Abstract
At 23yrs of age a CAH (21-OHase) was diagnosed in a woman complaining of (slight) hirsutism and oligomenorrhea. During dexa-methasone treatment she went through 3 normal pregnancies. The first child (boy) had a largely elevated 17-OHP at 2 days of age (280nmol/1) but was left untreated. At age seven he was healthy and had normal height and bone age. The second child (girl) when examined at 4 yrs of age showed no virilization, normal heigth and bone age. Both children then showed elevated basal levels of 17-OHP; 16,5 and 29nmol/1 which increased to 147 and 220nmol/1 60 after ACTH (0,25mg iv). The cortisol response to ACTH was poor (205 to 295nmol/1) for the girl and borderline low (215 to 488) for the boy. The third child was healthy in all mentioned respects. The three affected members of the family fell within the range of individuals with acquired or cryptic CAH ( M.I.New et al. J.Clin.Endocr. Metab. 57:320 (1983). HLA typing of the family was consistent with the biochemical classification. Conclusions: The present family indicates that even in the so-called late onset or acquired 21-OHase deficiency, the enzymatic defect is present and expressed at birth. If so all children detected in neonatal screening program may not need treatment.
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Hagenäs, L., Rtzen, E. Neonatally elevated 17-OH-Progesterone (17-OHP) in so-called late onset congenital adrenal hyperplasia (21-Ohase deficiency). Pediatr Res 18, 1226 (1984). https://doi.org/10.1203/00006450-198411000-00152
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DOI: https://doi.org/10.1203/00006450-198411000-00152