Other symptoms reported by sufferers include but are not limited to: nausea, vomiting, fatigue, photophobia (dislike of and pain caused by bright light), problems with balance and spatial awareness, aphasia (difficulty using or understanding words), disorientation, loss of short-term memory (sometimes also long-term memory loss), confusion, feeling 'spaced out', decreased depth perception and peripheral vision. Some children are often too young to report their symptoms adequately and can present with many nonspecific symptoms such as mood swings and more. Although many sufferers have symptoms in common, each sufferer is an individual and should be treated accordingly.
Congenital adrenal hyperplasia is a metabolic disorder related to enzymatic defects in the biosynthesis of cortical steroids. Typically the defects are inherited in an autosomal recessive manner, and within a particular family all inherit the same enzyme deficiency (1).
"The whole body 11bHSD1 activity reflects mainly hepatic expression. Initial studies that relied on measurements of cortisol-to-cortisone metabolites in urine (23,36) should be taken with caution as indicative of 11bHSD1 activity, because several other cortisol and cortisone metabolizing enzymes are deregulated in obesity (36). Of greater importance is the finding of reduced hepatic 11bHSD1 activity measured by the conversion of orally administered cortisone to cortisol (23,37). Thus, 11bHSD1 upregulation in obesity seems not to be a generalized process. In both the whole body and the splanchnic circulation there are no differences between obese and lean subjects regarding cortisol regeneration rates (as measured by [2H4]-cortisol tracer), presumably because an upregulation in adipose tissue is counterbalanced by a downregulation in the liver (15).