Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency is caused by mutation in
the CYP21A2 gene. The frequency and spectrum of CYP21A2 mutations and genotype-
phenotype correlations among different populations are variable. Aim of this study was to
define mutation frequency and spectrum of CYP21A2 gene mutations in patients with
classical 21-hydroxylase deficiency (21OHD) and their family members in Croatia and study
genotype-phenotype correlation. Clinical features and mutations of CYP21A2 gene in 93 …

… In the present investigation, we studied 93 unrelated patients with the classical form of
CAH due to 21-OHD, and 193 first-degree relatives. In our cohort, there were … Table 1
Age and clinical presentation at diagnosis of 93 patients with classical congenital adrenal
hyperplasia due to 21-hydroxylase deficiency …