[Elevated levels of plasma 4-ene steroids in a case of congenital deficiency of 3 beta-hydroxysteroid dehydrogenase].

Plasma hormones have been evaluated from birth to six months in a boy with male pseudohermaphroditism due to congenital 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency. At birth, plasma 17-hydroxyprogesterone (17-OHP) was slightly elevated while cortisol was within the normal range. Both 17-OHP and testosterone (T) were increased the fifth day. At the age of 2 months, only the baseline level of 17-hydroxypregnenolone (17-OH5P) was slightly elevated and the diagnosis of 3 beta-HSD deficiency was established in view of the excessive response of 17-OH5P and dehydroepiandrosterone (DHA) to Synacthen administration. There was an important increase of T and dihydrotestosterone in response to chorionic gonadotropin (hCG) administration while no significant variation of the other studied steroids was observed. These results suggest that the determination of plasma 17-OH5P seems to be the best tool to diagnose congenital 3 beta-HSD deficiency. The increase of 17-OHP is the result of 17-OH5P conversion in peripheral tissues. Though T response to hCG is rather normal, a partial testicular deficiency of 3 beta-HSD cannot be excluded. The ambiguous genitalia observed in this boy with normal plasma T levels might suggest that T production might have been deficient at the time when urethral-fold fusion occurred.