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Sex reversal, XY, with adrenal failure

*Gene map locus 9q33
[Clinical features: 46,XY individuals; female external genitalia; presence of uterus; primary adrenal failure]

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
Nature Genetics

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Edited by Aldo Campana, December 10, 2015