ArticleEuropean journal of endocrinology2020
Androgen excess and diagnostic steroid biomarkers for nonclassic 21-hydroxylase deficiency without cosyntropin stimulation.
Article in European journal of endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 31 citations in OpenAlex.
- 24-Hour Profiles of 11-Oxygenated CFrontiers in endocrinology · 2021Trial
- Characteristics of androgen metabolic pathways in patients with 21-hydroxylase deficiency and their association with disease control status.Frontiers in endocrinology · 2026Article
- Artifactual elevations of 11β-hydroxyandrostenedione and 11-ketoandrostenedione in mass spectrometry assays.The Journal of steroid biochemistry and molecular biology · 2025Article
- Serum 21-Deoxycortisol for Diagnosis of Nonclassic Congenital Adrenal Hyperplasia in Women With Androgen Excess.The Journal of clinical endocrinology and metabolism · 2023Article
- Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management.The Journal of clinical endocrinology and metabolism · 2023Review
- The use of liquid chromatography-tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia: improvements and future perspectives.Frontiers in endocrinology · 2023Review
- A Multiclassifier System to Identify and Subtype Congenital Adrenal Hyperplasia Based on Circulating Steroid Hormones.The Journal of clinical endocrinology and metabolism · 2022Article
- Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot.Endocrine connections · 2022Article
- Maternal 11-Ketoandrostenedione Rises Through Normal Pregnancy and Is the Dominant 11-Oxygenated Androgen in Cord Blood.The Journal of clinical endocrinology and metabolism · 2022Article
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.Endocrine reviews · 2022Review
- Production of 11-Oxygenated Androgens by Testicular Adrenal Rest Tumors.The Journal of clinical endocrinology and metabolism · 2022Observational
- The way toward adulthood for females with nonclassic congenital adrenal hyperplasia.Endocrine · 2021Review
- Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?Endocrinology and metabolism clinics of North America · 2021Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesThe clinical presentation of patients with nonclassic 21-hydroxylase deficiency (N21OHD) is similar with that for other disorders of androgen excess. The diagnosis of N21OHD typically requires cosyntropin stimulation. Additionally, the management of such patients is limited by the lack of reliable biomarkers of androgen excess. Herein, we aimed to: (1.) compare the relative contribution of traditional and 11-oxyandrogens in N21OHD patients and (2.) identify steroids that accurately diagnose N21OHD with a single baseline blood draw.
designWe prospectively enrolled patients who underwent a cosyntropin stimulation test for suspected N21OHD in two tertiary referral centers between January 2016 and August 2019.
methodsBaseline sera were used to quantify 15 steroids by liquid chromatography-tandem mass spectrometry. Logistic regression modeling was implemented to select steroids that best discriminate N21OHD from controls.
resultsOf 86 participants (72 females), median age 26, 32 patients (25 females) had N21OHD. Age, sex distribution, and BMI were similar between patients with N21OHD and controls. Both testosterone and androstenedione were similar in patients with N21OHD and controls, while four 11-oxyandrogens were significantly higher in patients with N21OHD (ratios between medians: 1.7 to 2.2, P < 0.01 for all). 17α-Hydroxyprogesterone (6.5-fold), 16α-hydroxyprogesterone (4.1-fold), and 21-deoxycortisol (undetectable in 80% of the controls) were higher, while corticosterone was 3.6-fold lower in patients with N21OHD than in controls (P < 0.001). Together, baseline 17α-hydroxyprogesterone, 21-deoxycortisol, and corticosterone showed perfect discrimination between N21OHD and controls.
conclusionsAdrenal 11-oxyandrogens are disproportionately elevated compared to conventional androgens in N21OHD. Steroid panels can accurately diagnose N21OHD in unstimulated blood tests.
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