Steroid 17β-Hydroxysteroid Dehydrogenase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism

The study identified 68 males with testicular 17β-hydroxysteroid dehydrogenase deficiency, an inherited form of male pseudohermaphroditism, in a highly inbred Arab population in Israel. Over 15 years, 45 individuals were studied, revealing that affected 46,XY individuals were born with ambiguous genitalia and raised as females until puberty, when significant virilization occurred. This often led to a spontaneous adoption of a male gender role, with adults developing male physical characteristics. The condition was characterized by increased 4-androstendione levels and a high 4-androstendione/testosterone ratio, with varying dihydrotestosterone levels. The study found that the severity of the enzyme deficiency changed with age, with enzyme activity absent in childhood but progressively restored after puberty, allowing for normal androgen production and male gender function.