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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
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.
Jezela-Stanek A, Małunowicz EM, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K, Czerwiecka M, Jezuita J, Nowaczyk MJ, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: malunowicz em. Clin Genet. 2006 Jan;69(1):77-85. doi: 10.1111/j.1399-0004.2006.00551.x. Clin Genet. 2006. PMID: 16451140
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