Aldosterone synthase deficiency type II with hypospadias.
Indian Pediatr
; 49(4): 318-20, 2012 Apr.
Article
in En
| MEDLINE
| ID: mdl-22565077
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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hypoaldosteronism
/
Cytochrome P-450 CYP11B2
/
Hypospadias
Type of study:
Diagnostic_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Indian Pediatr
Year:
2012
Type:
Article