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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 identified a single Val281Leu missense mutation in exon 7 in 9/63 (14.3%) of the patients, all nine of whom were heterozygote carriers; the mutation frequency was significantly higher than in the general population (P=0.007, odds ratio=3.5). The hormonal and molecular data indicate that these common sex chromosome aberrations are associated with a remarkably high frequency of steroidogenic defects. It may be hypothesised that reduced levels of steroid 21-hydroxylase could confer a survival advantage, leading to a successful pregnancy.

Original languageEnglish
Pages (from-to)137-140
Number of pages4
JournalEuropean Journal of Human Genetics
Volume10
Issue number2
DOIs
Publication statusPublished - 2002

Keywords

  • CYP21 gene
  • Klinefelter syndrome
  • Sex chromosomes
  • Steroid 21-hydroxylase
  • Steroid 21-hydroxylase deficiency
  • Turner syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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