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Article

A particular phenotype in a girl with aldosterone synthase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Jul 2004

Williams Tracy A, Mulatero Paolo, Bosio Maurizio, Lewicka Sabina, Palermo Mario, Veglio Franco, Armanini Decio

Abstract excerpt

Aldosterone synthase deficiency (ASD) usually presents in infancy as a life-threatening electrolyte imbalance. A 4-wk-old child of unrelated parents was examined for failure to thrive and salt-wasting. Notable laboratory findings were hyperkalemia, high plasma renin, and low-normal aldosterone levels. Urinary metabolite ratios of corticosterone/18-hydroxycorticosterone and 18-hydroxycorticosterone/aldosterone...

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Identifiers

PMID: 15240589
DOI: 10.1210/jc.2003-031912

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

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