Phenotype, genotype and hormonal values in the five patients in whom novel mutations were found.

Novel mutations are displayed in bold and hormonal values are expressed in ng/ml. Values of basal 17 hydroxyprogesterone (17-OHP) and after ACTH stimulation, basal androstenedione (Δ4A), testosterone (To) and dehydroepiandrosterone sulphate (DHEA-S) are showed. *Hormonal values under treatment with 6 mg meprednisone plus 0.05 mg 9α-fluorocortisol.a: cis/trans presence of mutations is assumed.b: maternal/paternal alleles.ND: not determined. N: Normal wild type allele.