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Article

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

Arquivos brasileiros de endocrinologia e metabologia - 1 Aug 2014

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

Abstract excerpt

3β-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) are characteristic, but extra-adrenal conversion to...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25211449
DOI: 10.1590/0004-2730000003098

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25211449-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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