| http://www.w3.org/ns/prov#value | - This condition is an autosomal recessive disorder caused by loss-of-function mutations in CYP21A2, and represents the most common form of congenital adrenal hyperplasia (Conte and Grumbach,2011; Stewart and Krone,2011).Kamrath et al. (2012) have examined urine steroid metabolites in untreated patients with 21-OHD, and found significantly increased 17-OH allopregnanolone (= pdiol) levels and the an
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