Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive disorders. About 5–8% of cases are caused by the deficiency of steroid 11β-hydroxylase (CYP11B1) due to mutations in CYP11B1 gene. CYP11B1-inactivating mutations can be found without particular hot-spot spread over the entire gene. A good phenotype-genotype correlation exists for the patients suffering from 11β-hydroxylase deficiency (11OHD). The prediction of diseas...