In patient DSD15 with ambiguous external genitalia, a small uterus, streak gonads on the right hand side and no gonads on the left, and primary amenorrhea, we found a gross duplication estimated to exceed 427,038 bp and involving NR0B1, CXorf21, and GK, although only 4517 bp was captured in the assay (Fig. 3a). This evidence concerns the gene GK and Primary amenorrhea.