Silver-Russell syndrome. Observations in 20 patients.
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 years), height was -4.4, bone age -1.9, weight -3.7, and head circumference -1.5 standard deviations below the normal mean for age. Calculated or reached adult height corresponded to 82--94% of target height. Intelligence was normal in most patients. 8 had asymmetrical extremities, 3 an asymmetrical face. 7 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 one boy, whose puberty was early. In 3 boys with completed pubertal development, testicular volume was small and gonadotropins (before and after LHRH) high. It is concluded that 1. the growth pattern in Silver-Russell syndrome is quite homogeneous, and rather accurate predictions are possible; 2. Intersexual genitalia do not seem to be related to endocrine factors, and 3. hypergonadotropic hypogonadism appears to be frequent in males.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D000886:Anthropometry; D001724:Birth Weight; D001848:Bone Diseases, Developmental / Q000503:physiopathology; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006128:Growth; D006130:Growth Disorders / Q000503:physiopathology; D006801:Humans; D006984:Hypertrophy; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology; D007231:Infant, Newborn; D007360:Intelligence; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009048:Motor Skills; D011247:Pregnancy; D011629:Puberty, Precocious; D013577:Syndrome; D014564:Urogenital Abnormalities
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone