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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: malunowicz em. Clin Endocrinol (Oxf). 2016 Jan;84(1):23-9. doi: 10.1111/cen.12935. Epub 2015 Oct 9. Clin Endocrinol (Oxf). 2016. PMID: 26331608
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: malunowicz em. Gynecol Endocrinol. 2015 Apr;31(4):296-300. doi: 10.3109/09513590.2014.994599. Epub 2014 Dec 24. Gynecol Endocrinol. 2015. PMID: 25539143
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M, Silink M, Shackleton CH, Maiter D, Krone N, Arlt W. Idkowiak J, et al. Among authors: malunowicz em. J Clin Endocrinol Metab. 2011 Mar;96(3):E453-62. doi: 10.1210/jc.2010-1607. Epub 2010 Dec 29. J Clin Endocrinol Metab. 2011. PMID: 21190981 Free PMC article.
44 results