MECP2 and Klinefelter syndrome: Table 1 shows the characteristics of previously published cases of the co-occurrence of RS and DM type 1 (2, 3, 4, 5), including our case. Most typical RS patients have pathogenic mutations in MECP2, which is located in Xq28 (1). However, only our case reported the presence of MECP2 genetic mutations. DM type 1 has been reported to be possibly associated with a variety of genetic diseases, such as Down, Turner, Noonan and Klinefelter syndromes (6).