Abstract
Two female newborns (N° 1 & 2), a 13-yr girl (N° 3) (stages II-IV) and a 2-yr boy (N°4) were studied. 11β-OHD was ascertained on elevated levels of plasma 11-deoxycortisol (S) or urinary THS. Plasma levels (in nmol/1) of Δ4, testosterone (T)and 17α-OH-progesterone (OHP) were followed before, at, and during replacement therapy (Rx), after ACTH (1 mg/m2/dx3) or Dex (2 mg/dx8). Before Rx, Δ4 (33 to 297) was always higher than OHP. The molar Δ4/OHP ratio was constantly high (2.7 ± 1.1;n=10), in contrast to patients with 21-OHD in whom this ration is ≃ 0.03 (0.009 to 0.5). In case N°1, OHP was subnormal at 2-27 days of age; 11β-OHD was suspected only on a high (2-4)Δ4/OHP ratio; after ACTH,Δ4 rose drastically (34.4 to 144), more than OHP(8.6 to 66) and Δ4 /OHP remained similar (2.2).Under Dex (case N°4),OHP dropped to normal within 24 h, while Δ4 decreased slowly and remained abnormally high (5.9) on day 8,thus a stricking rise in Δ4/OHP (2.2 to 18-32) occured during the test. The same pattern was seen in all cases at initiation of Rx. Diurnal variations were larger for OHP(4-10 fold) than for Δ4 (2-3 fold). Under long-term Rx(2-10 yr),despite low normal OHP, T was still above normal when Δ4/OHP was >1. In conclusion, 1)there is a selective accumulation of Δ4 in 11β-OHD which is likely due to the impaired metabolism of Δ4 into 11β-OH Δ4 (normal inactivation pathway) providing an increased substrat for peripheral T conversion. 2)Δ4/OHP is as useful as plasma S,and probably more sensitive,in monitoring Rx and should ideally be < 1.
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Forest, M., Bertrand, J. Δ4−Androstenedione (Δ4, a biochimical marker of 11β-ydroxylas deficiency (11β-OHD). Pediatr Res 18, 1208 (1984). https://doi.org/10.1203/00006450-198411000-00046
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DOI: https://doi.org/10.1203/00006450-198411000-00046