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LC-MS/MS improves screening towards 21-hydroxylase deficiency.
Ambroziak U, Kępczyńska-Nyk A, Kuryłowicz A, Wysłouch-Cieszyńska A, Małunowicz EM, Bartoszewicz Z, Kondracka A, Jaźwiec R, Pawłowska E, Szcześniak M, Dadlez M, Bednarczuk T. Ambroziak U, et al. Among authors: kepczynska nyk a. Gynecol Endocrinol. 2015 Apr;31(4):296-300. doi: 10.3109/09513590.2014.994599. Epub 2014 Dec 24. Gynecol Endocrinol. 2015. PMID: 25539143
The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.
Ambroziak U, Kępczyńska-Nyk A, Kuryłowicz A, Małunowicz EM, Wójcicka A, Miśkiewicz P, Macech M. Ambroziak U, et al. Among authors: kepczynska nyk a. Clin Endocrinol (Oxf). 2016 Jan;84(1):23-9. doi: 10.1111/cen.12935. Epub 2015 Oct 9. Clin Endocrinol (Oxf). 2016. PMID: 26331608