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Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.
Original Research
Non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in families from a Greek island with a closed society
E. Trakakis1,2,*, A. Chryssikopoulos1, G. Basios2, P. Trompoukis2, A. Sarandakou3, M. Spyropoulou4, E. Salamalekis1,2, P. Karanikolopoulos2, G. Salamalekis2, P. Skarpas2, D. Kassanos1,2
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1
Second Department of Obstetrics and Gynecology, University of Athens, Aretaieion University Hospital
2
Third Department of Obstetrics and Gynecology, University of Athens, Attikon University Hospital
3
Hormone Laboratory, University of Athens, Aretaieion Hospital
4
National Center of Immunity and Tissue Typing, Genikon Hospital, Athens (Greece)
Clin. Exp. Obstet. Gynecol. 2008, 35(4), 272–274;
Published: 10 December 2008
Abstract
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.
Keywords
Congenital adrenal hyperplasia
Greek island