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46 XX male is a very rare disorder of sexual differentiation presenting as an undervirilized male or with normal looking external genitalia and the absence of Y chromosome.This infant was diagnosed to be a 46XXmale based on clinical finding of microphallus, penoscrotal hypospadias, bifid scrotum, bilateral palpable gonads and karyotyping showing 46XX chromosomes.
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Author(s): Venkatesh C Vishnu Bhat B Ramachandra Rao Prakash Chand Sangeetha A Nandakumar S Jayaprakash T
46XX male, ambiguous genitalia, karyotype.