Endocrine Abstracts

Introduction: Adults with Turner syndrome (TS) are at increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the compliance with clinical guidelines (Bondy 2007) in measuring metabolic profiles in adults with TS.

Methods: Case notes of patients attending a dedicated TS clinic were studied. Variables assessed included anthropometric measurements, blood pressure (BP), fasting plasma glucose (FPG), HbA1c, fasting lipid profile, and thyroid function.

Results: Of 40 women with TS (mean age 35.9 years (18–56 years)), karyotyping was available on 70%: 17.5% had monosomy (45,X); 52.5% had other X chromosome abnormalities (mosaic 45,X/46,XX, ring X chromosome, isochromosome Xq, deletions Xp, and other structural abnormality of Y chromosome). Anthropometric and BP measurements were performed in all patients. FPG, HbA1c, fasting lipid profile, and thyroid function were measured in 90, 82, 92.5, and 100% of women respectively. 27.5% were overweight and 35% were obese. 10% had impaired glucose tolerance and 7.5% had type 2 diabetes mellitus. 67.5% had LDL-cholesterol between 2.5 and 4 mmol/l and 7.5% had LDL-cholesterol more than 4 mmol/l. 15% had triglycerides level between 1.7 and 2.3 mmol/l and 5% had triglycerides more than 2.3 mmol/l. 27.5% were on antihypertensive medications.17.5% were on cholesterol-lowering medications. 40% had primary hypothyroidism on L-thyroxine replacement. Systolic BP was significantly higher in monosomy group than those with other X chromosome abnormalities (128±7 mmHg vs 117±12 mmHg, P=0.034). There were no significant differences in age, BMI, diastolic BP, HbA1c, lipid profiles, use of cholesterol-lowering medications or HRT between women with monosomy and those with other X chromosome abnormalities.

Conclusion: Service evaluation reveals good performance in measuring metabolic parameters in women with TS. Overweight/obesity, hypertension, and dyslipidaemia are common in our group of patients. Ongoing efforts are aimed at improving these cardiovascular risk factors.