Turner syndrome exposes patients to chronically higher cortisol levels, which are linked to short stature, elevated total cholesterol levels, and possibly a greater risk for cardiovascular disease, according to study results published in The Journal of Clinical Endocrinology & Metabolism.
To assess the associations between increased long-term cortisol concentrations and comorbidities in Turner syndrome, researchers prospectively observed 55 patients with Turner syndrome (average age, 31 years) and 110 matched community controls (average age, 35 years).
Each participant was measured for scalp hair cortisol concentrations, anthropometrics, and biochemical parameters, and patients were asked to complete psychological questionnaires for perceived stress, fatigue, and health-related quality of life.
Of the patients with Turner syndrome, 52.7% had the classical monosomy karyotype, while the remaining patients had X-mosaicism, isochromosome Xq, or other variants. Patients with Turner syndrome weighed less on average and were significantly shorter than controls (1.56 m vs 1.71 m, respectively; P <.001). Patients who had been treated with growth hormone were younger (median, 26 years vs 44 years; P <.001) and taller (median, 1.59 m vs 1.52 m; P =.006) than patients who had not received growth hormone treatment.
Compared with controls, patients with Turner syndrome had higher average hair cortisol concentrations (geometric mean, 3.51 pg/mg vs 2.39 pg/mg, respectively; P =.003) and worse cardiometabolic profiles, including fasting glucose and triglyceride levels. Hair cortisol concentration was found to be associated with total cholesterol levels (unadjusted β, 0.294; P =.047) but not with any psychological outcomes. Furthermore, higher hair cortisol concentration had a strong inverse association with height only in patients with Turner syndrome (unadjusted β, 0.307; P =.023).
Limitations to this study included its retrospective assessment of hair characteristics and absence of psychological assessments in controls.
“The long-term consequences of elevated chronic cortisol exposure in patients with Turner syndrome remain unanswered yet,” said the researchers. “Our finding of nearly 50% higher cortisol levels could, however, be relevant since subtle hypercortisolism was previously found to be related to a higher risk [for] cardiovascular events and mortality.”
Savas M, Wester VL, Dykgraaf RHM, et al. Long-term cortisol exposure and associations with height and comorbidities in Turner syndrome [published online April 11, 2019]. J Clin Endocrinol Metab. doi:10.1210/jc.2019-00148