الفهرس | Only 14 pages are availabe for public view |
Abstract SUMMARY AND CONCLUSION A total of 3134 newborns were screened at the 3rd —5th day of life with a (49.5% )of males and females (50.5%). Complete clinical examination was performed to all the newborns. Blood spots on filter paper were collected for estimation of TSH and phenylalanine levels to the total of 3134 newborns in order to establish the incidence of congenital hypothyroidism and phenylketonuria simultaneously. Only 500 cases were screened for galactosemia. 131(4.2%) showed initial elevation of TSH above the cutoff level 10 RIU/ml. This 4.2% is the incidence of transient hypothyroidism. In the 3rd recall, 5 cases (0.12%) showed a persistent elevation of TSH with a mean of 69.74 ± 45.53pIU/ml which was increased significantly in comparison to the mean of normal 3003 newborns 2.78±2.28 RIU/ml. X-ray of the knee of the 5, cases with congenital hypothyroidism showed delayed maturation of the bones with non visualization of the primary ossific centers of the lower end of femur and upper end of tibia with mild diffuse reduced bone density. . In this study the incidence of congenital hypothyroidism is I: 626.8 which is a high incidence when compared to the neonatal screening program of the ministry of health 1: 2500 in Egypt while the national rate is 1:4000. 3134 newborns were screened for phenylketonuria , 77(2.5%) cases showed initial elevation of phenylketonuria above the cutoff level of 3mg/d1. On the 2” recall and 3ffi recall the 77 cases with high levels of phenylalanine , levels returned to normal levels. No cases with galactosemia were detected. 134 Delayed skeletal maturation is a feature of congenital hypothyroidism and conventional skeletal radiography of the knee is the standard technique for assessing skeletal age and should be associated with the screening program for congenital hypothyroidism. As a result any infant with TSH greater than 400U/m1 is considered to have primary hypothyroidism until proved otherwise. Such infant should be examined by a pediatrician and have confirmatory serum tests done to verify the diagnosis and a knee radiograph performed. Treatment with replacement L-thyroxine should be initiated before the results of the confirmatory tests are available. If the 2”d sample exclude congenital hypothyroidism therapy is discontinued. from 3134 newborns screened, 77 cases (2.5%) had levels of phenylalanine above the cutoff level of 3mg/d1 ,the percentaged on of transient phenyllcetonuria is high. The phenylalanine levels, returne the 2nd and 3rd measurement. Follow up of these newborns is important . PKU and galactolsemia are also important diseases to be screened for prevention of their morbidity and mortality. I 135 |