C21-steroid hormone metabolism

As a mitochondrial P450 system, P450c11 is dependent on two electron transfer proteins, adrenodoxin reductase and adrenodoxin that transfer 2 electrons from NADPH to the P450 for each monooxygenase reaction catalyzed by the enzyme. In most respects this process of electron transfer appears similar to that of P450scc system that catalyzes cholesterol side chain cleavage. [9] Similar to P450scc the process of electrons transfer is leaky leading to superoxide production. The rate of electron leakage during metabolism depends on the functional groups of the steroid substrate. [10]

The association of DSD and syndromic features can be explained by the ubiquous expression of DSD genes or by the contiguous gene syndrome, in which the loss of contiguous genes related and non related to the DSD predispose to the syndromic presentation. aCGH and SNP-array are tools that can detect submicroscopic genome imbalance and copy number variation in the genome as small as 10 KB in apparently normal karyotype patients (15) (16). Pathogenic copy number variations in already known genes related to 46,XY DSD phenotype and novel candidate genes such as SUPT3H, C2ORF80, KANK1, ADCY2 and ZEB2 have been demonstrated by array technics (17) (18). Some authors have proposed that CGH or SNP-array shoud be used as the first genomic test for investigating DSD associated with syndromic features since it is capable to diagnose pathogenic copy number variations in almost 30% of these patients as a single method (17,18).

C21-steroid hormone metabolism

c21-steroid hormone metabolism


c21-steroid hormone metabolismc21-steroid hormone metabolismc21-steroid hormone metabolismc21-steroid hormone metabolismc21-steroid hormone metabolism