Objective: Adverse body compositional features and low bone mineral density (BMD) are the characteristic of patients with active Cushing's syndrome (CS). The aim of this study was to evaluate body composition and BMD in women with CS in long-term remission and the influence of polymorphisms in genes affecting glucocorticoid (GC) sensitivity on these end-points. Design, patients and methods: This was a cross-sectional, case-controlled study, including 50 women previously treated for CS and 50 age and gender-matched controls. Median (interquartile range) remission time was 13 (5-19) years. Body composition and BMD were measured with dual-energy X-ray absorptiometry. Five polymorphisms in four genes associated with GC sensitivity were analysed using TaqMan or Sequenom single-nucleotide polymorphism genotyping. Results: Patients with CS in remission had increased abdominal fat mass (P!0.01), whereas BMD was not significantly different at any site between patients and controls. In patients, the NR3C1 Bcl1 polymorphism was associated with reduced total (P!0.05) and femur neck BMD (P!0.05). The polymorphism rs1045642 in the ABCB1 gene was associated with increased abdominal fat mass (P!0.05) and decreased appendicular skeletal muscle mass (P!0.05). GC replacement was associated with reduced total BMD (P!0.01), BMD at lumbar spine (P!0.05) and increased abdominal fat (P!0.01). Conclusion: Ongoing GC replacement therapy together with polymorphisms in two genes related with GC sensitivity is associated with abdominal obesity and adverse skeletal health in patients with CS in long-term remission.

Context Primary aldosteronism (PA) is the most common cause of secondary hypertension. Yet, the incidence of PA in the general population has not been studied. Objective To estimate the incidence of PA in the general population. Design and methods Patients who had received a diagnostic code for PA between 1987 and 2016 were identified in the Swedish National Patient Registry. Assessment of clinical and biochemical data was used to validate the diagnosis. The annual incidence of PA was calculated by using the number of inhabitants in the Västra Götaland County as reference. Results Of 570 identified patients, 473 (83 %) had confirmed PA. Eligible for the incidence analysis were 416 patients, 248 (60%) men and 168 (40%) women, diagnosed with PA between 1987-2016. The mean (±standard deviation) age at diagnosis was 56±12 years. The median (interquartile range) annual incidence was 2 (1-2) cases per million between 1987 and 1996, 6 (4-9) cases per million between 1997 and 2006 and 17 (12-24) cases per million between 2007 and 2016. At the end of the study (December 31 st 2016), 386 patients with confirmed PA were alive and living in the Västra Götaland County, giving a prevalence of 231 cases per million (0.022%). Conclusions Despite increasing incidence, the proportion of patients identified with PA is lower than expected. Given the serious consequences of untreated PA, the noticeably low prevalence at the end of the study stresses the need to increase the awareness of PA among health care providers.

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