Influence of HLA genotype on birth weight of patients with Turner syndrome

Daniela Larizza, Miryam Martinetti, Cinzia Pizzochero, Mariaclara Cuccia, Francesca Severi

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Growth failure starting before birth is a common characteristic in Turner syndrome, and its pathogenesis is still not completely explained. Experiments performed in mice and rats to test whether a genetic disparity between mothers and offspring and maternal immunological status have any influence on litter size have demonstrated that allogenic litters are significantly larger in size than genetically compatible ones. Studies in humans have given contrasting results, but some authors have found that heterozygosity at enzyme loci and in blood groups is positively correlated with intrauterine growth. HLA class I and II polymorphisms were defined in 53 patients with Turner syndrome and in their parents, and lymphocytotoxic antibody detection was performed in 36 mothers. These data were related to the patients' birth weight. The frequency of the HLA-B16 allele in patients with a birth weight > 10th centile was significantly higher in comparison with those <10th centile. HLA antigen sharing was present in 43 couples (81.1%). Mean birth weight was 2934 ± 472 g in patients without HLA antigen parental sharing and 2721 ± 529 g in those whose parents shared HLA antigens. The mean birth weight of the 10 patients whose parents do not share HLA antigens was significantly higher than that of the patients with parental HLA-B+DR sharing (P <0.05) and not significantly higher than in those patients with parental HLA sharing at other HLA loci. Patients whose parents shared B+DR antigens also had significantly smaller birth weights than those with B and A+B+DR sharing (P <0.025 and P <0.025). No significant difference in mean birth weight was found in relation to other parameters, such as mother-child histocompatibility, HLA homozygosity and lymphocytotoxic production in the mothers.

Original languageEnglish
Pages (from-to)383-387
Number of pages5
JournalHuman Genetics
Issue number4
Publication statusPublished - Feb 1992

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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