The DOI matches its Crossref record; 43 of the 47 references it cites were found in a registry or an index.
Precocious Pubarche: Distinguishing Late-Onset Congenital Adrenal Hyperplasia from Premature Adrenarche
Abstract
CONTEXT: Because precocious pubarche (PP) reveals late-onset congenital adrenal hyperplasia (LO-CAH) in 5 to 20% of cases, an adrenal stimulation test is recommended in all patients presenting with it. This test is stressful and expensive, and results are normal in more than 80% of cases. OBJECTIVE: Our objective was to identify clinical and plasma predictors of LO-CAH among patients presenting with PP. DESIGN, SETTING, AND PATIENTS: We conducted a retrospective cohort study that included all patients seen for PP at our hospital between 1999 and 2006 (n = 238). All had undergone an ACTH test. MAIN OUTCOME MEASURE: LO-CAH was defined by a post-ACTH 17-hydroxyprogesterone (17-OHP) plasma level greater than 10 ng/ml and confirmed by mutational analysis of the CYP21 gene. The association of standard clinical and laboratory indicators with LO-CAH was assessed. RESULTS: Ten (4%) of 238 patients had LO-CAH. Basal 17-OHP, Delta4-androstenedione, and testosterone plasma levels were significantly higher in these patients. A 2-ng/ml threshold for basal 17-OHP plasma levels offered 100% (95% CI, 69-100) sensitivity for the diagnosis of LO-CAH and 99% (95% CI, 96-100) specificity. CONCLUSION: We identified three plasma predictors of LO-CAH in patients presenting with PP. A selective strategy based on a 2-ng/ml basal 17-OHP plasma level threshold would have safely avoided 99% of the unnecessary ACTH tests among our patients.
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“This is in contrast with previous studies reporting advanced BA maturation in children with PP due to NCCAH (20,21).”
From Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche (2011) · cites this paper as [21]
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“The cut point of a basal 17-hydroxyprogesterone >200 ng/dL has been suggested as the threshold for performing ACTH stimulation tests [148].”
From Polycystic Ovary Syndrome: Pathophysiology, Presentation, and Treatment With Emphasis on Adolescent Girls (2019) · cites this paper as [148]
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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
Speiser, P. W., Arlt, W., Auchus, R. J., Baskin, L. S., Conway, G. S., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Murad, M. H., Oberfield, S. E., et al. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01865 · Cited by 1,234
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Metadata
- Authors
- Armengaud, J.-B., Charkaluk, M.-L., Trivin, C., Tardy, V., Bréart, G., Brauner, R., & Chalumeau, M.
- Affiliations
- Inserm (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Necker-Enfants Malades (FR)
- Groupement Hospitalier Est (V.T.), Centre de Biologie et Pathologie Est, 69677 Bron, France
- Institut National de la Santé et de la Recherche Médicale U953 (J.-B.A., G.B., M.C.), 75014 Paris, France
- Corresponding author
- Chalumeau, Martin
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2009-08-01
- Volume
- 94
- Issue
- 8
- Pages
- 2835-2840
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2078368333
- Cited by
- 135
- References
- 47
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 7 · 2023: 8 · 2022: 6 · 2021: 7 · 2020: 13 · 2019: 10 · 2018: 10 · 2017: 7 · 2016: 4 · 2015: 8 · 2014: 6 · 2013: 11 · 2012: 10
- FWCI
- 4.16
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- 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
- precocious pubarche, late-onset congenital adrenal hyperplasia, premature adrenarche, 17-hydroxyprogesterone, ACTH stimulation test, CYP21, Δ4-androstenedione, testosterone, diagnostic thresholds, unnecessary testing
- MeSH terms
- Adrenal Hyperplasia, Congenital, Adrenocorticotropic Hormone, Androstenedione, Child, Child, Preschool, Female, Humans, Infant, Male, Puberty, Precocious, Retrospective Studies, Testosterone, 17-alpha-Hydroxyprogesterone, Adrenarche
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