SEX REVERSAL IN A CHILD WITH DUPLICATION OF SEX REVERSING LOCUS ON THE SHORT ARM OF THE X-CHROMOSOME (XP)

We report a child with a female phenotype possessing a karyotype of 46 ,XY,13p+. The child had female external genitalia, and manifested seve re mental retardation, pulmonary atresia and multiple congenital abnor malities, Laparoscopy revealed the presence of streak gonads and Mulle rian structures, Histological examination of the gonads showed ovarian -like stroma with immature seminiferous tubules, Chromosome and gene a nalyses demonstrated Xp11.23 (or 11.3)-pter duplication and an intact sex determinating factor of Y (SRY). The findings of this case suggest that duplication of Xp causes sex reversal in the presence of SRY.