RESULTS
Whole-exome
sequencing
WES reveals the SRY gene is
negative.
SV in loss-of-function in the female pathway: WNT4, RSPO1, CTNNB1, and
INSRR. Gene variants were detected associated with 46, XX disorder of
testis development: DMRT1, and
FOG2/ZFPM2.
Variant steroid receptor
genes:
CYP17A1, STAR, SRD5A2, and AR (Table 1, Table S1and Figure 1). There are
undefined gene variants associated with congenital bone marrow failure.