sex reversal 46,XY type 6

sex reversal 46,XY type 6

A hereditary disorder of sex development (OMIM:613762) in which affected individuals have a 46,XY karyotype—i.e., are genotypically males, but present as phenotypically normal females.

Molecular pathology
Defects in MAP3K1 on chromosome 5q11.2, which encodes mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase, cause sex reversal 46,XY type 6.