title: Aldosterone synthase deficiency type II with hypospadias.
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.
authors.affiliation: Department of Endocrinology, University Childrens Hospital Skopje, Vodnjanska 17, 1000 Skopje, Macedonia. gucevz@gmail.com
authors.forename: Z
authors.initials: Z
authors.lastname: Gucev
authors.forename: V
authors.initials: V
authors.lastname: Tasic
authors.forename: N
authors.initials: N
authors.lastname: Pop-Jordanova
authors.forename: F G
authors.initials: FG
authors.lastname: Riepe
mesh_terms: D019405:Cytochrome P-450 CYP11B2 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D006994:Hypoaldosteronism / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D007021:Hypospadias / Q000175:diagnosis* / Q000201:enzymology; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense
chemical_list: D019405:Cytochrome P-450 CYP11B2