Jean-Baptiste Armengaud, Marie-Laure Charkaluk, Christine Trivin, Véronique Tardy, Gérard Bréart, Raja Brauner, Martin Chalumeau
Université Paris Descartes, Paris, France.
The Journal of clinical endocrinology and metabolism 2009 AugBecause 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. Our objective was to identify clinical and plasma predictors of LO-CAH among patients presenting with PP. 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. 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. 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. 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.
Jean-Baptiste Armengaud, Marie-Laure Charkaluk, Christine Trivin, Véronique Tardy, Gérard Bréart, Raja Brauner, Martin Chalumeau. Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche. The Journal of clinical endocrinology and metabolism. 2009 Aug;94(8):2835-40
PMID: 19454583
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