(Pseudohermaphrodism XY)

46,XY sexual development disorder 46XY (old name: pseudohermaphrodism XY). It is a form of hypogonadism where a female phenotype patient has a karyotype with XY-sex chromosomes but where one of the genes responsible for the differentiation of the undifferentiated embryo into a male individual at the sixth week of the embryonic development is deficient.

From a genetic point of view, we can distinguish: (SRXY - Sex Reversal XY)

-        SRXY1 [MIM 400 044]: mutation of the SRY gene (Yp11.2)

-        SRXY2 [MIM 300 018]: duplication of the NROB1 gene (Xp21.3-p21.2)

-        SRXY3 [MIM 612 965]: mutation of the NR5A1 gene (9q33)

-        SRXY4 [MIM 154 230]: deletion of the CBX2 gene (17q25)

-        SRXY5 [MIM 613 080]: mutation of the CBX2 gene (17q25)

-        SRXY6 [MIM 613 762]: mutation of the MAP3K1 gene (5q11.2)

-        SRXY7 [MIM 233 420]: mutation of the DHH gene (12q13)

-        SRXY8 [MIM 614 279]: mutation of the AKR1C2 gene (10p15)

-        SRXY9 [MIM 616 067]: mutation of the ZFPM2 gene (8q12.3)

-        SRXY10 [MIM 616 425]: deletion of the XYSR gene (17q24)

Clinical presentation:

female phenotype but absence of secondary sexual development and menstruations at puberty, fibrous gonads.

Anesthetic implications:

none

References :

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Updated: January 2020