Background: Turner syndrome (TS) is a genetic disorder caused by X chromosome monosomy (45,X0) or partial absence of the second sex chromosome, with or without mosaicism. An increased frequency of autoimmune diseases and metabolic disorders has been observed in Turner patients.
Objective: To compare Turner monosomy to the other X chromosome abnormalities with regards to occurrence of autoimmune diseases and metabolic disorders.
Methods: Retrospective study of 103 TS patients followed at the Institute for Endocrinology and Diabetes, SCMCI during 19602013.
Results: Monosomy was diagnosed in 30% of the cohort. The mean age at diagnosis was younger in 45,X0 compared to the other X chromosome abnormalities (6.2±5.5 vs 4±4.8yrs, P=.004); duration of follow-up (14.0±8.8 yrs) and age at patients last visit (21.9±9.6 yrs) were similar. The prevalence of autoimmune diseases [autoimmune thyroiditis (45.6%) and positive celiac serology (7.1%)] and age at onset were similar in both groups. BMI-SDS (TS charts) increased during follow-up; obesity at last visit was more prominent in girls with 45,X0 (P=.013). The percentage of patients with impaired glucose metabolism increased during follow-up: IFG (>100 mg/dL) from 10.6% to 17.9%; IGT (140199 mg/dl) from 23.8% to 30.5% and elevated HbA1c (>5.8%) from 12% to 16.7%. At last clinic visit, lipid profile levels were above the 90th centile for TC, LDL-cholesterol and TG in 29.1%, 23.5%, and 30.1% of the patients, respectively; systolic blood pressure was increased in 52.3% and diastolic blood pressure in 18.2% of the cohort. The prevalence of metabolic disturbances (glucose metabolism, lipid profile, and blood pressure) were similar in both groups.
Conclusions: In TS, an increased risk of autoimmune diseases and metabolic disorders were found regardless of the karyotype. Careful surveillance and early intervention in patients with monosomy and increased weight gain are warranted in an attempt to prevent obesity and thereby the risk for development of metabolic disorders.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology