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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Previous studies reported advanced bone age maturation in children with premature pubarche due to NCCAH.
“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]
The cut point of a basal 17-hydroxyprogesterone >200 ng/dL has been suggested as the threshold for performing ACTH stimulation tests.
“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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- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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