Reproductive endocrinology

The Influence of X Chromosome Parent-of-Origin on Glycemia in Individuals with Turner Syndrome

Horm Res PaediatrPublished Cross-sectional study

Authors' conclusion

Maternal Xchr monosomy predicts higher glucose concentration than paternal Xchr monosomy in response to oral glucose in 45,X individuals. This effect is obscured when including individuals who are mosaic, potentially due to the presence of both parent Xchrs in the non-45,X cell line.

Study context

Population
Individuals with Turner syndrome (TS), 45,X karyotype, from the TS: Genotype Phenotype study, with X chromosome (Xchr) parent-of-origin assessment and a 3-h oral glucose tolerance test (OGTT)45,X karyotype
Participants
81 individuals
Exposure
Maternal vs paternal Xchr monosomy
Outcome
Incremental area under the glucose curve (iAUC) on OGTT, predicted by Xchr parent-of-origin, age and/or BMI
Follow-up
3-h OGTT
Methodological detailsparallel-slopes multiple linear regression
  • Parallel-slopes multiple linear regression

Main finding

As reported in the abstract

Predictors of iAUC glucose (45,X)

Age, β

0.36

p = 0.0004

Body mass index (BMI), β

0.33

p = 0.001

Xchr parent-of-origin, β

0.21

p = 0.01

Observational data: associations, not effects.

Further findings

iAUC glucose including 62 additional individuals with 45,X mosaicism

Overall model remained statistically significant; Xchr parent-of-origin no longer significant

Original publication

The Influence of X Chromosome Parent-of-Origin on Glycemia in Individuals with Turner Syndrome. Horm Res Paediatr. Published 18 November 2024. doi:10.1159/000542677

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