Non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in families from a Greek island with a closed society.
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.
Trakakis
E
E
Second Department of Obstetrics and Gynecology, University of Athens, Aretaieion University Hospital, Athens, Greece. trakakis@yahoo.gr
Chryssikopoulos
A
A
Basios
G
G
Trompoukis
P
P
Sarandakou
A
A
Spyropoulou
M
M
Salamalekis
E
E
Karanikolopoulos
P
P
Salamalekis
G
G
Skarpas
P
P
Kassanos
D
D
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics*; D000324:Adrenocorticotropic Hormone; D015331:Cohort Studies; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D006650:Histocompatibility Testing; D006801:Humans; D010375:Pedigree; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D000324:Adrenocorticotropic Hormone; D013255:Steroid 21-Hydroxylase