Congenital Adrenal Hyperplasia: Molecular Genetics and Alternative Approaches to Treatment

摘要: Several autosomal recessive disorders affecting the adrenal cortex and its development leading to defective cortisol biosynthesis are known under collective term “congenital hyperplasia” (CAH). Over last two decades, genes causing most of these have been identified molecular genetics may supplement their clinical biochemical diagnosis. In addition, new treatments emerged; although gene therapy has yet be applied in humans, studies ongoing transfer adrenocortical cell lines animal models. this review, after a brief introduction on developmental biology biochemistry enzymes, we will list developments treatment diseases CAH, starting with recent findings. This order happens follow steroidogenesis from mitochondrial entry cholesterol synthesis; it is unlike other presentations CAH syndromes that start freque...