Cameron-Pimblett, Antoinette;
La Rosa, Clementina;
Davies, Melanie C;
Suntharalingham, Jenifer P;
Ishida, Miho;
Achermann, John C;
Conway, Gerard S;
(2024)
Characterization of Turner Syndrome-associated Diabetes Mellitus.
The Journal of Clinical Endocrinology & Metabolism
, Article dgae357. 10.1210/clinem/dgae357.
(In press).
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Abstract
Context: Diabetes mellitus (DM) risk factors in Turner syndrome (TS) may include autoimmunity, obesity, β-cell dysfunction, genetic predisposition, and insulin resistance (IR). // Objective: This work aimed to evaluate glucose tolerance and DM risk factors in adults with TS. // Methods: A single-center study with 2 phases was conducted to determine the prevalence of DM and to assess DM risk markers comparing women with TS with and without impaired glucose tolerance (IGT). The study took place at a tertiary referral center, University College Hospitals. A total of 106 women with TS (age range, 18-70 years) undergoing annual health surveillance underwent oral glucose tolerance tests (OGTTs), with additional samples for autoimmunity and genetic analysis. Main outcome measures included glucose tolerance, insulin, autoimmune, and single-nucleotide variation (SNV) profile. // Results: OGTT screening showed that among those without a previous DM diagnosis, 72.7% had normal glucose tolerance, 19.5% had IGT, and 7.6% were newly diagnosed with DM. OGTT identified more cases of DM than glycated hemoglobin A1c sampling alone. Women with IGT or DM were older, with higher body mass index and IR. No association was found between autoimmune markers glutamic acid decarboxylase (GAD), islet antigen-2, and zinc transporter 8, risk karyotypes, or selected SNVs and DM. In DM cases, GAD positivity was associated with requirement for insulin therapy. The median age of onset of the diagnosis of DM was 36 years (range, 11-56 years). // Conclusion: In the spectrum of DM subtypes, TS-associated DM lies between type 1 and type 2 DM with features of both. Key factors include weight and IR. Assessing C-peptide or GAD antibodies may aid future insulin requirement.
| Type: | Article |
|---|---|
| Title: | Characterization of Turner Syndrome-associated Diabetes Mellitus |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1210/clinem/dgae357 |
| Publisher version: | http://dx.doi.org/10.1210/clinem/dgae357 |
| Language: | English |
| Additional information: | Copyright © The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. See the journal About page for additional terms. |
| Keywords: | Turner syndrome, diabetes mellitus, autoimmunity, glucose homeostasis, SNVs, genetic variability |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10196641 |
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