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.