Corticosteroid-binding globulin deficiency

Buss et al. (2007) identified a heterozygous 1254G-T transversion in the SERPINA6 gene, resulting in the D367N substitution, in a 22-year-old Swiss male patient with severe muscle fatigue, usually after stressful events. Extensive biochemical and endocrine analysis showed decreased serum CBG and increased serum cortisol in response to ACTH or catecholamine administration. Investigation of other family members showed that the mutation occurred de novo on the paternal allele. Buss et al. (2007) proposed that SERPINA6 deficiency may act as an autosomal dominant disorder with incomplete penetrance, although a second pathogenic mutation could not be excluded.

Because non-genomic pathways include any mechanism that is not a genomic effect, there are various non-genomic pathways. However, all of these pathways are mediated by some type of steroid hormone receptor found at the plasma membrane. [13] Ion channels, transporters, G-protein coupled receptors (GPCR), and membrane fluidity have all been shown to be affected by steroid hormones. [9] Of these, GPCR linked proteins are the most more information on these proteins and pathways, visit the steroid hormone receptor page.

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Corticosteroid-binding globulin deficiency

corticosteroid-binding globulin deficiency


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