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Article

Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Jun 2002

Lutfallah Chantal, Wang Weihua, Mason J Ian, Chang Ying Tai, Haider Anzar, Rich Barry, Castro-Magana Mariano, Copeland Kenneth C, David Raphael, Pang Songya

Abstract excerpt

To define the hormonal criteria via genotypic proof for 3beta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency in the adrenals and gonads, we investigated the type II 3beta-HSD genotype in 55 patients with clinical and/or hormonal presentation suggesting compromised adrenal with or without gonadal 3beta-HSD activity. Fourteen patients (11 males and 3 females) had ambiguous genitalia with or without salt...

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Identifiers

PMID: 12050224
DOI: 10.1210/jcem.87.6.8615

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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