Steroid Screening Tools Differentiating Nonclassical Congenital Adrenal Hyperplasia and Polycystic Ovary Syndrome

• Published in: The journal of clinical endocrinology and metabolism 2020-08, Vol.105 (8), p.e2895-e2902
• Main Authors: Maffazioli, Giovana D N, Bachega, Tania A S S, Hayashida, Sylvia A Y, Gomes, Larissa G, Valassi, Helena P L, Marcondes, Jose A M, Mendonca, Berenice B, Baracat, Edmund C, Maciel, Gustavo A R
• Format: Article
• Language: English
• Subjects: 17-alpha-Hydroxyprogesterone - blood; Adolescent; Adrenal Hyperplasia, Congenital - blood; Adrenal Hyperplasia, Congenital - diagnosis; Adrenal Hyperplasia, Congenital - genetics; Adrenocorticotropic Hormone - administration & dosage; Adult; Biomarkers - blood; Child; Child, Preschool; Cross-Sectional Studies; Diagnosis, Differential; Diagnostic Techniques, Endocrine; Feasibility Studies; Female; Genetic Testing; Humans; Hydrocortisone - blood; Polycystic Ovary Syndrome - blood; Polycystic Ovary Syndrome - diagnosis; Reference Values; Retrospective Studies; ROC Curve; Steroid 21-Hydroxylase - genetics; Young Adult
• ISSN: 0021-972X; 1945-7197
• DOI: 10.1210/clinem/dgaa369

Abstract Purpose To analyze the performance of basal 17OH-progesterone (17OHP) levels versus the basal 17OHP/cortisol ratio in nonclassical congenital adrenal hyperplasia (NCAH) and polycystic ovary syndrome (PCOS) differential diagnosis. Basal 17OHP levels >10 ng/mL have been used to confirm NCAH diagnosis without the adrenocorticotropic hormone (ACTH) test; however, the optimal cutoff value is a matter of debate. Methods A cross-sectional study was performed at the endocrinology and gynecological endocrinology outpatient clinics of a tertiary hospital. A total of 361 patients with PCOS (age 25.0 ± 5.3 years) and 113 (age 19.0 ± 13.6 years) patients with NCAH were enrolled. Basal and ACTH-17OHP levels were measured by radioimmunoassay, and CYP21A2 molecular analysis was performed to confirm hormonal NCAH diagnosis. Receiver operating characteristic curve analysis compared basal 17OHP levels and the 17OHP/cortisol ratio between NCAH and PCOS patients. Results Basal 17OHP levels were higher in NCAH patients than in those with PCOS (8.85 [4.20-17.30] vs 1.00 [0.70-1.50] ng/mL; P < 0.0001), along with 17OHP/cortisol ratio (0.86 [0.47-1.5]) vs 0.12 [0.07-0.19]; P < 0.0001, respectively). Basal 17OHP levels and the 17OHP/cortisol ratio were strongly correlated in both groups (rho = 0.82; P < 0.0001). Areas under the curves for basal 17OHP levels (0.9528) and the 17OHP/cortisol ratio (0.9455) were not different to discriminate NCAH and PCOS (P > 0.05). Basal 17OHP level >5.4 ng/mL and 17OHP/cortisol ratio >2.90 had 100% specificity to identify NCAH. Main Conclusions Basal 17OHP levels >5.4 ng/mL can be used to perform differential diagnoses between NCAH and PCOS, dismissing the ACTH test. The basal 17OHP/cortisol ratio was not superior to basal 17OHP levels in this scenario.