Secondtier LC-MS also measures 11-S in addition to 17-OHP, 21-S, cortisol and 4AS, which is specifically diagnostic for
11-hydroxylase deficiency. Thus, the method of steroid profiling has a potential to distinguish other rare forms of classical CAH, beyond 21-hydroxylase deficiency.
On 6/18/13, her unstimulated serum 11-deoxycortisol concentration was impressively elevated at 91ng/dL (<37ng/dL) consistent with a nonclassic 11-hydroxylase deficiency. Serum 11-deoxycortisol concentration was determined by liquid chromatography/tandem mass spectrometry.
Bahtiyar, "Rouxen-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency," BMJ Case Reports, vol.
11-Hydroxylase deficiency, in particular if it affects CYP11B1, can be associated with modest elevations in serum 17-hydroxyprogesterone concentrations.
Gotze et al., "Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene," The Journal of Clinical Endocrinology and Metabolism, vol.
Muller et al., "Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency," The Journal of Clinical Endocrinology & Metabolism, vol.
This pilot study also measured 11-S in addition to 17-OHP, 21-S, F and 4AS, which is specifically diagnostic for
11-hydroxylase deficiency. Hence, with our tandem MS method, it was possible to detect a male newborn with (later genotype-proven) classical 11-OHD in addition to cases with 21-OHD.