The CAH-X CH-1 type is the most frequent of the three and retains a 120-bp deletion at the boundary of exon 35 and intron 35 of TNXB. CAH-X CH-2 and CAH-X CH-3 types are less frequently found in CAH patients, with CAH-X CH-2 being characterized by the variant c.12174C > G (p.Cys4058Trp), which derives from the TNXA pseudogene [7], and CAH-X CH-3, being characterized by a cluster of three mutations (p.Arg4073His, p.Asp4172Asn, and p.Ser4175Asn) also derived from the TNXA pseudogene [35]. Here, TNXB is linked to cyclic hematopoiesis.