Study of Neonatal Screening for Congenital Adrenal Hyperplasia due to 21-hydrxylase Deficiency in the Upper Northeastern Area of Thailand

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Sawittree Nakprasit
Sumonta Chaisomchita
Boonipa Songkhram
Walaiporn Rojsanga
Kevalee Unachak

Abstract

          Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder due to 21-hydroxylase deficiency leading to salt wasting symptoms and ambiguous genitalia in affected female. The patients will have high mortality if not receiving proper treatments in a timely manner. This study was a pilot study of CAH screening in the Regional Health 8 office, Thailand to find the incidence and related factors affecting to the newborn screening. The 39,503 dried blood spot samples were collected and Neonatal 17α- hydroxyprogesterone (17-OHP) Screening kit with ELISA technique was used to measure the 17-OHP level. There were 34 cases found positive and 33 of them were followed for confirmation test. Twenty cases found positive from serum samples testing but none of them was diagnosed with CAH. The results showed that newborn with positive screening test had average gestational age and birth weight were below WHO criteria 76.47% and 61.76% respectively. When compare the median 17-OHP of 5 groups of gestational age and 5 groups of birth weight, premature infants and under birth weight infants had higher 17-OHP values than mature and normal birth weight infants, the differences between the medians were significant p < 0.001. Therefore, the factors found related to 17-OHP levels were under birth weight, premature.

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References

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