An update to 21-hydroxylase deficient congenital adrenal hyperplasia.

摘要: Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-OH) is distinguished in classical (C-CAH) and non-classical form (NC-CAH), it also one most common autosomal recessive inherited disorders humans. The prevalence C-CAH between 1:10,000 1:15,000 among live neonates North America Europe while NC-CAH occurs approximately 0.2% general white population. highest incidence CAH (1:282 1:2141, respectively) has been evaluated Yupik Eskimos Alaska populations island La Reunion (France), lower was detected New Zealand newborns (0.3%). Nowadays, established that except for cortex cases, medulla affected. In human 21-OH deficient gland discovered not only chromaffin cells formed extensive neurites, expanding adrenocortical cells, but androgens promote outgrowth, whereas glucocorticoids preserve neuroendocrine cells. It seems normal cortisol secretion by necessary adrenomedullary organogenesis. synthesis controlled active CYP21A2 gene located at a distance 30 kb from highly homologous pseudogene designated CYP21A1P.