Cardiovascular findings and management in Turner syndrome: insights from a French cohort.

OBJECTIVE: Congenital cardiovascular malformations and aortic dilatation are frequent in patients with Turner syndrome (TS). The objective of this study was to investigate the cardiovascular findings and management in a large cohort of patients, including children and adults. DESIGN/METHODS: We recruited 336 patients with TS from a network of tertiary centers. We reviewed their files, checking for cardiovascular events, cardiac valve abnormalities, and aortic diameters indexed to body surface area (BSA) from magnetic resonance imaging (n=110) or echocardiography (n=300). RESULTS: Informative cardiovascular data were available for only 233 patients. Vascular surgery was reported in 7.4% of the cohort. The first cause of surgery was aortic coarctation, detected in 6.9% at a median age of 9.5 (range: 0-60) years. Bicuspid aortic valve (BAV) was detected in 21% at a median age of 20 years (25th-75th percentiles: 15-30). At least one aortic diameter exceeded 32 mm in 12% of the cohort. This was detected at a median age of 19 (7-30) years. When indexed to BSA, at least one aortic diameter exceeded 20 mm/m(2) in 39% of the cohort. CONCLUSION: Our study shows that cardiovascular monitoring for TS patients is currently insufficient in France. BAV is present at birth, but often remains undiagnosed until later in life. Therefore, improved management in cardiovascular monitoring is required and a more systematic approach should be taken.

High risk of adrenal insufficiency after a single articular steroid injection in athletes.

PURPOSE: To determine whether a single intra- or periarticular injection of corticosteroid for posttraumatic or microtraumatic articular injuries in young healthy subjects can induce a biological suppression of hypothalamo-pituitary-adrenal axis activity and reactivity. METHODS: Ten healthy young male athletes (aged 28.8 +/- 2.5 yr) received a single intra- or periarticular injection of either cortivazol (available in Europe but not in the United States) or betamethasone. Morning cortisol levels were measured on four occasions: the day of steroid injection (D0) and 2 d (D2), 7 d (D7), and 14 d (D14) later. During the second visit (D2), a short ACTH test (1 microg) was performed. RESULTS: Two days after corticosteroid administration, adrenal insufficiency (cortisol levels below 100 nM and/or blunted peak cortisol after stimulation with 1 microg of ACTH) occurred in 9 of the 10 subjects. Seven days after steroid injection, cortisol levels were still lower than basal values in all subjects (48.2 +/- 7.3% of D0 levels), and five subjects had abnormal cortisol levels (< 260 nM). Fourteen days after steroid injection, cortisol levels remained significantly lower than preinjection levels (P = 0.02), averaging only 77.3 +/- 8.3% of D0 levels, and three participants remained with abnormal cortisol levels. The extent of biological adrenal suppression was directly related to the steroid dose injected. CONCLUSION: As some athletes are exposed to a high risk of trauma, which can lead to an acute adrenal crisis, they should be informed about the risk of adrenal insufficiency after an intra- or periarticular corticosteroid injection, and they should report any symptoms to their physician.

Mutations in the human leptin and leptin receptor genes as models of serum leptin receptor regulation.

A part of serum Ob leptin, an adipocyte-secreted peptide, is bound to a soluble Ob receptor (sObR). Immunoreactive sObR was measured in 125 lean or obese control subjects (group 1), 18 individuals with a mutation in the leptin gene impairing leptin secretion (group 2), and 10 individuals with a mutation in the ObR gene, leading to production of a truncated ObR not anchored to cell membranes (group 3). In group 1, sObR levels were negatively correlated with age and BMI in children and with BMI in adults. sObR levels were also negatively correlated with leptin levels. Leptin binding activity and sObR levels coeluted in gel-filtration chromatography. In group 2, sObR levels did not differ from those in lean control subjects and were not correlated with BMI. A single peak was detected in chromatographic fractions. In group 3, sObR levels were high and positively correlated with BMI. Immunoreactive sObR coeluted with leptin binding activity. These data demonstrate that leptin is not needed for ObR gene expression, and they suggest that leptin plays a role in receptor downregulation because sObR levels are negatively correlated with leptin levels and BMI in control subjects, whereas sObR levels are not depressed in obese leptin-deficient or leptin receptor-deficient individuals.