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 journalArticle

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

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Sex Chromosome Aberrations
Steroid 21-Hydroxylase
Fetus
Odds Ratio
17-alpha-Hydroxyprogesterone
Klinefelter Syndrome
Turner Syndrome
Survival
Mutation Rate
Missense Mutation
Heterozygote
Chromosome Aberrations
Genes
Exons
Pregnancy
Population

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations? / Mantovani, Vilma; Dondi, Elisabetta; Larizza, Daniela; Cisternino, Mariangela; Bragliani, Michela; Viggiani, Mariagabriella; Martinetti, Miryam; Cuccia, Mariaclara.

In: European Journal of Human Genetics, Vol. 10, No. 2, 2002, p. 137-140.

Research output: Contribution to journalArticle

Mantovani, Vilma ; Dondi, Elisabetta ; Larizza, Daniela ; Cisternino, Mariangela ; Bragliani, Michela ; Viggiani, Mariagabriella ; Martinetti, Miryam ; Cuccia, Mariaclara. / Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?. In: European Journal of Human Genetics. 2002 ; Vol. 10, No. 2. pp. 137-140.
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AU - Bragliani, Michela

AU - Viggiani, Mariagabriella

AU - Martinetti, Miryam

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