RESUMEN
In young members of a large family from a Greek island with a closed society, clinical and hormonal symptoms of 21-OH deficiency (CAH) were present. To discriminate those affected from those unaffected, we measured the basal and ACTH stimulated 30 values of 17-hydroxyprogesterone (17-0HP) progesterone (P) and cortisol (F) in combination with HLA-phenotypes in 25 out of 40 members of this family. The indices of the Gutai30-min assessment (17-0HP+P response to ACTH testing at 30 min), GF (F response at 30 min) and the ratio GF30/Guai30 named the Marina index were evaluated. The Marina index showed a very statistically significant difference among the three groups (p < 0.001). HLA phenotypes of the members of groups A and B showed a powerful association with B14, DR1, B7, and B35 phenotypes that were related with 21-OH/CAH. In conclusion, in our study population, a high incidence of a clinically asymptomatic form of 21-OHdef was found only after the ACTH stimulation test. The Marina index seems to be of high diagnostic value in classifying disease severity.