17 Beta-Hydroxysteroid Dehydrogenase 3 Deficiency in the Mediterranean Population

The study identified 85 males with 17 beta-HSD3 deficiency in a highly inbred Arab population in Israel, with 57 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 they experienced significant virilization, often leading to a male gender identity. Adults developed male characteristics, including body hair and enlarged genitalia. Diagnosis was possible through endocrine evaluation and mutation analysis, revealing increased androstenedione and altered testosterone levels. A specific point mutation, R80Q, was found in 24 individuals from 9 families, indicating an autosomal recessive inheritance pattern. Homozygote males exhibited the deficiency, while homozygote females were asymptomatic.