In recent years, whole-exome sequencing (WES) has been performed in men with SCOS from consanguineous and non-consanguineous families, revealing several pathogenic or potentially pathogenic variants in genes, such as FANCA, FANCM, TEX15, KLHL10, DMRT1, USP26, NANOS2, TEX14, and WNK3 [3, 12–15]. The gene discussed is DMRT1; the disease is small cell osteogenic sarcoma.