- Metabolite
- HMDB0000363 (17a-Hydroxypregnenolone)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.000271 uM
- Age
- Newborn (0-30 days old)
- Sex
- Female
- Condition
- Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
Comments
n=1
References
- Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL: Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab. 2008 Mar;93(3):696-702. doi: 10.1210/jc.2007-2330. Epub 2008 Jan 8. [PubMed:18182448 ]