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Cited by 135Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

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Precocious Pubarche: Distinguishing Late-Onset Congenital Adrenal Hyperplasia from Premature Adrenarche

Armengaud, Jean-Baptiste, Charkaluk, Marie-Laure, Trivin, Christine, Tardy, Véronique, Bréart, Gérard, Brauner, Raja, Chalumeau, Martin·2009·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2009-0314
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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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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
ORCID
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
DOI
10.1210/jc.2009-0314
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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