SILVER-RUSSELL SYNDROME - OBSERVATIONS IN 20 PATIENTS

Abstract

The growth and development data of 20 patients with the Silver-Russell syndrome (14 boys, 6 girls) were analyzed. Family history, pregnancy and delivery did not reveal any significant anomalies. Birth length was 44.0 .+-. 3.0 cm (boys) and 43.8 .+-. 2.1 cm (girls), birth weight 2.0 .+-. 0.4 kg and 2.05 .+-. 0.3 kg, respectively. At the time of diagnosis (mean age 4.1 .+-. 2.2 yr), height was -4.4, bone age -1.9, weight -3.7, and head circumference -1.5 SD below the normal mean for age. Calculated or reached adult height corresponded to 82-94% of target height. Intelligence was normal in most patients. Eight had asymmetrical extremities, 3 an asymmetrical face. Seven of 14 boys had cryptorchidism (3 uni-, 4 bilateral), 2 incomplete masculinization, and 2 of 6 girls hypertrophy of the clitoris. Development of secondary sex characters was appropriate for bone age with exception of 1 boy, whose puberty was early. In 3 boys with completed pubertal development, testicular volume was small and gonadotropins (before and after LHRH [luliberin]) high. The growth pattern in Silver-Russell syndrome is quite homogeneous and rather accurate predictions are possible; intersexual genitalia do not seem to be related to endocrine factors and hypergonadotropic hypogonadism appears to be frequent in males.