Male Pseudohermaphroditism Due to 17β-Hydroxysteroid Dehydrogenase Deficiency: Studies on the Natural History of the Defect and Effect of Androgens on Gender Role

The study examined 25 individuals with male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency within the Arab population in Israel, primarily in the Gaza strip. These individuals, all 46, XY, were born with ambiguous genitalia and raised as females. At puberty, they developed male physical characteristics and, in some cases, adopted a male gender role. Hormonal analysis revealed elevated Δ4-androstenedione and subnormal testosterone levels, with low dihydrotestosterone. The study highlighted the contrast between the lack of intrauterine virilization and the marked masculinization after puberty, suggesting that masculinization is a gradual process influenced by the combined effects of Δ4, testosterone, and dihydrotestosterone.