First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic

Abstrakt

We characterized a case of congenital adrenal insufficiency caused by cholesterol side-chain cleavage enzyme (P450scc) deficiency. We confirmed primary adrenal insufficiency.

The mutation was confirmed in the CYP11A1 gene. So far, only 19 patients with CYP11A1 mutations causing P450scc deficiency have been reported worldwide.

Klíčová slova

• cholesterol side-chain cleavage enzyme (P450scc)
• CYP11A1 gene
• gonadal deficiency
• lipoid congenital adrenal hyperplasia
• primary adrenal insufficiency
• P450scc deficiency