par Lejeune-Lenain, C.
;Cantraine, Francis
;Prévot, Françoise 
Référence Journal of Steroid Biochemistry, 9, 9, page (847)
Publication Publié, 1978



Référence Journal of Steroid Biochemistry, 9, 9, page (847)
Publication Publié, 1978
Article révisé par les pairs
Résumé : | Heterozygote carriers of 21-hydroxylase deficiency (21-OHD) cannot be detected by measurements of basal adrenal secretion. Attempts were made to reveal the latent metabolic block by ACTH stimulation and determination of plasma 17-hydroxyprogesterone (17-OHP). Overlapping of the response curves between normals and carriers prevented their use for individual prediction purposes. The test sensitivity was improved as follows: endogenous ACTH interference was suppressed by dexamethasone prior to I.V. injection of ACTH: plasma 17-OHP, cortisol (F), progesterone (P), corticosterone (B) and androstenedione (AD) were measured (during the 1 h duration of the test): parameters analyzed were the ratio of plasma increments between precursors and end-products (Δ17-OHP/ΔF, ΔP/ΔB, Δ17-OHP/ΔAD) at corresponding times: data were analysed by a stepwise discriminant analysis. The test was performed in 22 normal adults and 14 parents of children with 21-OHD. The following results were obtained: significant alterations in the metabolic pathways of F and B but not in the conversion of 17-OHP to AD were demonstrated in carriers; addition of ΔP/ΔB results did not improve the discriminant potency of statistical analysis performed in the Δ17-OHP/ΔF data; within the limits imposed by the number of subjects studied, the discriminant analysis applied to the Δ17-OHP/ΔF data revealed a combination of variables which lead to a 91% correct classification for normals and carriers. |