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Article

[Non-classical 21-hydroxylase deficiency: clinico-hormonal discrepancies and intrafamilial phenotypic variability].

Revista clinica espanola - 1 Jun 1999

Relimpio Astolfi F, Mangas Cruz M A, Losada Viñau F, Pumar López A

Abstract excerpt

BACKGROUND: We report here two families illustrating the intrafamilial phenotypic variety of the non-classical 21-hydroxylase deficiency and other discrepancies between clinical and hormonal data. PATIENTS, METHODS AND RESULTS: The index case in the first family had a mild hirsutism which appeared peripuberally and basal 17-hydroxyprogesterone over the measurement limit. One of her sister, without hair excess,...

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Source

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PMID: 10432811

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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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Extensive clinical experience: nonclassical 21-hydroxylase deficiency.Semantic proximity Read ↗

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