In addition to the shared syndromic features described above in all three families, both affected daughters in Family I were diagnosed with congenital adrenal hyperplasia (CAH), due to 17-alpha-hydroxylase deficiency, and were found to have a homozygous familial mutation: NM_000102.3:c.286C>T; p.(Arg96Trp) in the CYP17A1 gene (OMIM #202110) [29,30]. The gene discussed is CYP17A1; the disease is congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency.