From OMIM
A disorder of sex development (DSD) is a 'congenital condition in which development of chromosomal, gonadal, or anatomic sex is atypical.' 46,XX DSD is a disorder of gonadal (ovarian) development, which may be complete or partial (Lee et al., 2006). Sex-reversed 46,XX individuals can present as phenotypically normal males, as men with genital ambiguities, or as true hermaphrodites (Ahmad et al., 2012). 46,XX male sex reversal is a condition in which a phenotypically normal male has a female genotype. A 'true hermaphrodite' must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively (van Niekerk and Retief, 1981). It is a genetically heterogeneous condition. Genetic Heterogeneity of 46,XX Sex Reversal Another form of 46,XX sex reversal (SRXX2; 278850) is caused by duplication or triplication in a regulatory region upstream of the SOX9 gene (608160) on chromosome 17q24. SRXX3 (300833) is caused by duplications or deletions in the SOX3 (313430) regulatory region on chromosome Xq26. SRXX4 (617480) is caused by mutation in the NR5A1 gene (184757) on chromosome 9q33. SRXX5 (618901) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26.  http://www.omim.org/entry/400045