Endocrine Abstracts

Background: Increased hair cortisol concentrations are reported in Turner Syndrome (TS) patients compared to healthy controls (HC).(1) Increased cortisol exposure could contribute to cardiovascular, metabolic and bone morbidity in TS. Hair cortisol concentrations give no information about the circadian profile of cortisol, which is important for cardiovascular health. Cortisol is inactivated to cortisone by 11β hydroxysteroid dehydrogenase (11βHSD) type-2 and regenerated from cortisone by 11βHSD type-1. In this pilot study, we compare the circadian profile of salivary cortisol (SC) and cortisone (SCn), and ratio of the same, in girls with TS compared to HCs.(2)

Methods: Saliva samples were collected 30 minutes after waking, every two waking hours for 24-hours and analysed for SC and SCn in girls with genetically confirmed TS. Participants were matched (1:1) for sex-and-age with HCs from the same region.(2)

Results: Ten patients, aged 14.1±2.3years, body mass index (BMI) standard deviation score (SDS) 0.9±1.5 were matched with ten HCs aged 14.1±2.4years, BMI SDS 1.5±1.1. Area under the curve (AUC) for SC was higher in TS girls compared to HC [45.8 (95%CI 17.3-74.2)nmol/l vs 38.4 (95%CI 16.7-60.0)nmol/l] P=0.002. AUC for SCn did not differ (P=0.31). Compared to HCs, the circadian SC profile in TS patients was blunted: morning peak SC was less pronounced, concentrations were higher throughout the morning and declined to concentrations similar to HCs in afternoon samples. In both cohorts the ratio of SCn/SC, increased throughout the day, however this ratio was lower at all time-points, excluding the waking sample, in TS patients.

Discussion: These pilot data support a previous report of increased cortisol exposure in patients with TS, despite higher BMI in HC, which is associated with an increase in SC.(2) The circadian rhythm is intact, but blunted. Differences in the relative activity of 11βHSD 1and2 may contribute to increased cortisol exposure. These findings, and their clinical significance, warrant further investigation in larger cohorts.

We would like to thank the TSSS-UK for their support.

1. Savas M, et al. 2019. J. Clin. Endocr. 104(9): 3859-67.

2. itman A, et al. 2020. Clin. Endocrinol. (Oxf):93 (5): 572-8.