Abstract

A woman aged 26, with clinical signs of virilization which had appeared 2 yr earlier after a full-term pregnancy, was studied. Urinary steroid excretion during a control period, after ACTH stimulation, on metyrapone administration, on dexamethasone suppression and HCG stimulation, was indicative of a compensated 21-hydroxylase deficiency. Basal urinary excretion of 17-ketosteroids (mainly androsterone, etiocholanolone, 11-hydroxyandrosterone and 11-hydroxyetiocholanolone), pregnanetriol, testosterone and pregnanetriolone was elevated. ACTH caused a further sharp increase in the urinary output of these steroids, and only a moderate rise of 17-hydroxycorticosteroids. A marked increase of 17-ketosteroids and pregnanetriol was also induced by metyrapone, while dexamethasone caused a prompt fall of 17-ketosteroids, pregnanetriol and pregnanetriolone. HCG induced a moderate increase in 11-deoxy-17-ketosteroids (mainly etiocholanolone). The clinical and biochemical findings and the delayed onset of the syndrome are discussed. The therapeutic effects of adrenal suppression are also described.

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