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Article

Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency.

The Tohoku journal of experimental medicine - 1 Aug 2008

Sugiyama Yukari, Mizuno Haruo, Hayashi Yutaro, Imamine Hiroki, Ito Tetsuya, Kato Ineko, Yamamoto-Tomita Manami, Aoyama Mineyoshi, Asai Kiyofumi, Togari Hajime

Abstract excerpt

Females with salt-wasting (SW) 21-hydroxylase deficiency (21OHD) may present with mild external genitalia virilization, despite complete or almost complete enzyme inactivation. We therefore analyzed genotype/phenotype correlation in 13 Japanese female patients with SW 21OHD. Criteria for classification into the SW phenotype included history of a salt-losing crisis with documented hyponatremia, hyperkalemia, and...

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Source

Identifiers

PMID: 18679008
DOI: 10.1620/tjem.215.341

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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