@article{3050338, title = "The incidence of 21 alpha-hydroxylase deficiency in Greek hyperandrogenic women: screening and diagnosis", author = "Trakakis, E and Chryssikopoulos, A and Phocas, I and Sarandakou, A and and Rizos, D and Stavropoulos-Giokas, C", journal = "Gynecological Endocrinology", year = "1998", volume = "12", number = "2", pages = "89-96", publisher = "PARTHENON PUBLISHING GROUP", issn = "0951-3590, 1473-0766", doi = "10.3109/09513599809024956", keywords = "21 alpha-hydroxylase; 17-hydroxyprogesterone; NC-CAH; HLA antigens; hyperandrogenic women; screening", abstract = "The purpose of this prospective study was to determine the incidence of any form of 21 alpha-hydroxylase deficiency among Greek women with hyperandrogenic symptoms, and to test the predictive value of basal serum 17-hydroxyprogesterone (17-OHP) in the early follicular phase as a screening index for patient preselection to adrenocorticotropic hormone (ACTH) testing. Eighty-eight unselected women with hyperandrogenic symptoms were examined in the Gynecological Endocrinology Unit of the Second Department of Obstetrics and Gynecology of Athens University. Using the ACTH-stimulated 17-OHP values at 60 minutes (17-OHP60) the study population was divided into four groups (A, B, C and D). Clinical and basal hormonal parameters as well as serum 17-OHP60 values and human leukocyte antigens were studied. Both clinical and basal hormonal parameters could be used to distinguish only patients with severe 21 alpha-hydroxylase deficiency (group A). In contrast, patients with moderate non-classical congenital adrenal hyperplasia (NC-CAH; group B), heterozygotes for NC-CAH (group C), and unaffected females (group D) can be diagnosed and classified only by serum 17-OHP60 values. In conclusion, the incidence of NC-CAH in creek females with hyperandrogenic symptoms is 5.4%. The positive predictive value of basal 17-OHP is only 13% for this disease. Only 17-OHP60 helps to diagnose and classify moderate and mild forms of NC-CAH. Thus, it seems that ACTH testing is imperative in every subject suspected of this enzymatic disorder." }