Decreased Adrenal Androgen Biosynthesis in Patients with Gonadal Dysgenesis

The excretion of the 17-ketosteroids, Silber-Porter chromogens, 11-deoxyketosteroids, 11-oxyketosteroids, pregnanetriol, tetrahydro compound S, and Δ6-pregnenetriol was investigated in 4 patients with gonadal dysgenesis, during a control period and after stimulation with ACTH. The results are compared with those obtained in identical studies of 2 young ovariectomized women and a woman with ovarian hypoplasia. In 3 of the 4 patients with gonadal dysgenesis the excretion of 17-ketosteroids was low due to low levels of dehydroepiandrosterone, androsterone and etiocholanolone. The excretion of these steroids did not reach normal levels after three days of ACTH stimulation. The excretion of the 11-oxyketosteroids, 11β-hydroxyetiocholanolone, 11β-hydroxy androsterone, and 11-ketoetiocholanolone was normal. No differences could be demonstrated in the excretion of pregnanetriol, tetrahydro compound S or Δ5-pregnenetriol, either initially or after ACTH. It is concluded that adrenal androgen biosynthesis is decreased in some patients with gonadal dysgenesis. This appears to be in a pathway of androgen bio- Synthesis separate from corticoid biosynthesis. This may represent another of the multiple defects associated with gonadal dysgenesis.