Fig. 1

Pathologic and genetic testing of the proband. A Streak gonads are below the bilateral fallopian tubes (1.0 × 0.5 × 0.2 cm). B Pathological section analysis of proband (HE, 40 ×). Pathological evaluation revealed that the bilateral streak gonads were ovarian interstitial-like cells and fibrous-like tissue. C The pedigree with 46, XY female DSD. The arrowhead denotes the proband. Squares represent XY individuals, and circles represent XX individuals. Affected individuals are indicated as filled black symbols. Dot-filled symbols represent the unaffected heterozygous carriers. Unfilled symbols indicate clinically unaffected subjects harboring the wild-type sequence. D Schematic representation of the exome-data-filtering approach assumes dominant inheritance in the family. The following abbreviations are used: MS, missense variant; SS, splice-site variant; stop, stop-codon variant; FS, frameshift indel; and NFS, non-frameshift indel. E Sanger sequencing chromatograms exhibit that the proband (II-1) carried the c.838 T > A (p.L280M) hemizygous variant, and her mother (I-2) harbored a heterozygous variant of the CUL4B gene. F Interspecific conservation analysis of CUL4B. Color code bars are used to indicate the conservation of amino acids