Early central blood pressure elevation in adult patients with 21-hydroxylase deficiency.

CONTEXT: Controversial data exist on cardiovascular damages in patients with congenital adrenal hyperplasia (CAH). OBJECTIVE: To assess blood pressure and early cardiovascular damages on a large cohort of adult CAH patients and control individuals. DESIGN: Case-control study. SETTING: Referral Center for Rare Disease, Pitié Salpêtrière Hospital, Paris, France. PATIENTS OR OTHER PARTICIPANTS: Fifty-eight women and 26 men with CAH diagnosed in childhood and 85 controls matched-paired for sex, age and smoking status were prospectively included. INTERVENTION: Measurement of large arteries and microcirculatory anatomical and functional indices as well as hormonal status and cardiovascular risk factors evaluation. MAIN OUTCOME MEASURE: The primary objective was to compare carotid intima-media thickness (cIMT) in CAH patients and controls. The secondary objectives were to compare blood pressure (BP), radial augmentation index (rAI), central BP, carotid-femoral pulse wave velocity (PWV), skin microcirculation indices and inflammation parameters in CAH patients and controls. RESULTS: Although PWV and cIMT were identical in patients and controls, higher rAI (64.6 ±â€Š1.7 vs. 59.9 ±â€Š1.6%, P = 0.02) and higher central SBP (101.8 ±â€Š1.5 vs. 95.1 ±â€Š1.5 mmHg, P < 0.001) were observed in CAH patients. Regarding microcirculatory indices, there was a higher functional resting capacity and a lower anatomical capillary density in CAH patients. In multivariate analysis, we found an independant association between CAH and central SBP elevation. CONCLUSION: We found an early rise in central SBP in CAH patients whereas sublinical arterial damages markers were normal. Our study suggest that vascular damages and increased cardiovascular risk could be mainly BP-driven.

Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia.

AIM: Adverse outcomes in adult congenital adrenal hyperplasia (CAH) patients are frequent. The determinants of them have not yet been established. OBJECTIVE: To establish the prevalence of adverse outcomes and to find determining factors for each of them. DESIGN, PATIENTS, AND METHODS: Cross-sectional monocentric study of 104 patients with childhood onset of CAH (71 women, 33 men). Analysis established first the determinants of clinical, hormonal, genetic variables and second a composite criterion for some of the outcomes and determinants. RESULTS: BMI was above 25 kg/m(2) in 44% of the cohort, adrenal hyperplasia and/or nodules were present in 45% of the patients, and irregular menstrual cycles and hyperandrogenism were found in 50 and 35% of the women respectively. In univariate analysis, the determinants of these outcomes were all linked to disease control, especially 17-hydroxyprogesterone (17OHP) and androstenedione concentrations. Low weight was a determinant of abnormal bone mineral density (BMD) (60% of the cohort). Multivariate analysis confirmed these data. A classic form (CF) of CAH was a determinant of testicular adrenal rest tumors (TARTs) (36% of the men). Total cumulative glucocorticoid dose was a determinant of BMI and TART, whereas fludrocortisone dose was a determinant of TART (P=0.03). In men, the composite criterion was associated with androstenedione concentration and CF. In women, the composite criterion was associated with total testosterone concentration. CONCLUSION: The present study confirms the high prevalence of adverse outcomes in CAH patients. These are, most often, related to disease control. The impaired health status of adults with CAH could therefore be improved through the modification of treatment.