extraction.
