Conclusions Although the CAH phenotype is determined by the allele that produces most of the enzyme activity and the mild non-classical (NC) phenotype should be expected, the mild P30L known to be more virilizing probably induced the classical SV phenotype in our patient.
NC and I172N groups had, however, higher academic degrees and NC patients were more often married, whereas SW and I2 splice patients were more often divorced.
No association was found between the G2019S mutation and the Mini Mental State Examination scores (MMSE), and MC patients appeared more susceptible to dyskinesia than NC patients.
Thus, the NC patients due to the homozygous V281L mutation can be detectable by the mass-screening program for CAH in Japan, and further accumulation and analysis of the NC patients should elucidate the frequency of the V281L allele in Japan.