Autor:	Z, Gucev, V, Tasic, N, Pop-Jordanova, F G, Riepe
Rok vydání:	2012
Předmět:	Male Hypospadias Infant Newborn Mutation Missense Cytochrome P-450 CYP11B2 Humans Hypoaldosteronism
Zdroj:	Indian pediatrics. 49(4)
ISSN:	0974-7559
Popis:	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 c554CT in exon 3 (p.T185I) (CYP11B2). Hypospadias has so far not been reported in ASD.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::cbba288b8c1a9363b7b1a6dbc5397cd7 https://pubmed.ncbi.nlm.nih.gov/22565077 Zobrazit plný text záznamu Full text from SpringerLink