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

Author(s)

Maffazioli, Giovana D. N. ^[1] ; Bachega, Tania A. S. S. ^[2] ; Hayashida, Sylvia A. Y. ^[1] ; Gomes, Larissa G. ^[2] ; Valassi, Helena P. L. ^[2] ; Marcondes, Jose A. M. ^[3] ; Mendonca, Berenice B. ^[2] ; Baracat, Edmund C. ^[1] ; Maciel, Gustavo A. R. ^[1]

Affiliation

^[1] Univ Sao Paulo, Hosp Clin HCFMUSP, Fac Med, Dept Obstetricia & Ginecol, Disciplina Ginecol, BR-05403000 Sao Paulo - Brazil

^[2] Univ Sao Paulo, Hosp Clin HCFMUSP, Fac Med, Unidade Suprarrenal, Lab Hormonios & Genet Mol LIM42, Disciplina Endocr, BR-05403000 Sao Paulo - Brazil

^[3] Hosp Sirio Libanes, Unidade Endocrinol, BR-01308050 Sao Paulo - Brazil

• Document type: Journal article
• Source: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; v. 105, n. 8, p. E2895-E2902, AUG 2020.
• Web of Science Citations: 0

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 170HP/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. (AU)

• FAPESP's process: 16/23253-0 - Assessment of microRNAs and metabolites plasma profiles in patients with Polycystic Ovary Syndrome
• Grantee: Giovana de Nardo Maffazioli
• Support Opportunities: Scholarships in Brazil - Doctorate (Direct)