The DOI matches its Crossref record; 55 of the 56 references it cites were found in a registry or an index.
11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency
Open accessAbstract
Context: Patients with 21-hydroxylase deficiency (21OHD) have long-term complications, resulting from poor disease control and/or glucocorticoid overtreatment. Lack of optimal biomarkers has made it challenging to tailor therapy and predict long-term outcomes. Objective: To identify biomarkers of disease control and long-term complications in 21OHD. Setting and Participants: Cross-sectional study of 114 patients (70 males), ages 2 to 67 years (median, 15 years), seen in a tertiary referral center. Methods: We correlated a mass-spectrometry panel of 23 steroids, obtained before first morning medication, with bone age advancement (children), adrenal volume (adults), testicular adrenal rest tumors (TART), hirsutism, menstrual disorders, and pituitary hormones. Results: Total adrenal volume correlated positively with 18 steroids, most prominently 21-deoxycortisol and four 11-oxygenated-C19 (11oxC19) steroids: 11β-hydroxyandrostenedione (11OHA4), 11-ketoandrostenedione (11ketoA4), 11β-hydroxytestosterone (11OHT), and 11-ketotestosterone (11ketoT) (r ≈ 0.7, P < 0.0001). Nine steroids were significantly higher (P ≤ 0.01) in males with TART compared with those without TART, including 11OHA4 (6.8-fold), 11OHT (4.9-fold), 11ketoT (3.6-fold), 11ketoA4 (3.3-fold), and pregnenolone sulfate (PregS; 4.8-fold). PregS (28.5-fold) and 17-hydroxypregnenolone sulfate (19-fold) levels were higher (P < 0.01) in postpubertal females with menstrual disorders. In males, testosterone levels correlated positively with all 11oxC19 steroids in Tanner stages 1 and 2 (r ≈ 0.7; P < 0.001) but negatively in Tanner stage 5 (r = -0.3 and P < 0.05 for 11ketoA4 and 11ketoT). In females, testosterone level correlated positively with all four 11oxC19 steroids across all Tanner stages (r ≈ 0.8; P < 0.0001). Conclusion: 11oxC19 steroids and PregS might serve as clinically useful biomarkers of disease control and long-term complications in 21OHD.
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“similar to our previous studies (12, 17), supporting their origin from independent sources in well-controlled men.”
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 [17]
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“11-oxyandrogens were found to correlate with parameters of poor 21OHD control (11, 17).”
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 [17]
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“11KT and its precursors are associated with clinical indicators of poor 21OHD control, including large adrenal volume, presence of testicular adrenal rest tumor in males, and irregular menses in females (17).”
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 [17]
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“PregS has also been found to be associated with clinical surrogates of poor 21OHD control (17).”
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 [17]
In the citing paper
“In these patients, these increased levels derive primarily from the adrenals and high levels correlate well with poor long-term disease control and disease-specific comorbidities (for example, increased adrenal volume, testicular tumours of adrenal-like tissue termed testicular adrenal rest tumours (TART), menstrual irregularity or hirsutism)51.”
From Management challenges and therapeutic advances in congenital adrenal hyperplasia (2022) · cites this paper as [51]
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“CAH cohort studies demonstrate that increased adrenal volume is correlated with suboptimal disease control, based on elevated adrenal androgens, and other comorbidities, including adverse cardiovascular profile, hypogonadism and oligomenorrhoea51,94,95.”
From Management challenges and therapeutic advances in congenital adrenal hyperplasia (2022) · cites this paper as [51]
In the citing paper
“More recently, it has been found that metabolites such as 21-deoxycortisol and 11-oxysteroids may provide more direct evidence of adrenal androgen precursor production in CAH (218, 219).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [219]
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Cites
Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Montori, V. M., Oberfield, S. E., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2631 · Cited by 1,468
Self-citationCongenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,420
Congenital adrenal hyperplasia
Speiser, P. W., & White, P. C. (2003) · New England Journal of Medicine · doi:10.1056/nejmra021561 · Cited by 1,405
Congenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669
Self-citationCongenital adrenal hyperplasia.
Merke, D. P., & Bornstein, S. R. (2005) · The Lancet · doi:10.1016/s0140-6736(05)66736-0 · Cited by 628
Self-citationCongenital Adrenal Hyperplasia
Levy, J. B., & Husmann, D. A. (1996) · The Journal of Urology · doi:10.1097/00005392-199608001-00060 · Cited by 415
Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia
Finkielstain, G. P., Kim, M. S., Sinaii, N., Nishitani, M., Van Ryzin, C., Hill, S. C., Reynolds, J. C., Hanna, R. M., & Merke, D. P. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2102 · Cited by 313
Self-citationStikkelbroeck, N. M. M. L., Otten, B. J., Pasic, A., Jager, G. J., Sweep, C. G. J. F., Noordam, K., & Hermus, A. R. M. M. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.12.8090 · Cited by 305
Long Term Outcome in Adult Males with Classic Congenital Adrenal Hyperplasia
Cabrera, M. S., Vogiatzi, M. G., & New, M. I. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.7.7668 · Cited by 234
Turcu, A. F., Nanba, A. T., Chomic, R., Upadhyay, S. K., Giordano, T. J., Shields, J. J., Merke, D. P., Rainey, W. E., & Auchus, R. J. (2016) · European Journal of Endocrinology · doi:10.1530/eje-15-1181 · Cited by 231
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- 1985, Radiographic Skeletal Development of the Hand and Wrist
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Items 101–107 of 107
Chong, H., Pi, Y., Zhang, Y., Li, Y., Xing, Y., & Zhang, H. (2025) · BMC Pediatrics · doi:10.1186/s12887-025-05643-3
The value of 11-oxygenated androgens in the diagnosis and treatment of 21-hydroxylase deficiencyPreprint
Lan, T., Ruan, W., Chen, K., Yang, M., Chen, X., & Yao, H. J. (2025) · Research Square · doi:10.21203/rs.3.rs-6484008/v1
Alhazmi, D. S., Alabdulqader, A., Almeqbel, S. B., Alhuthil, R. T., & Alsagheir, A. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1730774
Bilateral giant myelolipomas in a female patient with untreated 21-hydroxylase deficiency
Welp, A.-C., Auer, M. K., Tschaidse, L., Zimmermann, P., Braunschweig, T., & Reisch, N. (2026) · JCEM Case Reports · doi:10.1210/jcemcr/luag176
Reproductive and fertility challenges in adolescents with congenital adrenal hyperplasia
Tschaidse, L., Auer, M. K., Nowotny, H. F., & Reisch, N. (2026) · Frontiers in Adolescent Medicine · doi:10.3389/fradm.2026.1878713
Approach to the patient: the pregnant woman with congenital adrenal hyperplasia
Reisch, N., Auer, M. K., Nowotny, H. F., Welp, A.-C., Dervishi, O., Rogenhofer, N. N., Thaler, C., & Tschaidse, L. (2026) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgag332
Lan, T., Ruan, W., Chen, K., Yang, M., Chen, X., & Yao, H. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1913565
Metadata
- Authors
- Turcu, A. F., Mallappa, A., Elman, M. S., Avila, N. A., Marko, J., Rao, H., Tsodikov, A., Auchus, R. J., & Merke, D. P.
- Affiliations
- University of Michigan (US)
- National Institutes of Health (US)
- Veterans Health Administration (US)
- Corresponding author
- Merke, Deborah P
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2017-05-01
- Volume
- 102
- Issue
- 8
- Pages
- 2701-2710
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC5546849
- OpenAlex
- W2610763596
- Cited by
- 107
- References
- 55
- Citations by year
- 2026: 8 · 2025: 9 · 2024: 11 · 2023: 14 · 2022: 12 · 2021: 15 · 2020: 12 · 2019: 10 · 2018: 12 · 2017: 3
- FWCI
- 4.13
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of General Medical Sciences (R01GM086596)
- National Institute of Diabetes and Digestive and Kidney Diseases (K08DK109116, P30DK089503)
- Michigan Nutrition Obesity Research Center, Medical School, University of Michigan
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- 21-hydroxylase deficiency, 11-oxygenated androgens, adrenal volume, testicular adrenal rest tumor, adrenal incidentaloma, 11β-hydroxyandrostenedione, 11-ketoandrostenedione, 11β-hydroxytestosterone, 11-ketotestosterone, pregnenolone sulfate, menstrual disorders, hirsutism, steroid biomarkers, glucocorticoid therapy
- MeSH terms
- Adolescent, Adrenal Glands, Adrenal Hyperplasia, Congenital, Adrenal Rest Tumor, Adult, Age Determination by Skeleton, Aged, Androgens, Androstenedione, Androstenes, Child, Child, Preschool, Cortodoxone, Cross-Sectional Studies, Female, Hirsutism, Humans, 17-alpha-Hydroxypregnenolone, Hydroxytestosterones, Male, Menstruation Disturbances, Middle Aged, Organ Size, Pregnenolone, Testicular Neoplasms, Testosterone, Young Adult
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