NR0B1 and Primary amenorrhea: 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).