The affected child in our case-series was compound heterozygous for mutations in POR: the c.1370 G>A (p.R457H) variant from the mother has been reported as a pathogenic variant in multiple PORD cases, while the c.1379 C>A(p.S460Y) variant from the father has not been reported to date. The gene discussed is POR; the disease is congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency.