Bone mineral density in girls with classical congenital adrenal hyperplasia due to CYP21 deficiency.

AIM: To verify possible associations among glucocorticoid doses, use of dexamethasone, and bone mineral density (BMD), measured by dual X-ray absorptiometry (DXA) and quantitative computed tomography (QCT), in female children with congenital adrenal hyperplasia due to CYP21 deficiency (CAH-CYP21). Classical CAH-CYP21 in females allows the study of the effects of hyperandrogenism and chronic glucocorticoid exposure. DESIGN: Cross-sectional observational study. PATIENTS: Sixteen girls (4-19 years) with CAH-CYP21 and 32 age-matched control girls. MEASUREMENTS: BMD was the main outcome measure assessed by total body and lumbar spine L1-L4 DXA (DXAtot and DXAIs), lumbar spine L1-L4 bone mineral apparent density (BMAD) and spinal L1-L4 QCT of trabecular (QCTtrab) and cortical (QCTcort) bone. The glucocorticoid dose used by patients with CAH-CYP21 was expressed as hydrocortisone equivalents/m2. RESULTS: Mean BMD in both groups was similar by any method. In patients, BMD decreased with the increasing mean dose of glucocorticoid, seen in QCTcort (r = -0.55; p = 0.03) and QCTtrab (r = -0.52; p = 0.04). There was also a negative correlation between cumulative glucocorticoid dose and BMD in QCTcort (beta = -0.0016; p = 0.005) and QCTtrab (beta = -0.0009; p = 0.03). CONCLUSIONS: The dose of glucocorticoid used in the treatment of girls with CAH-CYP21 correlated negatively with BMD, and dexamethasone was not selectively harmful.

Portal vein thrombosis and high factor VIII in Turner syndrome.

BACKGROUNDS/AIMS: Turner syndrome is not usually associated with thrombotic events. The aim of this study is to report 3 Turner syndrome patients with portal vein thrombosis and, in 2 of them, high factor VIII. These findings are compared to values in Turner syndrome patients without thrombosis and controls. METHODS: In different years, 3 patients with Turner syndrome were initially seen at the Gastroenterology Clinic of Hospital de Clínicas de Porto Alegre, Brazil, for portal vein thrombosis. After the most common causes of portal vein thrombosis and thrombophilias had been excluded, the 2 surviving patients were studied for clotting factors VIII, IX and von Willebrand factor. The same factors were also assessed in 25 Turner syndrome patients without thrombosis and 25 normal girls. RESULTS: One of the patients with portal vein thrombosis died before the study. In the 2 surviving patients, factors VIII and von Willebrand levels were >150 IU/dl, which is considered to be high. In Turner syndrome patients without thrombosis, the mean factor VIII level was 127.2 +/- 41.1 IU/dl and for von Willebrand factor 101.2 +/- 26.9 IU/dl, while in control girls these were 116.0 +/- 27.6 and 94.28 +/- 27.5 IU/dl, respectively. Factor VIII and von Willebrand factor were not different between these 2 groups. When non-O blood group Turner syndrome patients and normal girls were compared, the former had significantly higher levels of factor VIII. CONCLUSIONS: This is the first report on the unusual finding of portal thrombosis in patients with Turner syndrome in whom high levels of factor VIII and von Willebrand factor were found. Factor VIII is higher in the non-O blood group Turner syndrome patients without thrombosis when compared to normal girls.