Clinical and molecular review of atypical congenital adrenal hyperplasia

• Autor principal: Taninee Sahakitrungruang (Autor)
• Formato: Livro
• Publicado em: Korean Society of Pediatric Endocrinology, 2015-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis. More than 90% of cases are caused by a defect...