A Rare Case with Sex Developmental Disorder

Disorder of sex development (DSD) is defined as a congenital mismatch between sex phenotype, gonadal and sex chromosome, which mainly present with atypical genital appearance or ambiguous genitalia. It consider as a medical emergency and the cases should be evaluate immediately for detection of life threatening conditions and determination of gender.Case Report: We report a 50 days old infant with 49,XXXXY syndrome presenting with ambiguous genitalia. 49,XXXXY syndrome is a rare sex chromosome aneuploidy disorder, which represented with its “classical triad” consists of mental retardation, radioulnar synostosis and hypogonadism.