The neonate was identified as carrying in compound heterozygosity the IVS2-13A/C > G (c.655A/C > G)/TNXA/TNXB chimera (termed CAH-X CH-1) and additionally proved to be a female and remained as such as evidenced by the MLPA analyses. The gene discussed is TNXA; the disease is congenital adrenal hyperplasia.