Abstract
The most frequent form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency. A classic form of both CLAH and P450scc deficiency is characterized by a severe disorder of steroidogenesis in the adrenal glands and in the gonads.
All newborns have female external genitalia. The life-threatening adrenal insufficiency is manifested early after birth.
The patients present with late onset of primary adrenal insufficiency and undervirilised external genitalia in male patients (micropenis, cryptorchidism, hypospadias). We characterized a case of congenital adrenal insufficiency caused by P450scc deficiency.
The patient presented after birth with cardiopulmonary instability, hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. At the age of 12 years, we comfirmed hypergonadotropic hypogonadism, with revealed disorder of steroidogenesis in the adrenal glands and in the gonads.
The genetic testing confirmed mutation in the CYP11A1 gene leading to deficiency of cholesterol side-chain cleavage enzyme. There are no related reports in the Czech Republic.