Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome.

Abstract

Mixed gonadal dysgenesis is a rare disorder of sex development associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is characterized by a unilateral non-palpable (usually intra-abdominal) testis, a contralateral streak gonad and persistent mullerian structures. The clinical presentation can vary from a typical male to female phenotype including all degrees of cryptorchidism, labial fusion, clitoromegaly, epispadias and hypospadias. It is the second most common cause of ambiguous genitalia in the neonatal period. We report a case of Mixed Gonadal Dysgenesis with an inverted Y chromosome.