Journal article
The Influence of X Chromosome Parent-of-Origin on Glycemia in Individuals with Turner syndrome
Hormone research in paediatrics, Vol.99(3)
04/2026
DOI: 10.1159/000542677
PMCID: PMC12085714
PMID: 39557026
Abstract
Introduction: The cause of increased diabetes mellitus (DM) risk in individuals with Turner syndrome (TS) is poorly understood. Parent-of-origin effects related to whether the maternal or paternal X chromosome (Xchr) remains intact have been found for several TS phenotypes, including hypercholesterolemia. Therefore, Xchr parent-of-origin may impact DM risk in TS. The aim of this study was to determine whether Xchr parent-of-origin affects glycemia, as measured by oral glucose tolerance test (OGTT), in TS. Methods: A total of 81 individuals with 45,X karyotype from the TS: Genotype Phenotype study had Xchr parent-of-origin assessment and completed a 3-hour OGTT. Parallel-slopes multiple linear regression modeling was used to test whether Xchr parent-of-origin, age, and/or body mass index (BMI) significantly predicted incremental area under the glucose curve (iAUC). A second analysis included 62 additional individuals with 45,X mosaicism. Results: All three factors predicted iAUC glucose in the 81 individuals with 45,X karyotype (age: B = 0.36, p = 0.0004; BMI: B = 0.33, p = 0.001; Xchr parent-of-origin: B = 0.21; p = 0.01). The overall model remained statistically significant when including individuals with 45,X mosaicism, but Xchr parent-of-origin was no longer significant. Conclusions: 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.
Details
- Title: Subtitle
- The Influence of X Chromosome Parent-of-Origin on Glycemia in Individuals with Turner syndrome
- Creators
- Catherina T. Pinnaro - University of IowaBlake Irvin Zimmerman - University of IowaKelli K. Ryckman - Indiana UniversityBenjamin W. Darbro - University of IowaAndrew W. Norris - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Hormone research in paediatrics, Vol.99(3)
- DOI
- 10.1159/000542677
- PMID
- 39557026
- PMCID
- PMC12085714
- NLM abbreviation
- Horm Res Paediatr
- ISSN
- 1663-2818
- eISSN
- 1663-2826
- Publisher
- KARGER
- Number of pages
- 15
- Grant note
- National Institutes of Health: K23 DK134810, R00 HD065786, R01 DK115791
This work was supported by the National Institutes of Health (K23 DK134810 to CTP, R00 HD065786 to KKR, and R01 DK115791 to AWN).
- Language
- English
- Electronic publication date
- 11/18/2024
- Date published
- 04/2026
- Academic Unit
- Endocrinology and Diabetes; Stead Family Department of Pediatrics; Epidemiology; Medical Genetics and Genomics; Biochemistry and Molecular Biology
- Record Identifier
- 9984749256102771
Metrics
65 Record Views