Profiles of 21-Carbon Steroids in 21-Hydroxylase Deficiency
Open accessAbstract
Context: Marked elevations of 17-hydroxyprogesterone (17OHP) are characteristic of classic 21-hydroxylase deficiency (21OHD). Testing of 17OHP provides the basis for 21OHD diagnosis, although it suffers from several pitfalls. False-positive or false-negative results and poor discrimination of nonclassic 21OHD from carriers limit the utility of serum 17OHP and necessitate dynamic testing after cosyntropin stimulation when values are indeterminate. Objective: The objective was to provide a detailed characterization of 21-carbon (C21) steroids in classic 21OHD, which might identify other candidate steroids that could be employed for the diagnosis of 21OHD. Setting and Participants: Patients (11 women, 10 men) with classic 21OHD and 21 sex- and age-matched controls seen in a tertiary referral center were studied. Methods: C21 steroids in the peripheral sera from all subjects, as well as in media from cultured testicular adrenal rest tumor (TART) cells and normal adrenal (NA) cells, were analyzed using liquid chromatography/tandem mass spectrometry (10 steroids). Additionally, the dynamics of C21 steroid metabolism in TART and NA cells were assessed with radiotracer studies. Results: Five C21 steroids were significantly higher in 21OHD patients: 17OHP (67-fold; P < .01), 21-deoxycortisol (21dF; 35-fold; P < .01), 16α-hydroxyprogesterone (16OHP; 28-fold; P < .01), progesterone (2-fold; P < .01), and 11β-hydroxyprogesterone (11OHP; not detected in controls; P < .01). The same steroids were the highest in media from TART cells relative to the NA cells: 11OHP, 58- to 65-fold; 21dF, 30- to 41-fold; 17OHP, 9-fold; progesterone, 9- to 12-fold; and 16OHP, 7-fold. Conclusion: Measurement of 16OHP and 11OHP along with 17OHP and 21dF by liquid chromatography/tandem mass spectrometry might comprise a biomarker panel to accurately diagnose all forms of 21OHD.
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The conventional steroid panel of patients with 21OHD has been expanded in recent years to include previously neglected androgens.
“The conventional steroid panel of patients with 21OHD has been expanded in the recent years, to include previously neglected androgens (12–14).”
From 24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency (2021) · cites this paper as [13]
The Discussion (page unavailable) proposes expanding 21OHD testing beyond established biomarkers 17OHP and 21dF. But the proposed additions, 16OHP and 11OHP, are C21 steroids; this paper does not support the claim that the panel was expanded to include previously neglected androgens. (LLM, conf=0.85)
Experimental — accuracy not yet measuredA phase III trial including 122 patients with classic CAH revealed superior hormonal control during the early morning and early afternoon compared to patients receiving standard glucocorticoid therapy.
“A phase III trial including 122 patients with classic CAH revealed superior hormonal control during the early morning and early afternoon compared to patients receiving standard glucocorticoid therapy (338,385).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [385]
The Patient sera section describes a study of 21 adults with classic 21-hydroxylase deficiency and 21 matched controls, not a phase III treatment trial. Searches for the 122-patient trial, early-morning and early-afternoon hormonal control, and a comparison with standard glucocorticoid therapy found no passage reporting the claimed result. (LLM, conf=0.77)
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- Authors
- Turcu, A. F., Rege, J., Chomic, R., Liu, J., Nishimoto, H. K., Else, T., Moraitis, A. G., Palapattu, G. S., Rainey, W. E., & Auchus, R. J.
- Affiliations
- Division of Metabolism, Endocrinology, and Diabetes (A.F.T., J.L., T.E., A.G.M., W.E.R., R.J.A.), Ann Arbor, Michigan 48109
- University of Michigan (US)
- Department of Urology (G.S.P.), Ann Arbor, Michigan 48109
- Corresponding author
- Auchus, Richard J.
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2015-06-01
- Volume
- 100
- Issue
- 6
- Pages
- 2283-2290
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC4454804
- OpenAlex
- W2054459763
- Cited by
- 77
- References
- 52
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 5 · 2023: 8 · 2022: 4 · 2021: 10 · 2020: 7 · 2019: 11 · 2018: 3 · 2017: 13 · 2016: 6 · 2015: 4
- FWCI
- 3.76
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of Michigan (48109, DK089503)
- National Institutes of Health (DK089503)
- College of Pharmacy, University of Michigan
- National Institute of General Medical Sciences (R01GM086596)
- National Institute of Diabetes and Digestive and Kidney Diseases (U24DK097153, DK089503, F32DK103461, R01DK069950, P30DK089503)
- Janssen Research and Development
- Michigan Nutrition Obesity Research Center, Medical School, University of Michigan
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- 21-hydroxylase deficiency, 17-hydroxyprogesterone, 21-deoxycortisol, 16α-hydroxyprogesterone, 11β-hydroxyprogesterone, steroid metabolism, cosyntropin stimulation
- MeSH terms
- Adrenal Hyperplasia, Congenital, Adrenal Rest Tumor, Adult, Cells, Cultured, Cortodoxone, Female, Humans, Hydroxyprogesterones, Male, Middle Aged, Progesterone, Testicular Neoplasms, Case-Control Studies, 17-alpha-Hydroxyprogesterone, Metabolome, Young Adult
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