
Prenatal diagnosis of disorder of sex development (DSD) is very rare and is estimated to occur in 1∕2500 pregnancies. A group of DSDs are the 46,XX testicular DSD. Today, the incidence of 46,XX testicular DSD is estimated at 1∕20 000 newborn males. A majority of males with DSD have an unbalanced X;Y exchange involving the pseudoautosomal region, with translocation of the sex-determining region of the Y (SRY) gene onto Xp23.3. We present a rare case of very early prenatal diagnosis and management of a fetus with SRY-positive 46,XX testicular DSD.
Adult, Genetic Markers, Male, 46, XX Disorders of Sex Development, Karyotype, Sex Determination Processes, Fetus, Humans, Female, Genes, sry
Adult, Genetic Markers, Male, 46, XX Disorders of Sex Development, Karyotype, Sex Determination Processes, Fetus, Humans, Female, Genes, sry
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