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Tetrahydro-11-deoxy cortisol (THS) is the primary urinary metabolite of 11-deoxycortisol.1,2 Urinary excretion of THS is elevated in patients with 11β-hydroxylase deficiency, a condition resulting from mutations in the cytochrome P450 (CYP) isoform CYP11B1. Urinary levels of THS are also elevated in patients with adrenocortical carcinoma (ACC) and adrenocortical adenoma (ACA) but are higher in patients with ACC compared to ACA.3,4
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1. Genetic variation at the locus encompassing 11-
2. Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene. J. Steroid Biochem. Mol. Biol. 155(Pt A), 126-134 (2016).
3. Urine steroid metabolomics as a biomarker tool for detecting malignancy in adrenal tumors. J. Clin. Endocrinol. Metab. 96(12), 3775-3784 (2011).
4. Different types of urinary steroid profiling obtained by high-