LRS detected the chimeric TNXA/TNXB CAH-X-CH1 mutation, and the results of second-generation sequencing combined with MLPA showed Exon 1, 3, 4, 6, 7 Del or Exon 1-10 Del; for the CAH-X-CH2 mutation, the results showed Exon 3 Del; for the CAH-X-CH3 mutation, the results showed Exon 1-10 Del. The gene discussed is TNXB; the disease is congenital adrenal hyperplasia.