Aldosterone synthase deficiency type II with hypospadias |
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Authors: | Gucev Z Tasic V Pop-Jordanova N Riepe F G |
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Affiliation: | Department of Endocrinology, University Childrens Hospital Skopje, Vodnjanska 17, 1000 Skopje, Macedonia. gucevz@gmail.com |
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Abstract: | 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. |
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