Congenital adrenal hyperplasia: should nationwide screening be implemented in Thailand?
A project to establish the Thailand National Neonatal Screening Program was started in 1996 with the objective of screening every newborn for congenital hypothyroidism and phenylketonuria. Over a million newborns were screened and over 430 abnormal cases were detected. A study was also conducted to determine the feasibility of including CAH screening in the program. The incidence of this disease has not yet been clearly determined. Since 1999, 58,563 newborns have been screened for CAH and 144 newborns with serum 17-OHP higher than 40 ng/mL were recalled for confirmatory tests. Of those, 68 were retested and 6 were found to have elevated 17-OHP levels. Two were confirmed with salt wasting CAH one month after birth, two others were diagnosed with another disease that caused electrolyte imbalance, one patient died, and the sixth required further clinical diagnosis. Five other babies were reported dead before the second specimens could be collected for confirmation. It appears that CAH may be one of the underlying causes of death among Thai newborns and the incidence may be higher than thus far shown due to incomplete confirmation of positive screens and deaths to some infants.
Janejai
Noppavan
N
National Institute of Health, Ministry of Public Health, Nonthaburi, Thailand.
Krasao
Piamnukul
P
Phansang
Jaruwan
J
Pankarnjanato
Rojanaphan
R
Charoensiriwatana
Wiyada
W
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics; D001800:Blood Specimen Collection; D005240:Feasibility Studies; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D007231:Infant, Newborn; D008297:Male; D009313:National Health Programs; D015997:Neonatal Screening; D010661:Phenylketonurias / Q000175:diagnosis; D016133:Polymerase Chain Reaction; D015397:Program Evaluation; D013785:Thailand