PUBERTAL CHANGES IN TESTICULAR 3-BETA-HYDROXYSTEROID DEHYDROGENASE-ACTIVITY IN A MALE WITH CLASSICAL 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY SHOWING SPONTANEOUS SECONDARY SEXUAL-MATURATION

Males with classical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency manifest appropriate secondary sexual maturation with an el evation in serum testosterone levels at pubertal age. To define the or igin of serum testosterone, we evaluated a male patient with classical 3 beta-HSD who showed pubertal development. High values of testostero ne and a ratio of Delta(5) to Delta(4) steroids in the spermatic vein indicated direct production of considerable amounts of testosterone an d a persistent defect of 3 beta-HSD activity in the gonad. Immunohisto chemical analysis showed distinct immunoreactivity in the Leydig cells of the patient. The patient was homozygous for a nonsense mutation in the type-II 3 beta-HSD gene. We propose that gonadal type-I 3 beta-HS D could be expressed by gonadotropin stimulation at pubertal age, and Delta(4)-steroid precursors would convert to testosterone.