Male Pseudohermaphroditism Due to 17β-Hydroxysteroid Dehydrogenase Deficiency: Studies on the Natural History of the Defect and Effect of Androgens on Gender Role
July 1983
in “
Journal of Steroid Biochemistry
”
Studysummary This study in the Arab population of Gaza described pseudohermaphroditism due to 17β-HSD deficiency, where individuals showed marked masculinization after puberty despite inadequate androgen proportions.
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The study examined 25 cases of male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency in the Arab population in Israel, focusing on 23 individuals from a large inbred family in the Gaza Strip. These individuals, genetically male (46, XY), were born with ambiguous genitalia and raised as females. At puberty, they developed male physical characteristics and identities, with 7 adopting a male gender role. Hormonal analysis showed elevated Δ4-androstenedione and low testosterone and dihydrotestosterone levels. The study highlighted the puzzling phenomenon of postpubertal masculinization despite inadequate androgen proportions, suggesting a slow process of masculinization requiring more time than typical puberty.
