In Patient 1, targeted panel sequencing of genes associated with disorders of sex development and gonadal/adrenal dysfunction (AAAS, AR, CDKN1C, CHD7, CPOX, CYP11A1, CYP17A1, DHX37, DMRT1, GATA2, HSD17B3, HSD3B2, LGR4, MAMLD1, NR5A1, NNT, NR0B1, POLE, RSPO1, SAMD9, SOX9, SRD5A2, SRY, STAR, WNT4, and WT1), including the SAMD9 gene, was performed due to initial suspicion of as MIRAGE syndrome (12). The gene discussed is SAMD9; the disease is MIRAGE syndrome.