Endocrine Abstracts

Introduction: 45,X karyotype is known to be related to more severe phenotype disorders, still comparative analysis of the karyotypes and phenotypes in Turner syndrome (TS) is difficult, even in the largest studies, mainly due to differences in patient‘s age and variability in the definition of clinical features (1). We aimed: to assess if monosomia in Turner syndrome patients is related to their cardiometabolic features.

Methods: 75 females with confirmed TS ≥18 yrs were enrolled into the cross-sectional study. Patients were divided into 2 groups: 45,X group and non-45,X group (mosaicism, isochromosome, etc.). Standard clinical evaluation was performed (height, weight, body mass index (BMI), blood pressure (BP), heart rate (HR)). Levels of plasma glucose and lipids were assessed. Size of ascending aorta (adjusted for body surface area (BSA)) was evaluated by means of thoracic magnetic resonance angiography (1.5T) in four positions: aortic sinus (D1), sinotubular junction (D2), ascending aorta at the bottom edge of the right pulmonary artery (D3) and ascending aorta at the right proximal brachiocephalic artery (D4).

Results: 45,X karyotype was identified in 65.3% of the TS cohort. Age at investigation was similar in monosomia vs. non-45-TS groups (P=0.075). Lower BMI was found in non-45,X compared to 45, X patients (23.0 vs. 25.6 kg/m², respectively, P=0.028), they were significant taller (155 cm vs. 150 cm, respectively, P=0.004). Duration of Growth hormone treatment was comparable in both study groups (P=0.105). The diameter of aorta in D2 and D3 positions was larger in 45,X group (16.4 mm/m² vs. 14.8 cm/m², P=0.046 and18,2 mm/m² vs. 15.9 mm/m², P=0.028, respectively). The prevalence of congenital cardiovascular anomalies (bicuspid aortic valve, coarctation of aorta) was higher in 45,X patients (28.6% vs. 0%, P=0.001). No difference in BP, HR, levels of glucose and lipids was observed between the groups.

Conclusion: High prevalence of 45,X was found in Lithuanian Turner syndrome cohort. Monosomia was related to larger size of ascending aorta and higher body mass index.