The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene.

ABSTRACT:

Background

Aldosterone synthase (CYP11B2) deficiency is a rare autosomal recessive disorder, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. Neonatal screening for congenital adrenal hyperplasia, another cause of salt wasting, using 17-hydroxyprogesterone measurement would fail to detect aldosterone synthase deficiency, a diagnosis which may be missed until the patient presents with salt-wasting crisis. Due to this potential life-threatening risk, comprehensive hormonal investigation followed by genetic confirmation for suspected patients would facilitate clinical management of the patient and assessment of the genetic implication in their offspring.

Case presentation

We describe a 33-year old Chin

SUBMITTER: Hui E 

PROVIDER: S-EPMC3976226 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature