3?-hydroxysteroid dehydrogenase type II deficiency on newborn screening test

Autor: Araújo, Vitor Guilherme Brito de, Oliveira, Renata Santarem de, Gameleira, Kallianna Paula Duarte, Cruz, Cátia Barbosa, Lofrano-Porto, Adriana

Publikováno v: Arquivos Brasileiros de Endocrinologia & Metabologia v.58 n.6 2014
Arquivos Brasileiros de Endocrinologia & Metabologia
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Arquivos Brasileiros de Endocrinologia & Metabologia, Volume: 58, Issue: 6, Pages: 650-655, Published: AUG 2014

3b-hydroxysteroid dehydrogenase II (3β-HSD) deficiency represents a rare CAH variant. Newborns affected with its classic form have salt wasting in early infancy and genital ambiguity in both sexes. High levels of 17-hydroxypregnenolone (Δ517OHP) ar

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3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.

Autor: Araújo VG; Molecular Pharmacology Laboratory, Faculty of Health Sciences, University of Brasilia, Brasilia, DF, Brazil., Oliveira RS; Molecular Pharmacology Laboratory, Faculty of Health Sciences, University of Brasilia, Brasilia, DF, Brazil., Gameleira KP; Genetics Unit, Hospital de Apoio de Brasilia, Brasilia, DF, Brazil., Cruz CB; Pediatric Endocrinology Unit, University Hospital of Brasilia, UnB, Brasilia, DF, Brazil., Lofrano-Porto A; Molecular Pharmacology Laboratory, Faculty of Health Sciences, University of Brasilia, Brasilia, DF, Brazil.

Publikováno v: Arquivos brasileiros de endocrinologia e metabologia [Arq Bras Endocrinol Metabol] 2014 Aug; Vol. 58 (6), pp. 650-5.