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A Journal on Endocrine System Diseases

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Minerva Endocrinologica 2014 September;39(3):215-22


language: English

Diagnosis of late-onset congenital adrenal hyperplasia in clinical practice: current evaluation

Sahmay S., Tuten A., Gurleyen H., Oncul M., Benian A., Tamer Erel C.

Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey


AIM: Aim of the study was to investigate the need to perform the adrenocorticotropic hormone (ACTH) stimulation test by recognizing the importance of a second look at basal serum 17-alpha hydroxyprogesterone (17-OHP) levels and calculating new serum 17-OHP cut-off level.
METHODS: A total of 142 patients who had hyperandrogenism symptoms and had basal serum 17-OHP levels of higher than 1.3 ng/mL were scheduled to have an ACTH stimulation test performed. Prior to ACTH stimulation, 17-OHP levels were recorded and as second-look levels.
RESULTS: Patients were divided to two groups, late-onset congenital adrenal hyperplasia (LOCAH) (25/142), non-LOCAH (117/142). There were statistically significant results related to cycle length and menstrual irregularity between two groups (P=0.042, P=0.041, respectively). In the LOCAH group, basal serum 17 OHP levels were higher than non-LOCAH (P=0.001). When basal serum 17-OHP levels were measured a second time, the need for performing the ACTH stimulation test was decreased. According to cut-off levels of 1.3 ng/mL, 100% of patients needing to take the second serum 17-OHP decreased to 83.1%, a cut-off level of 2 ng/mL decreased numbers from 74.65% to 35.92% and for 2.25 ng/mL 58.42% of patients was decreased to 26.77%. In this study we established 2.25 ng/ml is a superior cut-off level for 17-OHP, its sensitivity is 84% and specifity is 50.4%.
CONCLUSION: The incidence of LOCAH is 1.35% among the patients with hyperandrogenism symptoms. We found a single measurement of serum 17-OHP level can be unreliable. Second 17-OHP test reduces the need of performing the ACTH stimulation test by approximately 30%.

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