ECE2017 Guided Posters Adrenal 2 (10 abstracts)
Plasma cortisol and aldosterone responses to insulin tolerance test and sodium depletion in women with non classic 21-hydroxylase deficiency caused by bi-allelic CYP21A2 mutations (NC-CAH)
Peter Kamenicky 1, , Anne Blanchard 3 , Antonin Lamaziere 4 , Bruno Donadille 4 , Lise Duranteau 1 , Sylvie Salenave 1 , Laurence Pietri 5 , Marie Laure Raffin-Sanson 6 , Jean-François Gautier 7 , Philippe Chanson 1, , Sophie Christin Maitre 4 , Veronique Tardy 8 , Yves Le Bouc 4 , Sylvie Brailly-Tabard 1 & Jacques Young 1,
1APHP Hôpital Bicêtre, Paris, France; 2University Paris Sud- Reproductive Endocrinology, Paris, France; 3APHP Hôpital Georges Pompidou, Paris, France; 4APHP-UPMC Hôpital Saint-Antoine, Paris, France; 5Hôpital Saint Joseph, Paris, France; 6APHP Hôpital Ambroise Paré, Paris, France; 7APHP Hôpital Lariboisière, Paris, France; 8Hôpital Nord-Hôpitaux Civils de Lyon, Lyon, France.
NC-CAH is diagnosed in pubertal/post-pubertal women because of androgen excess however, the risk of potential adrenal insufficiency is not known, and indication of systematic glucocorticoid replacement therapy is controversial.
Design: Prospective controlled clinical study in a tertiary referral center. 20 women with NC-CAH (serum stimulated 17-OHP >10 ng/ml/250 μg, Synacthen) comparatively to matched healthy women, were included if they had not receive glucocorticoid treatment >1 year and estrogen-based oral contraception stopped >3 months. Each participant underwent sequentially two tests separated by a 2 to 7-days: insulin tolerance gold standard test (ITT) and a sodium depletion test (oral 40 mg furosemide under low sodium diet) to stimulate both endogenous active renin (AR) and aldosterone. Steroid levels measured by LC-MSMS.
Results: NC-CAH had lower pic plasma cortisol concentrations during ITT than healthy women: 17.2 μg/dl (13.1–22.8) vs 21.2 μg/dl (17.1–33.5), P=0.0002. A peak plasma cortisol above 17.0 μg/dl was obtained in all controls but only in 60% NC-CAH women. NC-CAH had higher baseline ACTH and AR levels. 24-h after sodium depletion, mean plasma aldosterone levels were comparable between the two groups, but NC-CAH women had higher (P=0.003) stimulated AR levels than healthy women: 67 mUI/l (15–156) vs 39 mUI/l (6–87).
Conclusions: Forty percent women with NC-CAH have subnormal glucocorticoid adrenal function. Their aldosterone secretion was maintained normal by increased AR levels. Besides androgen excess therapy, clinical management of NC-CAH women should include assessment of their cortisol and aldosterone secretion; systematic chronic replacement therapy is still an open question, but transient glucocorticoid supplementation and rehydration during periods of stress should be considered.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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