Abstract
Patients with Turner syndrome (TS) are at increased risk for metabolic disorders. We aimed to delineate the occurrence and evolution of metabolic comorbidities in TS patients and to determine whether these differ in 45,X monosomy and other karyotypes. A longitudinal and cross-sectional retrospective cohort study was conducted in a tertiary pediatric endocrine unit during 1980-2016. Ninety-eight TS patients, 30 with 45,X monosomy were followed from childhood to early adulthood. Outcome measures included weight status, blood pressure (BP), glucose metabolism, and lipid profile. Longitudinal analysis showed a significant change in body mass index (BMI) percentiles over time [F(3,115) = 4.8, P = 0.003]. Age was associated with evolution of elevated BP [systolic BP: odds ratio (OR) = 0.91, P = 0.003; diastolic BP: OR = 0.93, P = 0.023], impaired glucose metabolism (HbA1c: OR = 1.08, P = 0.029; impaired glucose tolerance: OR = 1.12, P = 0.029), and abnormal lipid profile (cholesterol: OR = 1.06, P = 0.01; low-density lipoprotein cholesterol: OR = 1.07, P = 0.041; high-density lipoprotein cholesterol: OR = 1.07, P = 0.033). The occurrence of metabolic comorbidities was similar in 45,X monosomy and other karyotypes. Coexistence of multiple metabolic comorbidities was significantly higher in 45,X monosomy [F(1,72) = 4.81, P = 0.032]. BMI percentiles were positively correlated with metabolic comorbidities (occurrence and number) in each patient (r = 0.35, P = 0.002 and r = 0.383, P = 0.001, respectively). Our longitudinal study provides unique insights into the evolution of weight gain and metabolic disorders from childhood to early adulthood in TS patients. Since overweight and increasing age aggravate the risk for metabolic comorbidities, careful surveillance is warranted to prevent and control obesity already from childhood. The more prominent clustering of metabolic comorbidities in 45,X monosomy underscores the importance of a more vigorous intervention in this group.
Highlights
Turner syndrome (TS) is the most common chromosomal abnormality in girls, affecting approximately 1:2,500 of female live births [1]
growth hormone (GH) therapy was administered to 56% of the cohort; the rate of GH treatment, the age at initiation of therapy and the duration of therapy were similar in the two groups
The cardinal manifestations of TS during childhood and adolescence are short stature and sexual infantilism, a wide spectrum of cardiometabolic risk factors has its start in childhood, increasing the risk for atherosclerosis and cardiovascular disease across the patient’s lifespan [11, 12, 20,21,22,23]. The evolution of these metabolic disorders from childhood to adulthood has not yet been completely defined. In this longitudinal retrospective study of a relatively large cohort of TS patients followed in our institution from childhood to early adulthood, we found that the prevalence of overweight/ obesity and cardiometabolic disorders identified in childhood increased with age
Summary
Turner syndrome (TS) is the most common chromosomal abnormality in girls, affecting approximately 1:2,500 of female live births [1]. While the association between distinctive metabolic derangements and various TS karyotypes has been demonstrated in previous studies [4, 8, 9] the evolution of these comorbidities from childhood to young adulthood in TS patients with various karyotypes has not been thoroughly assessed. Our institutional policy is to offer continuing surveillance to TS patients till the mid-twenties by a multidisciplinary team aware of the complex and interrelated issues impacting on the health of these individuals.
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