CYP21A2 and classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: As this variant lies outside typical regions covered by Sanger sequencing, we recommend comprehensive sequencing of the entire CYP21A2 gene for patients exhibiting clinical and hormonal signs of 21-hydroxylase deficiency, particularly when there is a mismatch between Sanger- or MLPA-obtained genotypes and phenotypes.