Aldosterone Synthase Deficiency Type II with Hypospadias.

Aldosterone synthase deficiency (ASD) type II was diagnosed in a 3 week old boy with severe dehydration. Elevated plasma renin activity, low-normal aldosterone, increased levels for 18- OH corticosterone (18-OHB) and 18-OH-deoxycorticosterone were measured. Sequencing revealed a homozygous mutation for c554C>T in exon 3 (p.T185I) (CYP11B2). Hypospadias has so far not been reported in ASD.