46,XX sex reversal, type 1

Common Name(s)

46,XX sex reversal, type 1

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 ({12:Lee et al., 2006}). 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 ({16: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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "46,XX sex reversal, type 1" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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