Fertility and sterility · 1996
Overdiagnosis of 21-hydroxylase late onset congenital adrenal hyperplasia: correlation of corticotropin test and human leukocyte antigen typing.
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Avivi I, Pollack S, Gideoni O, Linn S, Blumenfeld Z
Аннотация
OBJECTIVE: To evaluate the reliability of the ACTH test as a means for detection of late onset congenital adrenal hyperplasia (CAH) and discriminating it from polycystic ovary syndrome (PCOS), by repeating the test after 6 months of cyproterone acetate and ethinyl E2 treatment.
DESIGN: Follow-up comparison study.
SETTING: Reproductive Endocrinology in an university tertiary center.
PATIENTS: Thirty-one young women with hirsutism, oligoamenorrhea, and acne, 21 of them detected as late onset CAH, and 10 as non-late onset CAH (PCOS).
INTERVENTION: Cyproterone acetate and ethinyl E2 treatment for > or = 6 months. The ACTH test, before and after 6 months of cyproterone acetate + ethinyl E2 treatment, and human leukocyte antigen (HLA) typing.
MAIN OUTCOME MEASURE: The ACTH test interpretation correlated to HLA typing.
RESULTS: By repeating the ACTH stimulation test in the 31 women (after cyproterone acetate + ethinyl E2 administration), we found a diminution in the rate of accumulation of 17 alpha-hydroxyprogesterone (delta 17-OHP) + P, in all 21-hydroxylase late onset CAH cases. As a result of treatment with cyproterone acetate + ethinyl E2, a decrease in the accumulation rate of 17-OHP + P, below the discriminative value for late onset CAH (6.5 ng/dL per minute), was noted among 12 of 21 women defined primarily as late onset CAH. Among the nine other women, a decrease in the accumulation rate of 17-OHP + P was noted, however not < 6.5 ng/dL per minute.
CONCLUSIONS: The interpretation of delta 17-OHP + P for the diagnosis of late onset CAH may be too sensitive as to the correct clinical diagnosis of late onset CAH. By repeating the ACTH test after 6 months of treatment with cyproterone acetate-ethinyl E2, specificity and accuracy may be improved.
DESIGN: Follow-up comparison study.
SETTING: Reproductive Endocrinology in an university tertiary center.
PATIENTS: Thirty-one young women with hirsutism, oligoamenorrhea, and acne, 21 of them detected as late onset CAH, and 10 as non-late onset CAH (PCOS).
INTERVENTION: Cyproterone acetate and ethinyl E2 treatment for > or = 6 months. The ACTH test, before and after 6 months of cyproterone acetate + ethinyl E2 treatment, and human leukocyte antigen (HLA) typing.
MAIN OUTCOME MEASURE: The ACTH test interpretation correlated to HLA typing.
RESULTS: By repeating the ACTH stimulation test in the 31 women (after cyproterone acetate + ethinyl E2 administration), we found a diminution in the rate of accumulation of 17 alpha-hydroxyprogesterone (delta 17-OHP) + P, in all 21-hydroxylase late onset CAH cases. As a result of treatment with cyproterone acetate + ethinyl E2, a decrease in the accumulation rate of 17-OHP + P, below the discriminative value for late onset CAH (6.5 ng/dL per minute), was noted among 12 of 21 women defined primarily as late onset CAH. Among the nine other women, a decrease in the accumulation rate of 17-OHP + P was noted, however not < 6.5 ng/dL per minute.
CONCLUSIONS: The interpretation of delta 17-OHP + P for the diagnosis of late onset CAH may be too sensitive as to the correct clinical diagnosis of late onset CAH. By repeating the ACTH test after 6 months of treatment with cyproterone acetate-ethinyl E2, specificity and accuracy may be improved.