Long-term cortisol exposure and associations with height and comorbidities in Turner syndrome

Abstract:

Context: Turner syndrome (TS), a common genetic disorder in women, usually manifests in traits as short stature and premature ovarian failure. Many patients also have an increased risk of cardiometabolic disorders and psychological distress which are features that overlap with those of a prolonged hypercortisolistic state. Long-term cortisol levels in TS are however not explored yet.

Objective: To investigate whether TS is associated with increased long-term cortisol concentrations as measured in scalp hair and whether these are linked to cardiometabolic and psychological parameters.

Design: Prospective observational case-control study.

Setting: Academic outpatient TS expertise center.

Participants: Fifty-five patients with TS (53% 45,X karyotype), and 110 age-matched female community controls from the general population-based Lifelines cohort study.

Main outcome measures: Hair cortisol concentrations (HCC), anthropometrics, biochemical parameters, and psychological questionnaires for perceived stress (PSS-14), fatigue (CIS-20), and health-related quality of life (RAND-36).

Results: In comparison to matched controls, patients with TS had higher HCC (geometric mean, 3.51 pg/mg [95% CI, 2.64 to 4.65] vs. 2.39 pg/mg [2.13 to 2.68], P=.003) and a worse cardiometabolic profile in terms of fasting glucose, and triglycerides. HCC was only associated with total cholesterol levels (standardized β=.294 , P=.047), and showed no relationship with any of the psychological outcomes. Interestingly, a higher HCC was inversely associated with height in TS only (standardized β=-.307 , P=.023).

Conclusions: Patients with TS are chronically exposed to higher cortisol levels, which is associated with short stature and increased total cholesterol levels, and potentially contributes to the known elevated cardiovascular disease risk.