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.

Citation

Z Gucev, V Tasic, N Pop-Jordanova, F G Riepe. Aldosterone synthase deficiency type II with hypospadias. Indian pediatrics. 2012 Apr;49(4):318-20

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PMID: 22565077

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