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Article

Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?

European journal of human genetics : EJHG - 1 Feb 2002

Mantovani Vilma, Dondi Elisabetta, Larizza Daniela, Cisternino Mariangela, Bragliani Michela, Viggiani Mariagabriella, Martinetti Miryam, Cuccia Mariaclara

Abstract excerpt

We investigated whether molecular defects in the CYP21 gene were detectable in two common sex chromosome aberrations, the Turner and the Klinefelter syndromes. We found abnormal 17-hydroxyprogesterone levels after adrenal stimulation in 26/60 (43.3%) patients affected by these chromosome aberrations, as compared with only 11/68 (16.2%) normal controls (P=0.0014, odds ratio 4.0). Screening of the CYP21 gene...

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Identifiers

PMID: 11938445
DOI: 10.1038/sj.ejhg.5200778

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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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