Steroid Screening Tools Differentiating Nonclassical Congenital Adrenal Hyperplasia and Polycystic Ovary Syndrome
- 1 August 2020
- journal article
- research article
- Published by The Endocrine Society in Journal of Clinical Endocrinology & Metabolism
- Vol. 105 (8), E2895-E2902
- https://doi.org/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 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.Funding Information
- Fundação de Amparo à Pesquisa do Estado de São Paulo (#2016/23253-0)
- CNPq (#303088/2015-2, #303002/2016-6, #302003/2014-2)
This publication has 36 references indexed in Scilit:
- Androgen Synthesis in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase DeficiencyHormone and Metabolic Research, 2013
- Non-Classic Adrenal Hyperplasia due to the Deficiency of 21-Hydroxylase and Its Relation to Polycystic Ovarian SyndromeEndocrine Immunology, 2012
- Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice GuidelineJournal of Clinical Endocrinology & Metabolism, 2010
- False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)–ether extraction reveals two distinct reasons for elevated 17α-hydroxyprogesterone (17-OHP) valuesSteroids, 2009
- Steroid Hormone Analysis by Tandem Mass SpectrometryClinical Chemistry, 2009
- Automated, fast and sensitive quantification of 17α-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extractionSteroids, 2006
- Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass SpectrometryClinical Chemistry, 2004
- Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndromeFertility and Sterility, 2004
- A Multicenter Study of Women with Nonclassical Congenital Adrenal Hyperplasia: Relationship between Genotype and PhenotypeMolecular Genetics and Metabolism, 2000
- Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.JCI Insight, 1992