Abstract
In 10 native 21-HD patients, 5 newborns and 5 older patients (aged 1-10 yr), salivary 17-OH progesterone (17-OHP) and androstenedione (A-dione) concentrations were measured, along with plasma concentrations. Prepubertal upper reference limits were for 17-OHP≤4 yr: 16 ng/dl, 4-10 yr: 7 ng/dl and for A-dione all ages ≤ 10 yr: 7 ng/dl. In the 21 HD-patients salivary 17-OHP values varied from 56 to 1782 ng/dl and A-dione values from 4 to 720 ng/dl.
Newborns had considerable higher levels than older patients. Correlation coefficients for salivary versus plasma concentrations were 0.957 (17-OHP) and 0.863 (A-dione). Newborns did not show a diurnal variation, while in the older patients 1800 h. values averaged 23% (17-OHP) and 39% (A-dione) of the 0900 h. values, correlation coefficients for saliva versus plasma concentrations being 0.689 (17-OHP) and 0.990 (A-dione). After dexamethasone suppression salivary concentrations paralleled plasma values (r = 0.916 for 17-OHP and r = 0.858 for A-dione). The mean salivary concentrations decreased to 9.2% (17-OHP) and 14.0% (A-dione) of the initial values, in most patients reaching the normal range.
It is concluded that salivary steroid determination is a suitable and reliable index for the diagnosis of 21-hydroxylase deficiency.
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Otten, B., Rijken, J., Stoelinga, C. et al. 151 DIACNOSIS OF 21-HYDROXYLASE DEPFICIENCY (21-HD) BY DETERMINATION OF SALIVARY STEROIDS. Pediatr Res 24, 542 (1988). https://doi.org/10.1203/00006450-198810000-00172
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DOI: https://doi.org/10.1203/00006450-198810000-00172