Abstract
Four neonates (2 boys, 2 girls) with congenital adrenal hyperplasia (CAH) was studied. All of the Children were saltlosers. Two of the children had a sister or brother with CAH. By means of paper and thin layer chromatography the urinary steroids were studied on the 3 to 14 day of life, when signs of adrenal disorder had appeared. Highly increased excretion of 3 beta-hydroxy Δ5 steroids was shown to be present in all 4 patients. Pregnanetriol was less dominant but increased in all the patients, During treatment with cortisone the excretion of the above mentioned steroids returned to normal levels. Repeated studies after 3 months of age showed a typical excretion pattern for 21-hydroxylase deficiency with increased excretion of pregnanetriol and negligible excretion of 3 beta-hydroxy Δ5 steroids.
Our findings confirm the observations that newborn infants with 21-hydroxylase deficiency initially can be misdiagnosed to have a deficiency of the 3 beta-hydroxy-steroid dehydrogenase. The findings also support the theory of the existence of 2 separate 21-hydroxylase systems, one active on pregnenolone and one on 17-alfa-hydroxy-progesterone.
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Nielsen, M., Petersen, K. STEROID EXCRETION PATTERNS IN URINE FROM NEONATES WITH CONGENITAL ADRENAL HYPERPLASIA. Pediatr Res 9, 689 (1975). https://doi.org/10.1203/00006450-197508000-00135
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DOI: https://doi.org/10.1203/00006450-197508000-00135