17 Beta-Hydroxysteroid Dehydrogenase 3 Deficiency in the Mediterranean Population

The study identified 85 males with 17 beta-hydroxysteroid dehydrogenase type 3 (17 beta-HSD3) deficiency in a highly inbred Arab population in Israel, with 57 individuals studied over 25 years. This genetic defect, originating from Lebanon and Syria, was prevalent in areas like Gaza, with an estimated frequency of 1 in 100 to 150 males. Affected individuals were born with ambiguous genitalia and raised as females until puberty, after which significant virilization occurred, often leading to a male gender identity. The condition was characterized by increased androstenedione levels, low to normal testosterone, and a high androstenedione/testosterone ratio. A specific point mutation, R80Q, was identified in 24 individuals from 9 families, indicating an autosomal recessive inheritance pattern. Homozygote males exhibited the deficiency, while homozygote females were asymptomatic.