Abstract
An unusually sluggish response to a single 0.25 mg dose of ACTH was noted in some newborns with congenital adrenal hyperplasia due to 21-hydroxytase deficiency (21-OHD) diagnosed by molecular genetic studies. Four of the 11 (36%) affected newborns that we studied, demonstrated baseline and ACTH stimulated 17-hydroxyprogesterone (17-OHP) levels clearly higher than the unaffected newborns, but only in the range of values established for heterozygote rather than that for homozygote affected patients at an older age. Therefore, we set out to establish the range of adrenal steroid response of normal and affected infants in the newborn period. The serum concentrations of 17-OHP and Δ-4-Androstenedione (Δ-4-A), which have proven most useful in diagnosing CAH are summarized as follows:
We also measured baseline and stimulated values of 17-hydroxypregnenolone (17-OHPreg), 11-deoxycortisol (DOC), cortisol (F), deoxycorticosterone (B), dehydroepiandrosierone (DHEA), testosterone (T) and the calculated ratios of 17-OH Preg/17-OHP, DHEA/Δ-4-A and 17-OHP/DOC. In conclusion, the response of 17-OHP to ACTH stimulation in newborns affected with CAH may be lower than that of older infants and children but higher than unaffected individuals. Physicians should be alerted to the possible significance of only moderately elevated 17-OHP levels in the early neonatal period.
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Kalaitzoqlou, G., New, M. SLUGGISH RESPONSE TO ADRENOCORTICOTROPIN STIMULATION IN NEWBORNS WITH 21-HYDROXYLASE DEFICIENCY (CAH). Pediatr Res 33 (Suppl 5), S19 (1993). https://doi.org/10.1203/00006450-199305001-00093
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DOI: https://doi.org/10.1203/00006450-199305001-00093