Three adult subjects (A‐II‐1, 2, and B‐I‐2) carrying the splice site variant had lower TNX mRNA abundance as compared to the non‐EDS CAH controls, but the loss of TNX mRNA was less severe than that of a subject carrying a heterozygous CAH‐X CH‐1 chimera of TNX haploinsufficiency (Figure 3b). Here, TNXB is linked to congenital adrenal hyperplasia.