Amongst the 278 subjects who underwent CAH-X screening, 45 of them from 37 unrelated families (31 with 21-OHD and 6 others) had an excessive copy number of TNXB exon 40 (2.50–5.47, with 2.50 as the cutoff value) as measured by the digital droplet PCR assay. This evidence concerns the gene TNXB and congenital adrenal hyperplasia.