A Compound Heterozygote Case of Type II Aldosterone Synthase Deficiency
نویسندگان
چکیده
منابع مشابه
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.
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2003
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2003-030353