TY - JOUR
TI - The incidence of 21 alpha-hydroxylase deficiency in Greek
hyperandrogenic women: screening and diagnosis
AU - Trakakis, E
AU - Chryssikopoulos, A
AU - Phocas, I
AU - Sarandakou, A and
AU - Rizos, D
AU - Stavropoulos-Giokas, C
JO - Gynecological Endocrinology
PY - 1998
VL - 12
TODO - 2
SP - 89-96
PB - PARTHENON PUBLISHING GROUP
SN - 0951-3590, 1473-0766
TODO - 10.3109/09513599809024956
TODO - 21 alpha-hydroxylase; 17-hydroxyprogesterone; NC-CAH; HLA antigens;
hyperandrogenic women; screening
TODO - 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.
ER -