Endocrine Abstracts (2018) 59 P101 | DOI: 10.1530/endoabs.59.P101

Characterisation of diabetes mellitus in turner syndrome - Turner syndrome life course project

Antoinette Cameron Pimblett1, Sasha Nair2, Clementina La Rosa2, Melanie C Davies2 & Gerard S Conway1


1University College London, London, UK; 2University College London Hospital, London, UK.


Introduction: Diabetes Mellitus (DM) is 2–4 times more common in Turner Syndrome (TS) than karyotype normal females. Diagnosis of DM in TS is usually based on age of presentation and insulin dependency without regard for DM- autoimmunity. Previous research has identified DM associations with the isochromosome and ring chromosome. However, only small numbers of diabetics have been included in reports so far. Here we present preliminary data on DM characterisation in TS.

Methods: Anthropometrics, body fat by impedance, fasting blood glucose and insulin were taken from diabetics. The following DM related autoantibodies tested were; GAD, IA-2, ZnT8. Duration of diabetes ranged from 1–14.7 years.

Results: There was no significant difference in karyotype distribution between those with DM and those without. Results are summarised in Table 1 *=P≤0.05. Raised BMI was the only significant factor associated with DM.

Table 1
TS without Diabetes (n=27)TS with Diabetes (n=13)
Age31.337.6
Weight (kg)56.169.2*
BMI25.831.4*
Waist Circumference (cm)84.8101.1*
Total Body Fat (%)26.133.9
Fasting insulin7.19
Fasting glucose4.69*
GAD0/272/13
IA21/271/13
ZnT81/271/13

Conclusions: This is the first study to explore DM specific autoantibodies in TS in detail. So far the data does not indicate the same autoimmune profile found in Type 1 DM. Similar to the general population obesity, characterised by an BMI and waist circumference, was identified as a risk factor of type 2 diabetes for women with TS.

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