title: The incidence of 21 alpha-hydroxylase deficiency in Greek hyperandrogenic women: screening and diagnosis.
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 Greek females with hyperandrogenic symptoms is 3.4%. 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.
authors.affiliation: Second Department of Obstetrics and Gynecology, University of Athens, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Trakakis
authors.forename: A
authors.initials: A
authors.lastname: Chryssikopoulos
authors.forename: I
authors.initials: I
authors.lastname: Phocas
authors.forename: A
authors.initials: A
authors.lastname: Sarandakou
authors.forename: D
authors.initials: D
authors.lastname: Rizos
authors.forename: C
authors.initials: C
authors.lastname: Stavropoulos-Giokas
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000324:Adrenocorticotropic Hormone / Q000097:blood*; D000328:Adult; D005260:Female; D006115:Greece; D006801:Humans; D017588:Hyperandrogenism / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology*; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D011237:Predictive Value of Tests; D011446:Prospective Studies
chemical_list: D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D006899:Mixed Function Oxygenases