[Clinical and genetic analysis of 11β-hydroxylase deficiency].

OBJECTIVE

To explore the clinical and genetic characteristics of two patients with 11 β-hydroxylase deficiency (11 β-OHD).

METHODS

The clinical features and laboratory data were collected from the patients and their families. All exons of CYP11B1 gene were amplified by PCR. And the PCR product sequences were identified by a DNA analyzer.

RESULTS

Two patients presented with juvenile hypertension with bilateral adrenal hyperplasia and congenital hypospadias, hypertension for 17 years and periodic hematuria for 3 months after dexamethasone therapy respectively. Steroid analysis showed the typical pattern of 11 β-OHD: elevated plasma levels of adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone (17OHP), 11-deoxycortisol, androstenedione and testosterone and lowered levels of potassium, aldosterone and plasma renin activity (PRA). CT scan revealed the presence of bilateral nodular hyperplasia of adrenal glands. Sequencing analysis showed compound heterozygous mutations of [R453Q]+[R454C] at exon 8 in patient 1 and homozygous mutation of [R454C] at exon 8 in patient 2.

CONCLUSIONS

11 β-OHD is the second major cause of congenital adrenal hyperplasia. The classic characteristics are hypertension with low a level of PRA, hypokalemia, female pseudohermaphroditism and male sexual precocity. 11 β-OHD should be screened in the patients with juvenile onset hypertension accompanied by bilateral adrenal hyperplasia.