ACTA ENDOCRINOLOGICA (BUC)

Cardiovascular disorders represented by congenital malformations, hypertension, aortic dilatation which can emerge in dissection or rupture and ischemic heart disease are common in Turner syndrome (TS) and life-threatening. Echocardiography and magnetic resonance imaging represent complementary diagnostic methods used to assess cardiovascular status. Unfortunately, normal reference ranges for cardiac and aortic measurements are established only in unselected TS patients, preventing a delineation between patients with and without cardiovascular pathology. We performed echocardiography in 15 patients with TS, aged 12-33 years (mean 21.8 years, standard deviation 6.37 years) without cardiovascular and renal malformations, hypertension or aortic dilatation and 30 normal controls; karyotype was 45,XO in 11 patients and 45,XO/46,XX in four patients. To minimize the influence of body size, ratios of aortic and cardiac chambers dimensions were calculated. As expected, we found smaller dimensions in TS versus controls but only the ascending aorta, left atrium and diastolic left ventricular diameters and the ratio diastolic / systolic left ventricular diameters reached statistical significance. Only aortic dimensions were entirely independent of age, height, weight and BMI with a 95% confidence interval of 14.28 – 25.32 (mean 19.8) mm for the aorta at the annulus and 95% CI 21.42 – 29.36 (mean 25.54) mm for the ascending aorta. The ratios ascending aorta/ systolic left ventricular diameter (95% confidence interval 0.54 – 1.34; mean 0.94), aorta at the annulus/systolic left ventricular diameter (95% CI 0.44 – 0.92; mean 0.68) and aorta at the annulus/ diastolic left ventricular diameter (95% CI 0.36 – 0.61; mean 0.49) are independent of age, height, weight and can also be reliable for detection of aortic dilatation.

Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by mutations of 3-hydroxysterol –7reductase gene (DHCR7) which maps to 11q12-13 and was the first discovered defect in cholesterol biosynthesis resulting in a congenital dysmorphology syndrome. We present the case of a 46,XY newborn with ambiguous genitalia and multiple congenital anomalies (atrial septal defect, ventricular septal defect, syndactyly of the second and third toe, cleft palate, webbed neck, small fontanels, mesomelia, simian palmar crease, micrognathia, wide nasal bridge with anteverted nostrils, low set ears). Hormonal assessment performed at twelve days revealed a decreased testosterone level (0.03 ng/mL), a high estradiol level (448.8 pg/mL), normal LH (2.8UI/mL), DHEAS (86.61?g/dL), progesterone (1.34ng/mL) and 17 hydroxyprogesterone (1.08ng/mL) levels. Cholesterol was low (44mg/dL) confirming the diagnostic of Smith-Lemli-Opitz syndrome.